Main View
This view is used for searching all possible sources.
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
1
A new classification method using array Comparative Genome Hybridization data, based on the concept of Limited Jumping Emerging Patterns
2009-01-30

BackgroundClassification using aCGH data is an important and insufficiently investigated problem in bioinformatics. In this paper we propose a new classification method of DNA copy number data based on the concept of limited Jumping Emerging Patterns. We present the comparison of our limJEPClassifier to SVM which is considered the most successful classifier in the case of ...

PubMed Central

2
A probe-density-based analysis method for array CGH data: simulation, normalization and centralization
2008-08-15

Motivation: Genomic instability is one of the fundamental factors in tumorigenesis and tumor progression. Many studies have shown that copy-number abnormalities at the DNA level are important in the pathogenesis of cancer. Array comparative genomic hybridization (aCGH), developed based on expression microarray technology, can reveal the chromosomal ...

PubMed Central

3
Use of BAC array CGH for evaluation of chromosomal stability of clinically used human mesenchymal stem cells and of cancer cell lines.
2010-12-31

Array-based comparative genomic hybridization (aCGH) using bacterial artificial chromosomes (BAC) is a powerful method to analyze DNA copy number aberrations of the entire human genome. In fact, CGH and aCGH have revealed various DNA copy number aberrations in numerous cancer cells and cancer cell lines examined so far. In this report, ...

PubMed

4
Integrative analysis of array-comparative genomic hybridisation and matched gene expression profiling data reveals novel genes with prognostic significance in oesophageal adenocarcinoma.
2011-04-08

Background and aims The incidence of oesophageal adenocarcinoma (OAC) has been increasing rapidly with a dismal survival rate of less than 20%. Understanding the genomic aberrations and biology of this cancer may enhance disease interventions. This study aimed to use genome-wide genomic and expression data to enhance the understanding of OAC pathogenesis and identify groups with differential ...

PubMed

5
[Fetal chromosome technique by microarray-based comparative genomic hybridization].
2010-03-29

Microarray-based comparative genomic hybridization (aCGH) is becoming an efficient clinical diagnostic tool enabling genome-wide screening of segmental copy number variations (CNVs). Regarding its ability to detect segmental genomic CNVs in individuals with mental retardation, autism and multiple congenital anomalies, aCGH is gradually replacing ...

PubMed

6
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion.
2011-06-01

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder associated with mutations of the MEN1 gene, which is characterized by combined tumors of the parathyroid glands, pancreatic islet cells, and the anterior pituitary. A significant number of patients with the clinical features of MEN1, however, do not show MEN1 mutations upon direct ...

PubMed

7
Genetic amplification of the vascular endothelial growth factor (VEGF) pathway genes, including VEGFA, in human osteosarcoma.
2011-04-14

BACKGROUND: Osteosarcoma is the most common primary tumor of bone. It is a highly vascular and extremely destructive malignancy that mainly affects children and young adults. The authors conducted microarray-based comparative genomic hybridization (aCGH) and pathway analyses to gain a systemic view of pathway alterations in the genetically altered genes. METHODS: Recurrent ...

PubMed

8
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
2010-04-01

Holoprosencephaly (HPE) is the most common developmental forebrain anomaly in humans. Both environmental and genetic factors have been identified to play a role in the HPE phenotype. Previous studies of the genetic bases of HPE have taken a phenotype-first approach by examining groups of patients with HPE for specific mutations or deletions in known or candidate HPE genes. In this study, we ...

PubMed

9
A fused lasso latent feature model for analyzing multi-sample aCGH data.
2011-06-03

Array-based comparative genomic hybridization (aCGH) enables the measurement of DNA copy number across thousands of locations in a genome. The main goals of analyzing aCGH data are to identify the regions of copy number variation (CNV) and to quantify the amount of CNV. Although there are many methods for analyzing single-sample aCGH ...

PubMed

10
Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated del(5q) using oligonucleotide array CGH.
2007-12-01

Isolated deletions of the long arm of chromosome 5, del(5q), are observed in 10% of myelodysplastic syndromes (MDS) and are associated with a more favorable prognosis, although the clinical course varies considerably. If one or more additional chromosomal aberrations are present, this correlates with a significantly shorter overall survival. To assess the frequency of hidden ...

PubMed

11
Array-based comparative genomic hybridization as a tool for analyzing the leukemia genome.
2009-01-01

Comparative genomic hybridization (CGH) is arguably the most significant technical development in the molecular cytogenetics era, and has contributed considerably to our further understanding of the cancer genome. In essence, DNA from a cancer specimen (test DNA) labeled with the fluorescence reporter molecule (or fluorochrome) is hybridized to a target genome in the presence ...

PubMed

12
Array comparative genomic hybridisation (aCGH) analysis of premenopausal breast cancers from a nuclear fallout area and matched cases from Western New York
2005-09-13

High-resolution array comparative genomic hybridisation (aCGH) analysis of DNA copy number aberrations (CNAs) was performed on breast carcinomas in premenopausal women from Western New York (WNY) and from Gomel, Belarus, an area exposed to fallout from the 1986 Chernobyl nuclear accident. Genomic DNA was isolated from 47 frozen tumour specimens from 42 patients and hybridised ...

PubMed Central

13
Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.
2007-06-05

Array based comparative genomic hybridisation (aCGH) is a powerful technique for detecting clinically relevant genome imbalance and can offer 40 to > 1000 times the resolution of karyotyping. Indeed, idiopathic learning disability (ILD) studies suggest that a genome-wide aCGH approach makes 10-15% more diagnoses involving genome imbalance than ...

PubMed

14
Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom
2007-06-05

Array based comparative genomic hybridisation (aCGH) is a powerful technique for detecting clinically relevant genome imbalance and can offer 40 to�>�1000 times the resolution of karyotyping. Indeed, idiopathic learning disability (ILD) studies suggest that a genome-wide aCGH approach makes 10�15% more diagnoses involving genome imbalance than ...

PubMed Central

15
Identifying the Molecular Signature of the Interstitial Deletion 7q Subgroup of Uterine Leiomyomata Using a Paired Analysis
2009-10-01

Uterine leiomyomata (UL), the most common neoplasm in reproductive-age women, have recurrent cytogenetic abnormalities including del(7)(q22q32). To develop a molecular signature, matched del(7q) and non-del(7q) tumors identified by FISH or karyotyping from 11 women were profiled with expression arrays. Our analysis using paired t-tests demonstrates this matched design is critical to eliminate ...

PubMed Central

16
Chromosomal and miRNA Expression Patterns Reveal Biologically Distinct Subgroups of 11q? Neuroblastoma
2010-04-20

PurposeThe purpose of this study was to further define the biology of the 11q? neuroblastoma tumor subgroup by the integration of aCGH with miRNA expression profiling data to determine if improved patient stratification is possible.Experimental DesignA set of primary neuroblastoma (n=160) which was broadly representative of all genetic subtypes was analyzed by ...

PubMed Central

17
Structural Variation of the Mouse Natural Killer Gene Complex
2010-09-23

The natural killer gene complex (NKC) on chromosome 6 contains clusters of genes that encode both activation and inhibitory receptors expressed on mouse natural killer (NK) cells. NKC genes, particularly belonging to the Nkrp1 and Ly49 gene families, display haplotype differences between different mouse strains and allelic polymorphisms of individual genes, as previously ...

PubMed Central

18
The array CGH and its clinical applications.
2008-07-17

Array comparative genomic hybridization (aCGH) is a technique enabling high-resolution, genome-wide screening of segmental genomic copy number variations (CNVs). It is becoming an essential and a routine clinical diagnostic tool and is gradually replacing cytogenetic methods. Most of the clinically available aCGH platforms are designed to detect ...

PubMed

19
Distinct Genetic Alterations in Colorectal Cancer
2010-01-26

BackgroundColon cancer (CRC) development often includes chromosomal instability (CIN) leading to amplifications and deletions of large DNA segments. Epidemiological, clinical, and cytogenetic studies showed that there are considerable differences between CRC tumors from African Americans (AAs) and Caucasian patients. In this study, we determined genomic copy number aberrations in sporadic CRC ...

PubMed Central

20
Microarray as a first genetic test in global developmental delay: a cost-effectiveness analysis.
2011-08-16

Aim? Microarray technology has a significantly higher clinical yield than karyotyping in individuals with global developmental delay (GDD). Despite this, it has not yet been routinely implemented as a screening test owing to the perception that this approach is more expensive. We aimed to evaluate the effect that replacing karyotype with array-based comparative genomic ...

PubMed

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
21
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells.
2011-05-09

ABSTRACT: BACKGROUND: The results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by comparative genomic hybridization on microarray (a-CGH), but in mosaicism the ability of a-CGH to reliably detect imbalances is not yet well established. This problem of sensitivity is even more ...

PubMed

22
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells
2011-05-09

BackgroundThe results of cytogenetic investigations on unbalanced chromosome anomalies, both constitutional and acquired, were largely improved by comparative genomic hybridization on microarray (a-CGH), but in mosaicism the ability of a-CGH to reliably detect imbalances is not yet well established. This problem of sensitivity is even more relevant in ...

PubMed Central

23
Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes
2010-11-15

BackgroundRecent genome-wide microarray-based research investigations have revealed a high frequency of submicroscopic copy number alterations (CNAs) in the myelodysplastic syndromes (MDS), suggesting microarray-based comparative genomic hybridization (aCGH) has the potential to detect new clinically relevant genomic markers in a diagnostic ...

PubMed Central

24
Microarray Comparative Genomic Hybridisation Analysis Incorporating Genomic Organisation, and Application to Enterobacterial Plant Pathogens
2009-08-21

Microarray comparative genomic hybridisation (aCGH) provides an estimate of the relative abundance of genomic DNA (gDNA) taken from comparator and reference organisms by hybridisation to a microarray containing probes that represent sequences from the reference organism. The experimental method is used in a number of biological applications, including the detection of human ...

PubMed Central

25
Genomic aberrations in pediatric gliomas and embryonal tumors.
2011-06-29

The pathogenesis of pediatric central nervous system tumors is poorly understood. To increase knowledge about the genetic mechanisms underlying these tumors, we performed genome-wide screening of 17 pediatric gliomas and embryonal tumors combining G-band karyotyping and array comparative genomic hybridization (aCGH). G-banding revealed abnormal karyotypes ...

PubMed

26
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
2010-05-01

Insertional translocations (ITs) are rare events that require at least three breaks in the chromosomes involved and thus qualify as complex chromosomal rearrangements (CCR). In the current study, we identified 40 ITs from approximately 18,000 clinical cases (1:500) using array-comparative genomic hybridization (aCGH) in conjunction with fluorescence in situ hybridization ...

PubMed

27
Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics
2010-09-01

Application of array comparative genomic hybridization (aCGH) has allowed an unprecedented high-resolution analysis of cancer genomes. We developed a custom genome-wide oligonucleotide microarray interrogating 493 genes involved in hematological disorders. We analyzed 55 patients with hematological neoplasms by using this microarray. In 33 patients with apparent normal ...

PubMed Central

28
Genomic analysis of CD8+ NK/T cell line, �SRIK-NKL�, with array-based CGH (aCGH), SKY/FISH and molecular mapping
2007-07-20

We performed aCGH, SKY /FISH, molecular mapping and expression analyses on a permanent CD8+ NK/T cell line, �SRIK-NKL� established from a lymphoma (ALL) patient, in attempt to define the fundamental genetic profile of its unique NK phenotypes. aCGH revealed hemizygous deletion of 6p containing genes responsible for hematopoietic ...

PubMed Central

29
Genomic analysis of CD8+ NK/T cell line, 'SRIK-NKL', with array-based CGH (aCGH), SKY/FISH and molecular mapping.
2007-07-20

We performed aCGH, SKY/FISH, molecular mapping and expression analyses on a permanent CD8+ NK/T cell line, 'SRIK-NKL' established from a lymphoma (ALL) patient, in attempt to define the fundamental genetic profile of its unique NK phenotypes. aCGH revealed hemizygous deletion of 6p containing genes responsible for hematopoietic ...

PubMed

30
Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.
2011-04-15

D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, D�silets V, Nizard S, Michaud JL, Lemyre E. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Despite a wide range of clinical tools, the etiology of mental retardation and multiple congenital malformations remains unknown for many patients. Array-based comparative ...

PubMed

31
A non-BRCA1/2 hereditary breast cancer sub-group defined by aCGH profiling of genetically related patients.
2011-02-01

Germline mutations in BRCA1 and BRCA2 explain approximately 25% of all familial breast cancers. Despite intense efforts to find additional high-risk breast cancer genes (BRCAx) using linkage analysis, none have been reported thus far. Here we explore the hypothesis that BRCAx breast tumors from genetically related patients share a somatic genetic etiology that might be ...

PubMed

32
A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family
2011-02-10

PurposeThe paired box gene 6 (PAX6) on human chromosome 11p13 is an essential transcription factor for eye formation in animals. Mutations in PAX6 can lead to varieties of autosomal-dominant ocular malformations with aniridia as the major clinical signs. Known genetic alterations causing haplo-insufficiency of PAX6 include nonsense mutations, frame-shift mutations, splicing errors, or genomic ...

PubMed Central

33
Determining Frequent Patterns of Copy Number Alterations in Cancer
2010-08-12

Cancer progression is often driven by an accumulation of genetic changes but also accompanied by increasing genomic instability. These processes lead to a complicated landscape of copy number alterations (CNAs) within individual tumors and great diversity across tumor samples. High resolution array-based comparative genomic hybridization (aCGH) is being used to profile CNAs of ...

PubMed Central

34
ADaCGH: A Parallelized Web-Based Application and R Package for the Analysis of aCGH Data
2007-08-15

BackgroundCopy number alterations (CNAs) in genomic DNA have been associated with complex human diseases, including cancer. One of the most common techniques to detect CNAs is array-based comparative genomic hybridization (aCGH). The availability of aCGH platforms and the need for identification of CNAs has resulted in a wealth of methodological ...

PubMed Central

35
High-resolution genomic and expression analyses of copy number alterations in HER2-amplified breast cancer
2010-05-06

IntroductionHER2 gene amplification and protein overexpression (HER2+) define a clinically challenging subgroup of breast cancer with variable prognosis and response to therapy. Although gene expression profiling has identified an ERBB2 molecular subtype of breast cancer, it is clear that HER2+ tumors reside in all molecular subtypes and represent a genomically and biologically heterogeneous ...

PubMed Central

36
KC-SMARTR: An R package for detection of statistically significant aberrations in multi-experiment aCGH data
2010-11-11

BackgroundMost approaches used to find recurrent or differential DNA Copy Number Alterations (CNA) in array Comparative Genomic Hybridization (aCGH) data from groups of tumour samples depend on the discretization of the aCGH data to gain, loss or no-change states. This causes loss of valuable biological information in tumour samples, which are frequently ...

PubMed Central

37
Gene copy number variation in male breast cancer by aCGH.
2011-05-01

BACKGROUND: Male breast cancer (MBC) is a rare disease and little is known about its etiopathogenesis. Array comparative genomic hybridization (aCGH) provides a method to quantitatively measure the changes of DNA copy number and to map them directly onto the complete linear genome sequences. The aim of this study was to investigate DNA imbalances by aCGH ...

PubMed

38
Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis
2011-02-03

BackgroundChronic lymphocytic leukemia (CLL) is a highly variable disease with life expectancies ranging from months to decades. Cytogenetic findings play an integral role in defining the prognostic significance and treatment for individual patients.ResultsWe have evaluated 25 clinical cases from a tertiary cancer center that have an established diagnosis of CLL and for which ...

PubMed Central

39
Copy number abnormalities in sporadic canine colorectal cancers
2010-03-01

Human colorectal cancer (CRC) is one of the better-understood systems for studying the genetics of cancer initiation and progression. To develop a cross-species comparison strategy for identifying CRC causative gene or genomic alterations, we performed array comparative genomic hybridization (aCGH) to investigate copy number abnormalities (CNAs), one of the most prominent ...

PubMed Central

40
Developmental control of the DNA replication and transcription programs
2011-02-01

Polyploid or polytene cells, which have more than 2C DNA content, are widespread throughout nature and present in most differentiated Drosophila tissues. These cells also can display differential replication, that is, genomic regions of increased or decreased DNA copy number relative to overall genomic ploidy. How frequently differential replication is used as a developmental strategy remains ...

PubMed Central

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
41
Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors
2010-11-30

Malignant tumors result from the accumulation of genetic alterations in oncogenes and tumor suppressor genes. Much less is known about the genetic changes in benign tumors. Seborrheic keratoses (SK) are very frequent benign human epidermal tumors without malignant potential. We performed a comprehensive mutational screen of genes in the FGFR3-RAS-MAPK and phosphoinositide 3-kinase (PI3K)-AKT ...

PubMed Central

42
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.
2010-12-08

Various rearrangements involve the proximal long arm of chromosome 15, including deletions, duplications, translocations, inversions and supernumerary marker chromosome of an inverted duplication. The large marker 15, that contains the Prader-Willi syndrome (PWS)/Angelman syndrome (AS) chromosome region, is usually associated with an abnormal phenotype of moderate to severe mental retardation, ...

PubMed

43
CHEK2 genomic and proteomic analyses reveal genetic inactivation or endogenous activation across the 60 cell lines of the US National Cancer Institute.
2011-07-18

CHEK2 encodes a serine/threonine kinase (Chk2) activated by ATM in response to DNA double-strand breaks. On the one hand, CHEK2 has been described as a tumor suppressor with proapoptotic, cell-cycle checkpoint and mitotic functions. On the other hand, Chk2 is also commonly activated (phosphorylated at T68) in cancers and precancerous lesions. Here, we report an extensive characterization of CHEK2 ...

PubMed

44
Increased WSB1 copy number correlates with its over-expression which associates with increased survival in neuroblastoma

Departmentof Tumor Genetics,German Cancer Research Center,Heidelberg,Germany Gain of chromosome 17 is the most prevalent genetic abnormality identified in neuroblastoma (NB) and distal 17q gain has prognostic significance in NB. In this report, we have combined array-based comparative genomic hybridization (A-CGH) and gene expression analysis to ...

Cancer.gov

45
Loss of 6q or 8p23 is associated with the total number of DNA copy number aberrations in adenoid cystic carcinoma.
2011-09-05

We analyzed 10 adenoid cystic carcinomas (ACCs) of the salivary glands by array-based comparative genomic hybridization (a-CGH) using DNA chips spotted with 4,030 bacterial artificial chromosome clones. After the data smoothing procedure was applied, a total of 88 DNA copy number aberrations (DCNAs) were detected. The frequent ...

PubMed

46
Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures.
2010-08-02

Mutations in genes encoding voltage-gated sodium channels are significant factors in the etiology of neurological diseases and psychiatric disorders, including various types of idiopathic epilepsy. Using a clinical exon-targeted oligonucleotide array comparative genomic hybridization (aCGH), we have identified a de novo ~110-kb deletion involving exons 1-2 ...

PubMed

47
Genomic, immunophenotypic, and NPM1/FLT3 mutational studies on 17 patients with normal karyotype acute myeloid leukemia (AML) followed by aberrant karyotype AML at relapse.
2010-10-15

Normal karyotype (NK) is the most common cytogenetic group in acute myeloid leukemia (AML) diagnosis; however, up to 50% of these patients at relapse will have aberrant karyotype (AK) AML. To determine the etiology of relapsed AK AML cells, we evaluated cytogenetic, immunophenotypic, and molecular results of 17 patients with diagnostic NK AML and relapsed AK AML at our institute. AK AML karyotype ...

PubMed

48
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
2011-04-02

BackgroundGenomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date.ResultsWe have clinically screened more than 100 patients with ...

PubMed Central

49
Tumor genomic profiling and TP53 germline mutation analysis of first-degree relative familial gliomas.
2007-07-15

About 5% of gliomas occur in a familial context, which suggests a genetic origin, but the predisposing molecular factors remain unknown in most cases. A series of nine familial gliomas were characterized with 1-megabase resolution BAC array-based comparative genomic hybridization (aCGH) together with germline sequence analysis of TP53. This series was compared with a ...

PubMed

50
Shared acquired genomic changes in zebrafish and human T-ALL.
2011-05-09

T-cell acute lymphoblastic leukemia (T-ALL) is a challenging clinical entity with high rates of induction failure and relapse. To discover the genetic changes occurring in T-ALL, and those contributing to relapse, we studied zebrafish (Danio rerio) T-ALL samples using array comparative genomic hybridization (aCGH). We performed aCGH on 17 T-ALLs from four ...

PubMed

51
WebaCGH: an interactive online tool for the analysis and display of array comparative genomic hybridisation data.
2006-01-01

Gene copy number variations occur both in normal cells and in numerous pathologies including cancer and developmental diseases. Array comparative genomic hybridisation (aCGH) is an emerging technology that allows detection of chromosomal gains and losses in a high-resolution format. When aCGH is performed on cDNA and oligonucleotide microarrays, the impact ...

PubMed

52
MLPA for confirmation of array CGH results and determination of inheritance
2010-10-13

BackgroundArray CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of parental samples to determine inheritance and thus assess the clinical significance of the abnormality. Here we describe an MLPA-based strategy for the follow-up ...

PubMed Central

53
Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia
2011-01-20

BackgroundTo evaluate the clinical validity of genome-wide oligonucleotide array comparative genomic hybridization (aCGH) for detecting somatic abnormalities, we have applied this genomic analysis to 30 cases (13 MDS and 17 AML) with clonal chromosomal abnormalities detected in more than 50% of analyzed metaphase cells.ResultsThe aCGH detected all ...

PubMed Central

54
Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects.
2011-09-13

Array comparative genomic hybridization (aCGH) has led to an increased detection of causal chromosomal imbalances in individuals with congenital heart defects (CHD). The introduction of aCGH as a diagnostic tool in a clinical cardiogenetic setting entails numerous challenges. Based on our own experience as well as those of others described in the ...

PubMed

55
Application of a target array Comparative Genomic Hybridization to prenatal diagnosis
2010-06-24

BackgroundWhile conventional G-banded karyotyping still remains a gold standard in prenatal genetic diagnoses, the widespread adoption of array Comparative Genomic Hybridization (array CGH) technology for postnatal genetic diagnoses has led to increasing interest in the use of this same technology for prenatal diagnosis. We have investigated the value of our own designed DNA chip as a prenatal ...

PubMed Central

56
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4.
2011-06-01

OBJECTIVE: To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome, or r(4) by spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). MATERIALS, METHODS, AND RESULTS: A 37-year-old, primigravid woman ...

PubMed

57
Partial monosomy 13q (13q21.32?qter) and partial trisomy 8p (8p12?pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization.
2011-06-01

OBJECTIVE: To present array comparative genomic hybridization (aCGH) characterization of partial monosomy 13q (13q21.32?qter) and partial trisomy 8p (8p12?pter) presenting with anencephaly and increased nuchal translucency (NT). CASE REPORT: A 34-year-old primigravid woman was referred to the hospital at 12 weeks of gestation for termination of the pregnancy because of major ...

PubMed

58
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH
2010-06-29

BackgroundMicroarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below the resolution of conventional chromosome analysis. It has been presumed that whole-genome oligonucleotide (oligo) arrays identify more clinically ...

PubMed Central

59
Genetics and epigenetics of 1q rearrangements in hematological malignancies.
2007-01-01

Recently, we and others have described a novel class of chromosome aberrations that involves constitutive heterochromatin on human chromosome 1 (cytogenetic band 1q12). These anomalies are particularly frequent in B cell non-Hodgkins lymphoma (NHL) and multiple myeloma (MM) and, remarkably, almost invariably involve partial or total gain of chromosome 1q (including 1q12 heterochromatin) and the ...

PubMed

60
Inherited 14q duplication and 21q deletion: a rare adjacent-2 segregation in multiple family members.
2009-10-01

We present a family with multiple carriers of a subtle balanced translocation t(14;21)(q21.2;q21.2) and three patients with a resultant adjacent-2 malsegregation containing a +der(14)t(14;21)(q21.2;q21.2),-21 in their chromosome complement. The initial study was performed when a 2-month-old female was referred to genetics clinic for evaluation of developmental delay, growth retardation, and ...

PubMed

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
61
Integrative analysis of microRNA, mRNA and aCGH data reveals asbestos- and histology-related changes in lung cancer.
2011-05-11

Lung cancer has the highest mortality rate of all of the cancers in the world and asbestos-related lung cancer is one of the leading occupational cancers. The identification of asbestos-related molecular changes has long been a topic of increasing research interest. The aim of this study was to identify novel asbestos-related molecular correlates by integrating miRNA expression profiling with ...

PubMed

62
Using Free and Open-Source Bioconductor Packages to Analyze Array Comparative Genomics Hybridization (aCGH) Data
2009-03-01

Whole-genome array Comparative Genomics Hybridization (aCGH) can be used to scan chromosomes for deletions and amplifications. Because of the increased accessibility of many commercial platforms, a lot of cancer researchers have used aCGH to study tumorigenesis or to predict clinical outcomes. Each data set is typically in several hundred thousands to one ...

PubMed Central

63
Using comparative genomic hybridization to survey genomic sequence divergence across species: a proof-of-concept from Drosophila
2010-04-29

BackgroundGenome-wide analysis of sequence divergence among species offers profound insights into the evolutionary processes that shape lineages. When full-genome sequencing is not feasible for a broad comparative study, we propose the use of array-based comparative genomic hybridization (aCGH) in order to identify orthologous genes with high sequence divergence. Here we ...

PubMed Central

64
Specific genomic aberrations in primary colorectal cancer are associated with liver metastases
2010-12-02

BackgroundAccurate staging of colorectal cancer (CRC) with clinicopathological parameters is important for predicting prognosis and guiding treatment but provides no information about organ site of metastases. Patterns of genomic aberrations in primary colorectal tumors may reveal a chromosomal signature for organ specific metastases.MethodsArray Comparative Genomic ...

PubMed Central

65
Small bowel adenocarcinoma copy number profiles are more closely related to colorectal than to gastric cancers.
2011-05-17

BACKGROUND: Small bowel adenocarcinoma (SBA) is a rare cancer and consequently, the options for clinical trials are limited. As they are treated according to either a colorectal or a gastric cancer regimen and the molecular biology of a tumor is a pivotal determinant for therapy response, chromosomal copy number aberrations were compared with the colorectal and gastric adenocarcinomas. Materials ...

PubMed

66
Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.
2008-02-01

Supernumerary marker chromosomes (SMCs) are common, but their molecular content and mechanism of origin are often not precisely characterized. We analyzed all centromere regions to identify the junction between the unique chromosome arm and the pericentromeric repeats. A molecular-ruler clone panel for each chromosome arm was developed and used for the design of a custom oligonucleotide array. Of ...

PubMed

67
Mechanisms and Consequences of Small Supernumerary Marker�Chromosomes: From Barbara McClintock to Modern Genetic-Counseling Issues
2008-02-08

Supernumerary marker chromosomes (SMCs) are common, but their molecular content and mechanism of origin are often not precisely characterized. We analyzed all centromere regions to identify the junction between the unique chromosome arm and the pericentromeric repeats. A molecular-ruler clone panel for each chromosome arm was developed and used for the design of a custom oligonucleotide array. Of ...

PubMed Central

68
Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5.
2011-01-01

We describe a patient with 47,XY,del(5)(p11p13), +mar observed in prenatal screening. We performed analyses including G-banding, multi-color fluorescent in situ hybridization (mFISH) for fetal chromosome detection. After birth array-based comparative genomic hybridization (aCGH), bacterial artificial chromosome (BAC)-FISH was carried out to define the chromosomal changes ...

PubMed

69
Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
2011-05-30

Carvalho CMB, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. The potential causes for the incomplete penetrance of Pelizaeus-Merzbacher disease (PMD) in female carriers of PLP1 mutations are not well understood. We present a family with a boy ...

PubMed

70
Detection of recurrent rearrangement breakpoints from copy number data
2011-04-21

BackgroundCopy number variants (CNVs), including deletions, amplifications, and other rearrangements, are common in human and cancer genomes. Copy number data from array comparative genome hybridization (aCGH) and next-generation DNA sequencing is widely used to measure copy number variants. Comparison of copy number data from multiple individuals reveals ...

PubMed Central

71
DNA Copy Number Profiles Correlate with Outcome in Colorectal Cancer Patients Treated with Fluoropyrimidine/Antifolate-Based Regimens.
2011-07-25

For decades 5-fluorouracil (5-FU) has remained the treatment of choice in the adjuvant and palliative setting of colorectal cancer (CRC). The combinations of 5-FU or its oral prodrug capecitabine with irinotecan/oxaliplatin and the novel agents bevacizumab/cetuximab increased responses. However, the overall prognosis is poor, and predictive biomarkers of cytotoxic drugs activity are missing. ...

PubMed

72
Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
2009-03-27

Pelizaeus-Merzbacher disease (PMD; MIM#312080) is a rare X-linked recessive neurodegenerative disorder. The main cause of PMD is alterations in the proteolipid protein 1 gene (PLP1) on chromosome Xq22.2. Duplications and point mutations of PLP1 have been found in 70% and 10-25% of all patients with PMD, respectively, with a wide clinical spectrum. Since the underlining genomic abnormalities are ...

PubMed

73
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
2009-12-23

BackgroundMicrodeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with velocardiofacial syndrome (VCFS) but a subset of subjects do not show alterations of this chromosome region.MethodsWe analyzed 18 patients with VCFS-like features by comparative genomic hybridisation (aCGH) array and performed a face-to-face slide hybridization ...

PubMed Central

74
The prognostic significance of cytogenetics and molecular profiling in multiple myeloma.
2011-01-01

Multiple myeloma (MM) is a plasma cell malignancy characterized by very complex cytogenetic and molecular genetic aberrations. In newly diagnosed symptomatic patients, the modal chromosome number is usually either hyperdiploid with multiple trisomies or hypodiploid with one of several types of immunoglobulin heavy chain (Ig) translocations. The chromosome ploidy status and Ig rearrangements are ...

PubMed

75
Progressive Genomic Instability in the FVB/KrasLA2 Mouse Model of Lung Cancer.
2011-09-20

Alterations in DNA copy number contribute to the development and progression of cancers and are common in epithelial tumors. We have used array Comparative Genomic Hybridization (aCGH) to visualize DNA copy number alterations across the genomes of lung tumors in the Kras(LA2) model of lung cancer. Copy number gain involving the Kras locus, as focal amplification or whole ...

PubMed

76
Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability.
2009-08-15

In 2006, all clinical genetics practices in Northern New England (Vermont, New Hampshire, and Maine) formed a learning collaborative with the purpose of improving genetic health care and outcomes. This article describes the current status of this effort. The methodology is based on our own modifications of the Institute of Healthcare Improvement "Breakthrough Series" and the Northern New England ...

PubMed

77
Finding recurrent copy number alterations preserving within-sample homogeneity.
2011-08-25

MOTIVATION: Copy number alterations (CNAs) represent an important component of genetic variation and play a significant role in many human diseases. Development of array comparative genomic hybridization (aCGH) technology has made it possible to identify CNAs. Identification of recurrent CNAs represents the first fundamental step to provide a list of ...

PubMed

78
Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization.
2006-01-05

Copy number differences (CNDs), and the concomitant differences in gene number, have contributed significantly to the genomic divergence between humans and other primates. To assess its relative importance, the genomes of human, common chimpanzee, bonobo, gorilla, orangutan and macaque were compared by comparative genomic hybridization using a high-resolution human BAC array ...

PubMed

79
Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy.
2011-04-04

Gene-corrected patient-specific induced pluripotent stem (iPS) cells offer a unique approach to gene therapy. Here, we begin to assess whether the mutational load acquired during gene correction of iPS cells is compatible with use in the treatment of genetic causes of retinal degenerative disease. We isolated iPS cells free of transgene sequences from a patient with gyrate atrophy caused by a ...

PubMed

80
Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy
2011-04-19

Gene-corrected patient-specific induced pluripotent stem (iPS) cells offer a unique approach to gene therapy. Here, we begin to assess whether the mutational load acquired during gene correction of iPS cells is compatible with use in the treatment of genetic causes of retinal degenerative disease. We isolated iPS cells free of transgene sequences from a patient with gyrate atrophy caused by a ...

PubMed Central

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
81
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder
2009-05-15

Autism spectrum disorders (ASDs) constitute a group of severe neurodevelopmental conditions with complex multifactorial etiology. In order to explore the hypothesis that submicroscopic genomic rearrangements underlie some ASD cases, we have analyzed 96 Spanish patients with idiopathic ASD after extensive clinical and laboratory screening, by array comparative genomic hybridization ...

PubMed Central

82
A systems biology approach to defining metastatic biomarkers and signaling pathways.

Metastasis is the final stage of cancer and the primary cause of mortality for most solid malignancies. This terminal phase of cancer progression has been investigated using a variety of high-throughput technologies (i.e., gene expression arrays, array comparative genomic hybridization (aCGH), and proteomics) to identify prognostic expression profiles and better characterize ...

PubMed

83
A Bayesian Analysis for Identifying DNA Copy Number Variations Using a Compound Poisson Process
2010-09-27

To study chromosomal aberrations that may lead to cancer formation or genetic diseases, the array-based Comparative Genomic Hybridization (aCGH) technique is often used for detecting DNA copy number variants (CNVs). Various methods have been developed for gaining CNVs information based on aCGH data. However, most of these methods make use of the ...

PubMed Central

84
Center for Cancer Research - Staff Pages

A GOG 210 aCGH study of gain at 1q23 in endometrioid endometrial cancer in the context of racial disparity and outcome. Genes Chromosomes Cancer.

Cancer.gov

85
A very fast and accurate method for calling aberrations in array-CGH data.
2010-03-05

Array comparative genomic hybridization (aCGH) is a microarray technology that allows one to detect and map genomic alterations. The standard workflow of the aCGH data analysis consists of 2 steps: detecting the boundaries of the regions of changed copy number by means of a segmentation algorithm (break point identification) and then labeling each region ...

PubMed

86
Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.
2010-04-01

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder presenting with an elfin-like face, supravalvular aortic stenosis, a specific cognitive-behavioral profile, and infantile hypercalcemia. We encountered two WBS patients presenting with infantile spasms, which is extremely rare in WBS. Array comparative genomic hybridization (aCGH) and fluorescent in situ ...

PubMed

87
Ladder-Like Amplification of the Type I Interferon Gene Cluster in the Human Osteosarcoma Cell Line MG63
2008-11-15

SummaryThe organization of the type I interferon (IFN) gene cluster (9p21.3) was studied in a human osteosarcoma cell line (MG63). Array comparative genomic hybridization (aCGH) showed an amplification of ~six-fold which ended at both ends of the gene cluster with a deletion that extended throughout the 9p21.3 band. Spectral karyotyping (SKY) combined with fluorescence in situ ...

PubMed Central

88
Chromosomal copy number alterations are associated with tumor response to chemoradiation in locally advanced rectal cancer.
2011-05-16

Rectal cancer response to chemoradiation (CRT) varies from no response to a pathologic complete response (pCR). Identifying predictive biomarkers of response would therefore be useful. We assessed whether chromosomal copy number alterations (CNAs) can assist in predicting pCR. Pretreatment tumor biopsies and paired normal surgical tissues from the proximal resection margin were collected from 95 ...

PubMed

89
Industrial fuel ethanol yeasts contain adaptive copy number changes in genes involved in vitamin B1 and B6 biosynthesis.
2009-11-06

Fuel ethanol is now a global energy commodity that is competitive with gasoline. Using microarray-based comparative genome hybridization (aCGH), we have determined gene copy number variations (CNVs) common to five industrially important fuel ethanol Saccharomyces cerevisiae strains responsible for the production of billions of gallons of fuel ethanol per year from sugarcane. ...

PubMed

90
Industrial fuel ethanol yeasts contain adaptive copy number changes in genes involved in vitamin B1 and B6 biosynthesis
2009-12-01

Fuel ethanol is now a global energy commodity that is competitive with gasoline. Using microarray-based comparative genome hybridization (aCGH), we have determined gene copy number variations (CNVs) common to five industrially important fuel ethanol Saccharomyces cerevisiae strains responsible for the production of billions of gallons of fuel ethanol per year from sugarcane. ...

PubMed Central

91
Loss of 3p26.3 is an independent prognostic factor in patients with oral squamous cell carcinoma.
2011-05-26

Oral squamous cell carcinoma (OSCC) is a common malignancy worldwide and the prognosis for patients with advanced-stage OSCC is particularly poor. To identify DNA copy number aberrations and candidate genes associated with a poor or favorable outcome, we analyzed the genome profiles of OSCC tumors by array-based comparative genomic hybrid-ization (A-CGH). This technique uses ...

PubMed

92
A shifting level model algorithm that identifies aberrations in array-CGH data.
2009-11-30

Array comparative genomic hybridization (aCGH) is a microarray technology that allows one to detect and map genomic alterations. The goal of aCGH analysis is to identify the boundaries of the regions where the number of DNA copies changes (breakpoint identification) and then to label each region as loss, neutral, or gain (calling). In this paper, we ...

PubMed

93
Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas.
2008-07-16

Chromosome 14 loss in meningiomas are associated with more aggressive tumour behaviour. To date, no studies have been reported in which the entire chromosome 14q of meningioma tumour cells has been studied by high-resolution array comparative genomic hybridization (a-CGH). Here, we used a high-resolution a-CGH to define the exact localization and extent of ...

PubMed

94
FATIGUE CRACK RETARDATION AND CLOSURE IN ...
1973-03-01

... DISPLACEMENTS DURING LOADING REVEALED THAT SIGNIFICANT TENSILE LOAD WAS REQUIRED ... DISCUSSED IN LIGHT OF THE ...

DTIC Science & Technology

95
ACD Publication - NASA

Dec 14, 2005 ... Analyses revealed no significant difference in performance in performance between the two doses of promethazine. ...

NASA Website

96
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.
2011-08-22

BACKGROUND Diminished ovarian reserve (DOR) is a heterogeneous disorder causing infertility, characterized by a decreased number of oocytes, the genetic cause of which is still unknown. METHODS AND RESULTS We describe a family with a new unbalanced X;18 translocation der(X) associated with either fully attenuated or DOR phenotype in the same family. Cytogenetics and array comparative genomic ...

PubMed

97
Scatter Plot of Mini Dry Run DNA Measurements

The raw data format for the Agilent aCGH arrays is determined by the Feature Extraction program provided by Agilent. The files are tab delimited text files with one sample per file (called here a FE-file).

Cancer.gov

98
NCICB GForge: caIntegrator2: Detail: 22999 USBAT add annotations at the genomic sample level, and be able to query that data.

For an example of a microarray experiment which has multiple samples associated to a subject, see the TCGA aCGH experiment which has two tissue samples associated with each subject.

Cancer.gov

99
A critical assessment of cross-species aCGH for detection of1 gene duplicates2

symbiont: Giuntini et al. 2005; Clostridium difficile host specificity: Janvilisri et al. 2009. Microarray Identification of Clostridium difficile Core476 Components and Divergent Regions Associated

E-print Network

100
NCI Funded Research Portfolio - ZIA BC 010592 Detail

Recurrent non-random genomic alterations are the hallmarks of cancer and the characterization of these imbalances is critical to our understanding of tumorigenesis and cancer progression. We are performing Array-comparative genomic hybridization (A-CGH) on cDNA microarrays containing 42,000 elements in neuroblastoma. We are developing a novel probabilistic algorithm, called ...

Cancer.gov

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
101
NCI Funded Research Portfolio - Z01 BC 010592 Detail

Recurrent non-random genomic alterations are the hallmarks of cancer and the characterization of these imbalances is critical to our understanding of tumorigenesis and cancer progression. We are performing Array-comparative genomic hybridization (A-CGH) on cDNA microarrays containing 42,000 elements in neuroblastoma. We are developing a novel probabilistic algorithm, called ...

Cancer.gov

102
Magnetic resonance angiogram and imaging.
2000-01-01

Reports from specialized medical tests may often reveal findings that are ambiguous. In this article, the significance of punctate signal changes and ischemia revealed by magnetic resonance scanning are discussed. PMID:15912911

PubMed

103
Getting it right: designing microarray (and not 'microawry') comparative genomic hybridization studies for cancer research.
2007-06-11

The development of high-resolution microarray-based comparative genomic hybridization (aCGH), using cDNA, bacterial artificial chromosome (BAC) and oligonucleotide probes, is providing tremendous opportunities for translational research by facilitating detailed analysis of entire cancer genomes in a single experiment. However, this technology will only fulfil its promise if ...

PubMed

104
Gene-resolution analysis of DNA copy number variation using oligonucleotide expression microarrays
2007-04-30

BackgroundArray-based comparative genomic hybridization (aCGH) is a high-throughput method for measuring genome-wide DNA copy number changes. Current aCGH methods have limited resolution, sensitivity and reproducibility. Microarrays for aCGH are available only for a few organisms and combination of aCGH data with ...

PubMed Central

105
A bayesian analysis for identifying DNA copy number variations using a compound poisson process.
2010-09-27

To study chromosomal aberrations that may lead to cancer formation or genetic diseases, the array-based Comparative Genomic Hybridization (aCGH) technique is often used for detecting DNA copy number variants (CNVs). Various methods have been developed for gaining CNVs information based on aCGH data. However, most of these methods make use of the ...

PubMed

106
Marfanoid hypermobility caused by an 862?kb deletion of Xq22.3 in a patient with Sotos syndrome.
2011-08-10

Sotos syndrome is a rare genetic disorder characterized by overgrowth associated with macrocephaly and delayed psychomotor development. Patients with Sotos syndrome show 5q35 deletions involving NSD1 or its point mutations. We identified the common 5q35 deletion in a patient with atypical Sotos syndrome manifesting extremely severe developmental delay, joint hypermobility, and skin ...

PubMed

107
Analyses of Copy Number Variation of GK Rat Reveal New Putative Type 2 Diabetes Susceptibility Loci
2010-11-23

Large efforts have been taken to search for genes responsible for type 2 diabetes (T2D), but have resulted in only about 20 in humans due to its complexity and heterogeneity. The GK rat, a spontanous T2D model, offers us a superior opportunity to search for more diabetic genes. Utilizing array comparative genome hybridization (aCGH) technology, we identifed 137 non-redundant ...

PubMed Central

108
A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
2010-12-31

Submicroscopic duplications of the genomic interval deleted in Miller-Dieker syndrome (MDS) were recently identified by array-based comparative genomic hybridization (a-CGH) studies, describing new genomic disorders in the MDS locus. These rearrangements of varying size, from 59-88 kb to 4 Mb, were non-recurrent, and appear to result from diverse molecular mechanisms. Only ...

PubMed

109
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism
2009-09-01

Genetic studies in patients with severe early-onset obesity have provided insights into the molecular and physiological pathways that regulate body weight in humans. We report a 19-year-old male with hyperphagia and severe obesity, mild learning difficulties and hypogonadism, in whom diagnostic tests for Prader�Willi syndrome (PWS) had been negative. We carried out detailed clinical and ...

PubMed Central

110
Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
2010-12-20

Mitochondrial DNA (mtDNA) deletions are a common cause of mitochondrial disorders. Large mtDNA deletions can lead to a broad spectrum of clinical features with different age of onset, ranging from mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (KSS), to severe Pearson syndrome. The aim of this study is to investigate the molecular ...

PubMed Central

111
Potential Associations between Severity of Infection and the Presence of Virulence-Associated Genes in Clinical Strains of Staphylococcus aureus
2011-04-26

BackgroundThe clinical spectrum of Staphylococcus aureus infection ranges from asymptomatic nasal carriage to osteomyelitis, infective endocarditis (IE) and death. In this study, we evaluate potential association between the presence of specific genes in a collection of prospectively characterized S. aureus clinical isolates and clinical outcome.Methodology/Principal FindingsTwo hundred ...

PubMed Central

112
Genetic and Phenotypic Characteristics of Pleomorphic Lobular Carcinoma In Situ of the Breast
2009-11-01

The clinical, pathologic, and molecular features of pleomorphic lobular carcinoma in situ (PLCIS) and the relationship of PLCIS to classic LCIS (CLCIS) are poorly defined. In this study, we analyzed 31 cases of PLCIS (13 apocrine and 18 non-apocrine subtypes) and compared the clinical, pathologic, immunophenotypic and genetic characteristics of these cases with those of 24 cases of CLCIS. ...

PubMed Central

113
Evaluating oligonucleotide properties for DNA microarray probe design
2010-06-17

Most current microarray oligonucleotide probe design strategies are based on probe design factors (PDFs), which include probe hybridization free energy (PHFE), probe minimum folding energy (PMFE), dimer score, hairpin score, homology score and complexity score. The impact of these PDFs on probe performance was evaluated using four sets of microarray comparative genome hybridization ...

PubMed Central

114
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
2011-01-19

Non-allelic homologous recombination (NAHR) between segmental duplications in proximal chromosome 15q breakpoint (BP) regions can lead to microdeletions and microduplications. Several individuals with deletions flanked by BP3 and BP4 on 15q13, immediately distal to, and not including the Prader-Willi/Angelman syndrome (PW/AS) critical region and proximal to the BP4-BP5 15q13.3 microdeletion ...

PubMed

115
The pitfalls of platform comparison: DNA copy number array technologies assessed
2009-12-08

BackgroundThe accurate and high resolution mapping of DNA copy number aberrations has become an important tool by which to gain insight into the mechanisms of tumourigenesis. There are various commercially available platforms for such studies, but there remains no general consensus as to the optimal platform. There have been several previous platform comparison studies, but they have either ...

PubMed Central

116
NO EVIDENCE THAT POLYANDRY BENEFITS FEMALES IN DROSOPHILA MELANOGASTER

... ratio, were not significantly associated with male size (Table 5). Within subjects ANOVA revealed no significant effects of male-mating ... ...

NBII National Biological Information Infrastructure

117
Three-dimensional ionospheric plasma circulation
1992-01-01

Examination of the ion drift velocity vector measured on the DE2 spacecraft reveals the significance

NASA Technical Reports Server (NTRS)

118
The Hot Horizontal-Branch Stars in omega Centauri
2010-01-01

Context. UV observations of some massive globular clusters have revealed a significant population of

NASA Technical Reports Server (NTRS)

119
Reprocessing of a Global GPS Network

Reprocessing of a Global GPS Network .... Comparison with daily networks of reprocessing ... Reprocessing results reveal significant improvements in ...

NASA Website

120
Photonics and Nonlinear Optics with Molecular Materials and ...
1993-02-28

... having five intervening layers of arachidic acid and revealed a significant decrease in the percent polymerization of the latter. ...

DTIC Science & Technology

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
121
Personality Types and Affinity for Computers
1991-03-01

... significant differences between personality types and affinity for computers. The findings also revealed a common personality type for respondents ...

DTIC Science & Technology

122
PROCESSING OF BLACK CARBON IN THE MIXED SACRAMENTO URBAN-BIOGENIC ENVIRONMENT

comparison reveals that the nascent Sacra- mento BC emissions undergo a significant amount of processing

E-print Network

123
Observations of significant magnetosheath antisolar energy flow
1979-01-01

Results from the Imp 7 satellite reveal antisolar magnetosheath ion flows of 10 to the 18th to 10 to

NASA Technical Reports Server (NTRS)

124
Mission to Mars - NASA

Telemetry Priorities in Design. Another significant mass tradeoff was in the telemetry design. When testing revealed amplifier vulnerability to vibration ...

NASA Website

125
Iran's Nuclear Program: Recent Developments
2004-03-04

... have revealed significant undeclared Iranian efforts in uranium enrichment (including centrifuge, atomic vapor laser isotope separation and ...

DTIC Science & Technology

126
Investigating Long-term Behavior of Outlet Glaciers in Greenland
2005-01-01

Repeat surveys by airborne laser altimetry in the 1990s have revealed significant thinning of outlet

NASA Technical Reports Server (NTRS)

127
Function of Estrogen Receptor Tryosine Phosphorylation
1999-07-01

... Abstract : A biochemical analysis of a tyrosine 537 to phenylalanine mutation in the human estrogen receptor (hER) revealed no significant ...

DTIC Science & Technology

128
Eighth International Symposium on Applications of Laser ...
1996-07-11

... on Applications of Laser Techniques to Fluids Mechanics, which was held ... for flow measurements, and reveal significant results to fluid mechanics. ...

DTIC Science & Technology

129
Developmental Toxicity of OTTO Fuel II in the Rat and Rabbit

... necropsy. Morphological examination of both rat and rabbit fetuses faded to reveal significant evidence of fetal malformations. ...

DTIC Science & Technology

130
Comparing the Radiometric Behavior of LISS III Data - MODIS Website

Statistical analysis of radiometric and landscape characteristics revealed a significant difference in the investigated dataset and their usability for ...

NASA Website

131
Companion Animal Attachment Its Influence Upon the ...

... revealed a weak, positive relationship between loneliness and attachment that was not ... The results showed a significant difference in means on the ...

DTIC Science & Technology

132
Characterization of Explosives Processing Waste ...
1990-01-31

... in the presence of the compost caused them to decompose. ... not reveal significant differences in growth of the ... a technique (21) utilizing bacteria as a ...

DTIC Science & Technology

133
Bioluminescence Source Emission Characterization.
1995-09-30

... Ceratocorys horrida revealed that this species exhibited circadian rhythms in both ... Unialgal red tide dinoflagellate diet significantly affected the total ...

DTIC Science & Technology

134
A Study of the Nephrotoxicity and Metabolism of Tetralin and ...
1988-02-08

... Histopathology of the kidneys revealed significant damage to the renal tubules of the dosed male rats compared to control male rats dosed with ...

DTIC Science & Technology

135
A Definition Study for Improving Inventory Control and ...
1988-02-21

... of the B329 inventory control and handling procedures revealed that significant benefits could be gained through the use of computer controlled ...

DTIC Science & Technology

136
3 - NASA Technical Reports Server

Mar 1, 2011 ... Photon absorptiometry revealed significant density increases in selective regions of the femur and humerus of centrifuged dogs. ...

NASA Website

137
PARK2 deletions occur frequently in sporadic colorectal cancer and accelerate adenoma development in Apc mutant mice.
2010-08-09

In 100 primary colorectal carcinomas, we demonstrate by array comparative genomic hybridization (aCGH) that 33% show DNA copy number (DCN) loss involving PARK2, the gene encoding PARKIN, the E3 ubiquitin ligase whose deficiency is responsible for a form of autosomal recessive juvenile parkinsonism. PARK2 is located on chromosome 6 (at 6q25-27), a chromosome with one of the ...

PubMed

138
PARK2 deletions occur frequently in sporadic colorectal cancer and accelerate adenoma development in Apc mutant mice
2010-08-09

In 100 primary colorectal carcinomas, we demonstrate by array comparative genomic hybridization (aCGH) that 33% show DNA copy number (DCN) loss involving PARK2, the gene encoding PARKIN, the E3 ubiquitin ligase whose deficiency is responsible for a form of autosomal recessive juvenile parkinsonism. PARK2 is located on chromosome 6 (at 6q25�27), a chromosome with one of the ...

PubMed Central

139
Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting.
2010-08-01

This study was an investigation of 90 patients referred to the Wessex Regional Genetics Laboratory for and negative by molecular cytogenetic analysis using array comparative genomic hybridization. This patient cohort represents typical referrals to a regional genetic centre. Methylation analysis was performed at 13 imprinted loci [PLAGL1, IGF2R, MEST, GRB10, H19, IGF2 DMR2 (IGF2P0), KCNQ1OT1 ...

PubMed

140
Heterozygous deletion at the RLN1 locus in a family with testicular germ cell cancer identified by integrating copy number variation data with phenome and interactome information.
2011-06-22

To search for disease-related copy number variations (CNVs) in families with a high frequency of germ cell tumours (GCT), we analysed 16 individuals from four families by array comparative genomic hybridization (aCGH) and applied an integrative systems biology algorithm that prioritizes risk-associated genes among loci targeted by CNVs. The top-ranked candidate, RLN1, encoding ...

PubMed

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
141
Global Chromosomal Structural Instability in a Subpopulation of Starving Escherichia coli Cells.
2011-08-25

Copy-number variations (CNVs) constitute very common differences between individual humans and possibly all genomes and may therefore be important fuel for evolution, yet how they form remains elusive. In starving Escherichia coli, gene amplification is induced by stress, controlled by the general stress response. Amplification has been detected only encompassing genes that confer a growth ...

PubMed

142
Global Chromosomal Structural Instability in a Subpopulation of Starving Escherichia coli Cells
2011-08-25

Copy-number variations (CNVs) constitute very common differences between individual humans and possibly all genomes and may therefore be important fuel for evolution, yet how they form remains elusive. In starving Escherichia coli, gene amplification is induced by stress, controlled by the general stress response. Amplification has been detected only encompassing genes that confer a growth ...

PubMed Central

143
Genetic determinants of autism in individuals with deletions of 18q.
2010-05-25

Previous research has suggested that individuals with constitutional hemizygosity of 18q have a higher risk of autistic-like behaviors. We sought to identify genomic factors located on chromosome 18 as well as other loci that correlate with autistic behaviors. One hundred and five individuals with 18q- were assessed by high-resolution oligo aCGH and by parental ratings of ...

PubMed

144
Exploratory Analysis of the Copy Number Alterations in Glioblastoma Multiforme
2008-12-30

BackgroundThe Cancer Genome Atlas project (TCGA) has initiated the analysis of multiple samples of a variety of tumor types, starting with glioblastoma multiforme. The analytical methods encompass genomic and transcriptomic information, as well as demographic and clinical data about the sample donors. The data create the opportunity for a systematic screening of the components of the molecular ...

PubMed Central

145
Determining and interpreting new predictive rules for breast cancer familial inheritance.
2011-02-14

DNA copy number alterations have been discovered to be key genetic events in development and progression of cancer. No clear data of familial and sporadic breast cancer are available. We focused on looking for an independent platform as a tool to identify the chromosomal profile in familial versus sporadic breast cancer patients. A total of 124 breast cancer patients were studied utilizing ...

PubMed

146
Complex genomic alterations and gene expression in acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21
2006-05-23

We have previously identified a unique subtype of acute lymphoblastic leukemia (ALL) associated with a poor outcome and characterized by intrachromosomal amplification of chromosome 21 including the RUNX1 gene (iAMP21). In this study, array-based comparative genomic hybridization (aCGH) (n = 10) detected a common region of amplification (CRA) between 33.192 and 39.796 Mb and a ...

PubMed Central

147
Cardiac Defects Are Infrequent Findings in Individuals with 8p23.1 Genomic Duplications Containing GATA4.
2011-09-20

BACKGROUND: -GATA4 is a critical gene regulating myocardial differentiation and function. Haploinsufficiency of GATA4 are strongly associated with congenital heart defects (CHD). However it is inconclusive whether duplicated GATA4 may cause CHD. METHODS AND RESULTS: -We evaluated 1,645 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based ...

PubMed

148
Validation of Multiplex Ligation-Dependent Probe Amplification for Confirmation of Array Comparative Genomic Hybridization.
2011-08-01

The American College of Medical Genetics recommends that each laboratory should confirm abnormal or ambiguous results detected by array comparative genomic hybridization (aCGH). At present, the gold standard method for aCGH confirmation is fluorescent in situ hybridization (FISH). However, FISH is not well suited for small tandem duplications or very small ...

PubMed

149
Bayesian Random Segmentation Models to Identify Shared Copy Number Aberrations for Array CGH Data
2010-12-01

Array-based comparative genomic hybridization (aCGH) is a high-resolution high-throughput technique for studying the genetic basis of cancer. The resulting data consists of log fluorescence ratios as a function of the genomic DNA location and provides a cytogenetic representation of the relative DNA copy number variation. Analysis of such data typically involves estimation of ...

PubMed Central

150
aCGH.Spline--an R package for aCGH dye bias normalization.
2011-02-25

MOTIVATION: The careful normalization of array-based comparative genomic hybridization (aCGH) data is of critical importance for the accurate detection of copy number changes. The difference in labelling affinity between the two fluorophores used in aCGH-usually Cy5 and Cy3-can be observed as a bias within the intensity distributions. If left unchecked, this bias is likely to ...

PubMed

151
[Array-CGH for routine diagnosis of cryptic chromosomal imbalances].
2008-06-02

Cytogenetics allows detection of genomic anomalies between 10 and 15 Mb (classical cytogenetics) and between 3 and 5 Mb (high-resolution cytogenetics). These pangenomic techniques are associated with more accurate analyses, single probe interstitial FISH and subtelomeric studies. Array-CGH (aCGH) allows high resolution pangenomic analyses. BAC/PAC and oligonucleotides ...

PubMed

152
High-throughput genomic analysis in Waldenstr�m's macroglobulinemia.
2011-02-01

Single-nucleotide polymorphism array (SNPa) and array-based comparative genomic hybridization (aCGH) are among the most sensitive genomic high-throughput screening techniques used in the exploration of genetic abnormalities in Waldenstr�m's macroglobulinemia (WM). SNP and aCGH allow the identification of copy number abnormalities (CNA) at the kilobase ...

PubMed

153
Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases
2007-03-28

BackgroundArray Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis. We report our experience with the clinical implementation of this high resolution human genome analysis, referred to as Chromosomal Microarray Analysis (CMA).Methods and FindingsCMA was performed ...

PubMed Central

154
doi:10.1016/j.canlet.2004.12.056

Received 24 November 2004; accepted 14 December 2004 Abstract Neuroblastoma (NB) is one of the most common pediatric solid tumors and displays a broad variety of genomic alterations. Array-based comparative genomic hybridization (A-CGH) is a novel technology enabling the high-resolution detection of DNA copy number aberrations. In this article, we outline features of this new ...

Cancer.gov

155
Findings From aCGH in Patients With Congenital Diaphragmatic Hernia (CDH): A Possible Locus for Fryns Syndrome
2006-01-01

Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array-based comparative genomic hybridization (aCGH) of ?1Mb resolution to 29 CDH patients with prior normal karyotypes who had been ...

PubMed Central

156
Microarray karyotyping of commercial wine yeast strains reveals shared, as well as unique, genomic signatures
2005-04-16

BackgroundGenetic differences between yeast strains used in wine-making may account for some of the variation seen in their fermentation properties and may also produce differing sensory characteristics in the final wine product itself. To investigate this, we have determined genomic differences among several Saccharomyces cerevisiae wine strains by using a "microarray karyotyping" (also known as ...

PubMed Central

157
A Teratocarcinoma-Like Human Embryonic Stem Cell (hESC) Line and Four hESC Lines Reveal Potentially Oncogenic Genomic Changes
2010-04-23

The first Swiss human embryonic stem cell (hESC) line, CH-ES1, has shown features of a malignant cell line. It originated from the only single blastomere that survived cryopreservation of an embryo, and it more closely resembles teratocarcinoma lines than other hESC lines with respect to its abnormal karyotype and its formation of invasive tumors when injected into SCID mice. The aim of this study ...

PubMed Central

158
A Comprehensive Genetic Analysis of Candidate Genes Regulating Response to Trypanosoma congolense Infection in Mice
2010-11-09

BackgroundAfrican trypanosomes are protozoan parasites that cause �sleeping sickness� in humans and a similar disease in livestock. Trypanosomes also infect laboratory mice and three major quantitative trait loci (QTL) that regulate survival time after infection with T. congolense have been identified in two independent crosses between susceptible A/J and BALB/c mice, and the resistant ...

PubMed Central

159
High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer
2007-10-07

BackgroundThe characterization of copy number alteration patterns in breast cancer requires high-resolution genome-wide profiling of a large panel of tumor specimens. To date, most genome-wide array comparative genomic hybridization studies have used tumor panels of relatively large tumor size and high Nottingham Prognostic Index (NPI) that are not as representative of breast cancer ...

PubMed Central

160
Genome-wide combination profiling of DNA copy number and methylation for deciphering biomarkers in non-small cell lung cancer patients.
2011-06-24

Early detection of lung cancer provides the highest potential for saving lives. To date, no routine screening method enabling early detection is available, which is a key factor in the disease's high mortality rate. Copy number changes and DNA methylation alterations are good indicators of carcinogenesis and cancer prognosis. In this study, we attempted to combine profiles of DNA copy number and ...

PubMed

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
161
Combined use of expression and CGH arrays pinpoints novel candidate genes in Ewing sarcoma family of tumors
2009-01-14

BackgroundEwing sarcoma family of tumors (ESFT), characterized by t(11;22)(q24;q12), is one of the most common tumors of bone in children and young adults. In addition to EWS/FLI1 gene fusion, copy number changes are known to be significant for the underlying neoplastic development of ESFT and for patient outcome. Our genome-wide high-resolution analysis aspired to pinpoint ...

PubMed Central

162
Geophysics and Deep Coreholes Reveal Anatomy and Complex Infilling of the Central Crater, Chesapeake Bay Impact Structure, U.S.A
2008-01-01

Seismic and corehole studies within the Chesapeake Bay impact structure reveal that target asymmetry significantly affected the complex infilling of the crater.

NASA Astrophysics Data System (ADS)

163
CYP2A6 Polymorphism Reveals Differences in Japan and the Existence of a Specific Variant in Ovambo and Turk Populations

... was not homozygous in the Tottori and Shimane groups. An interpopulation comparison by the R � C contingency test revealed a significant difference between Tottori and ... ...

NBII National Biological Information Infrastructure

164
CLASSIFICATION TECHNIQUES FOR AUTISTIC VS. TYPICALLY DEVELOPING BRAIN USING MRI DATA

abnormalities in male patients with autism. This study revealed significant reductions in both the splenium ABSTRACT Autism is a neurodevelopmental disorder that disrupts social and cognitive functions. Various autism studies revealed ab- normalities in several brain regions. There is an increasing agreement from

E-print Network

165
Using a CGH to Study Genetic Variability in Two Pathogenic Molds, Aspergillus fumigatus and Aspergillus flavus

Intraspecific molecular divergence is the basis of all sequence-based typing methods employed in many clinical laboratories to differentiate strains of pathogenic fungi. We have examined the feasibility of using array comparative genomic hybridization (aCGH) approaches to explore the extent of gene...

Technology Transfer Automated Retrieval System (TEKTRAN)

166
Joint segmentation of many aCGH profiles using fast group LARS Kevin Bleakley a,b,c and Jean-Philippe Vert a,b,c

of chromosome 3 in uveal melanoma [20], loss of chro- mosome 9 in bladder carcinomas [1], loss of 1p and gain in uveal melanomas detected by comparative genomic hybridization. Clin. Cancer Res., 11:7012�7022, 2005. 12

E-print Network

167
Identifying heterokaryon incompatibility loci in Aspergillus flavus and Aspergillus parasiticus using array-Comparative Genome Hybridization (aCGH)

Heterokaryon incompatibility is the inability of two strains to undergo fusion of vegetative fungal cells. This vegetative compatibility system is dictated by a series of heterokaryon incompatibility (het) loci whose alleles must all be identical for stable hyphal fusions to occur. Het loci have be...

Technology Transfer Automated Retrieval System (TEKTRAN)

168
Identification of DNA copy number aberrations associated with metastases of colorectal cancer using array CGH profiles.
2009-01-15

It is important to estimate the biological characteristics of tumors, including the nodal status at the time of diagnosis for optimal treatment of individual cancer patients. Array-based comparative genomic hybridization (aCGH) was performed on 77 sporadic colorectal adenocarcinomas using a chip spotted with 4030 BAC clones. The nodal status was compared with an ...

PubMed

169
Handling Translation Divergences: Combining Statistical and ...
2002-05-01

... V5X`YDv� d#f§s� ftu5u5acghs v' wxW'bf Y¥� f§ ��`pcY'� �X`acpcY| f� u5�`' ¥YId¥Vg d#f§s� VBft{'Y� W'sg ¥�`u V� f§7W'�`V f§sUv¡ VX`Y# yf ...

DTIC Science & Technology

170
Genomic alterations in primary breast cancers compared with their sentinel and more distal lymph node metastases: an aCGH study.
2009-12-01

Metastatic potential of breast cancer may be associated with specific genomic alterations and the earliest metastases are likely to be found in the sentinel lymph nodes (SLN). Using array comparative genomic hybridization (aCGH), we compared the genomes of primary breast invasive duct carcinomas (IDCs), their sentinel and more distal lymph node metastases, and IDCs without ...

PubMed

171
Customized Oligonucleotide Array-Based Comparative Genomic Hybridization as a Clinical Assay for Genomic Profiling of Chronic Lymphocytic Leukemia
2009-01-01

Chromosome gains and losses used for risk stratification in chronic lymphocytic leukemia (CLL) are commonly assessed by multiprobe fluorescence in situ hybridization (FISH) studies. We designed and validated a customized array-comparative genomic hybridization (aCGH) platform as a clinical assay for CLL genomic profiling. A 60-mer, 44,000-probe oligonucleotide array with a ...

PubMed Central

172
1.3 Mb de novo Deletion in Chromosome Band 3q29 Associated with Normal Intelligence in a Child.
2010-01-01

We report on a 6 and 9/12 year-old male patient with a de novo chromosome 3q29 microdeletion identified by BAC array comparative genomic hybridization assay (aCGH), with accompanying normal 46,XY high-resolution chromosome analysis. The patient has langua...

National Technical Information Service (NTIS)

173
Human copy number polymorphic genes
2009-03-01

Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potentially copy number polymorphic genes have been produced that are candidates for disease association. Most of the current data regarding normal genic variation, however, has been ...

PubMed Central

174
Heterogeneity of mammary lesions represent molecular differences
2006-12-05

BackgroundHuman breast cancer is a heterogeneous disease, histopathologically, molecularly and phenotypically. The molecular basis of this heterogeneity is not well understood. We have used a mouse model of DCIS that consists of unique lines of mammary intraepithelial neoplasia (MIN) outgrowths, the premalignant lesion in the mouse that progress to invasive carcinoma, to understand the molecular ...

PubMed Central

175
Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.
2010-03-23

Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental syndrome characterized by hyperactivity, inattention and increased impulsivity. To detect micro-deletions and micro-duplications that may have a role in the pathogenesis of ADHD, we carried out a genome-wide screen for copy number variations (CNVs) in a cohort of 99 children and adolescents with severe ...

PubMed

176
An initial comparative map of copy number variations in the goat (Capra hircus) genome
2010-11-17

BackgroundThe goat (Capra hircus) represents one of the most important farm animal species. It is reared in all continents with an estimated world population of about 800 million of animals. Despite its importance, studies on the goat genome are still in their infancy compared to those in other farm animal species. Comparative mapping between cattle and goat showed only a few rearrangements in ...

PubMed Central

177
An aCGH classifier derived from BRCA1-mutated breast cancer and benefit of high-dose platinum-based chemotherapy in HER2-negative breast cancer patients
2011-07-06

Background: Breast cancer cells deficient for BRCA1 are hypersensitive to agents inducing DNA double-strand breaks (DSB), such as bifunctional alkylators and platinum agents. Earlier, we had developed a comparative genomic hybridisation (CGH) classifier based on BRCA1-mutated breast cancers. We hypothesised that this BRCA1-likeCGH classifier could also detect loss of ...

PubMed Central

178
Window Glass in Windstorms.
1974-01-01

Studies of the behavior of window glass in windstorms have revealed that significant numbers of window glass failures may be attributed to windborne missiles. In addition to detailed discussions of the role of windborne missiles in window failure incident...

National Technical Information Service (NTIS)

179
Variations in the 3 micron spectrum across the Orion Bar: polycyclic aromatic hydrocarbons and related molecules
1997-01-01

Long-slit spectra across the Orion Bar reveal significant differences in the spatial behavior of the

NASA Technical Reports Server (NTRS)

180
Variations in the 3 Micron Spectrum Across the Orion Bar: PAHS and Related Molecules
1996-01-01

Long-slit spectra across the Orion Bar reveal significant differences in the spatial behavior of the

NASA Technical Reports Server (NTRS)

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page
 
181
Unravelling the Pathophysiology of Male Pattern Baldness
1985-02-01

The cause of male pattern baldness remains unknown. The author discusses its possible pathophysiology and its therapy. A case revealing significant points is described.

PubMed Central

182
Unraveling Complexity of Haiti Quake Reveals Hidden Faults and Future Hazards

... over 200,000 casualties also resulted in significant uplift of the ground surface along Haiti�s coastline, and involved slip ... ...

NBII National Biological Information Infrastructure

183
Transportation Needs of the Handicapped: Travel Barriers.
1969-01-01

This report is a comprehensive study of the transportation needs of the physically handicapped. The study revealed that a significant proportion of the handicapped and aging populations are denied equal opportunities to work, shop and participate in socia...

National Technical Information Service (NTIS)

184
The Relative Importance of Phase and Amplitude in Acoustical Holography.
1968-01-01

The paper contains a description of experiments in which conventional holograms are compared with 'phase only' holograms, in which the object wave amplitude was normalized to a constant quantity. These experiments revealed that there is no significant dif...

National Technical Information Service (NTIS)

185
The Midwest flood of 1993: did trees protect levees along the ...

Jun 16, 2011 ... A systematic sample of levee failures revealed that primary levees which did not fail had a significantly wider woody corridor than failed ...

Treesearch

186
The Impact of Hearing Protection on Sound Localization and ...
2005-06-01

... ABSTRACT The effect of hearing protection devices (HPDs) on ... revealed significant main effects of HPD for both ... varies with the type of device worn. ...

DTIC Science & Technology

187
The Effects of Graphite Flakes in Soil on Terrestrial Plants
1990-09-01

... mean plant heights for cucumbers indicated a ... mean dry weights of cucumber plants revealed ... This study indicates that graphite flakes significantly ...

DTIC Science & Technology

188
Skin and Abdominal Fascia Melanization in Broiler Chickens

... pigmentation of the shanks. Histopathology revealed accumulation of melanin in these tissues. No significant bacteria were isolated. Accumulation of melanin in the skin and fascia is because of ... ...

NBII National Biological Information Infrastructure

189
Radiation Sensitization via Inhibiting Survival of Prostate ...
2008-02-01

... Genotyping of various single nucleotide polymorphisms (SNPs) revealed that a SNP from EGFR and another SNP from MMP7 were significantly ...

DTIC Science & Technology

190
RESEARCH, DEVELOPMENT AND FABRICATION OF AN ...
1964-05-07

... 600C for 1-3/4 hr. did not reveal that a significant amount of autohydrolysis had taken place. During operation at 4:C, we ...

DTIC Science & Technology

191
QUASI-FREE PROTON-PROTON SCATTERING IN LIGHT ...
1962-10-15

... 1 ie results revealed the details of nuclear structure in an unusually cflar l way ad esta.'i ihes this technique as one with the greatest significance for ...

DTIC Science & Technology

192
NASA Spaceport Engineering and Technology Directorate Labs and ...

adjacent base metal did not reveal any significant indications. Two of the ... 5.1 The sensitization observed (chromium carbide formation along grain ...

NASA Website

193
Microstructural Characterization of Foil-Gage Haynes (register ...
2010-01-01

... Fractography of the tensile specimens revealed evidence of significant plasticity, localized ... Microstructural Characterization of Foil-gage Haynes ...

DTIC Science & Technology

194
Issues of Mental Competency in the Military (and Mock Sanity ...
2011-05-14

... DAVIDSON, HS: The Coach, Yes, The Umpire, No ... verbalize any significant areas of emotional disturbances or concern, personality testing revealed ...

DTIC Science & Technology

195
Investigating the Role of FIP200 in Mammary Carcinogenesis ...
2006-04-01

... not reveal any significant and sustained differences in ... contrast, WFCKO females can sustain normal-sized ... and have difficulty sustaining their litters ...

DTIC Science & Technology

196
In-vitro Retinal Model Reveals a Sharp Transition between ...
2010-05-07

... the theory of a significant thermal component in the damage generated by ... and exposure duration, can influence when cells are damaged by purely ...

DTIC Science & Technology

197
Detailed Physical Modeling Reveals the Magnetar Na- ture of a ...

of a magnetar significantly increases the optical depth to electron ... model capturesall the relevant physical effectsthat take place on a magnetar. At the ...

NASA Website

198
Comparison of the PKT and SPA regions of the Moon revealed through ...

In addition to the South Pole-Aitken basin, an older, significantly larger, impact basin has been proposed in the Procellarum-Imbrium region located near ...

NASA Website

199
Cassini Finds an Atmosphere on ... - NASA Jet Propulsion Laboratory

Mar 16, 2005 ... The Cassini spacecraft's two close flybys of Saturn's icy moon Enceladus have revealed that the moon has a significant atmosphere. Scientists ...

NASA Website

200
An Allometric Analysis of Ontogenetic Changes (Variation) in the Cranial Morphology of Larvae of Agabus disintegratus ...

... analyses revealed significant ontogenetic changes in the cranial architecture of A. disintegratus and differences between crania of ... within the Dytiscidae and include subquadrate and pyriform architect...

NBII National Biological Information Infrastructure

First Page Previous Page 1 2 3 4 5 6 7 8 9 10 Next Page Last Page