Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort
about
Towards a comprehensive structural variation map of an individual human genomeCytogenomic Aberrations in Congenital Cardiovascular MalformationsMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsMicroarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesJNK1 controls dendritic field size in L2/3 and L5 of the motor cortex, constrains soma size, and influences fine motor coordination.Molecular cytogenetics and cytogenomics of brain diseases.Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.De novo balanced reciprocal translocation t(2;3)(q31;q27) in a fetus conceived using PGD in a t(2;14)(q35;q32.1) balanced reciprocal translocation carrier mother.Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.Advanced age increases chromosome structural abnormalities in human spermatozoa.Clinical genetic testing for patients with autism spectrum disordersCharacterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delayRecurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.De novo deletions and duplications detected by array CGH: a study of parental origin in relation to mechanisms of formation and size of imbalance.Complex human chromosomal and genomic rearrangements.Mapping Breakpoints of Complex Chromosome Rearrangements Involving a Partial Trisomy 15q23.1-q26.2 Revealed by Next Generation Sequencing and Conventional Techniques.Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)Genomic disorders ten years on.MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.Contemplating effects of genomic structural variation.Understanding what determines the frequency and pattern of human germline mutations.Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.Rare variants in NR2F2 cause congenital heart defects in humans.Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.Oligonucleotide microarrays in constitutional genetic diagnosis.Genomic microarrays: a technology overview.Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances.Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities.Nuclear and cytosolic JNK signalling in neurons.Microtubule and microtubule associated protein anomalies in psychiatric disease.Clinical and molecular consequences of disease-associated de novo mutations in SATB2.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.JNK1 controls adult hippocampal neurogenesis and imposes cell-autonomous control of anxiety behaviour from the neurogenic niche.
P2860
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P2860
Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Breakpoint mapping and array C ...... normal and an abnormal cohort
@ast
Breakpoint mapping and array C ...... normal and an abnormal cohort
@en
type
label
Breakpoint mapping and array C ...... normal and an abnormal cohort
@ast
Breakpoint mapping and array C ...... normal and an abnormal cohort
@en
prefLabel
Breakpoint mapping and array C ...... normal and an abnormal cohort
@ast
Breakpoint mapping and array C ...... normal and an abnormal cohort
@en
P2093
P2860
P1476
Breakpoint mapping and array C ...... normal and an abnormal cohort
@en
P2093
Catherine Mercer
Elena Prigmore
John A Crolla
Julia Baptista
N Simon Thomas
Nigel P Carter
Patricia A Jacobs
Susan M Gribble
Viv Maloney
P2860
P304
P356
10.1016/J.AJHG.2008.02.012
P407
P577
2008-03-27T00:00:00Z