The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
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Further delineation of complex chromosomal rearrangements in fertile male using multicolor bandingArray-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberrationCharacterization of complex chromosomal rearrangements by targeted capture and next-generation sequencingMechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesClinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case reportArray painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays.Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorderGuidelines for molecular karyotyping in constitutional genetic diagnosis.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.KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.A novel chromosomal translocation and heteromorphism in a female with recurrent pregnancy loss--a case studyThe new cytogenetics: blurring the boundaries with molecular biology.Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism.Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression.Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritisChromosomal catastrophe is a frequent event in clinically insignificant prostate cancer.Multicolor chromosome bar codes.Array painting reveals a high frequency of balanced translocations in breast cancer cell lines that break in cancer-relevant genes.Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohortArray-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs.Ultra-high resolution array painting facilitates breakpoint sequencing.Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.Genomic disorders ten years on.Contemplating effects of genomic structural variation.Oligonucleotide microarrays in constitutional genetic diagnosis.Characterising chromosome rearrangements: recent technical advances in molecular cytogeneticsGenetic basis of single-suture synostoses: genes, chromosomes and clinical implications.Balanced complex chromosome rearrangement in male infertility: case report and literature review.Directional genomic hybridization for chromosomal inversion discovery and detection.Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles.De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation.
P2860
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P1343
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P2860
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
The complex nature of constitu ...... nting with abnormal phenotypes
@ast
The complex nature of constitu ...... nting with abnormal phenotypes
@en
type
label
The complex nature of constitu ...... nting with abnormal phenotypes
@ast
The complex nature of constitu ...... nting with abnormal phenotypes
@en
prefLabel
The complex nature of constitu ...... nting with abnormal phenotypes
@ast
The complex nature of constitu ...... nting with abnormal phenotypes
@en
P2093
P2860
P356
P1476
The complex nature of constitu ...... nting with abnormal phenotypes
@en
P2093
Bee Ling Ng
D C Burford
D Kalaitzopoulos
E J Douglas
E Prigmore
I K Temple
J A Crolla
K M Porter
N P Carter
P2860
P356
10.1136/JMG.2004.024141
P407
P577
2005-01-01T00:00:00Z