Segmental duplications mediate novel, clinically relevant chromosome rearrangements. - Wikidata - awgldk - TriplyDB

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

http://www.wikidata.org/entity/Q37272341

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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families Are human endogenous retroviruses pathogenic? An approach to testing the hypothesis Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases Genome-wide analysis of copy number variation in type 1 diabetes A copy number variation morbidity map of developmental delay Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.Refining analyses of copy number variation identifies specific genes associated with developmental delay Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Tandem repeats and G-rich sequences are enriched at human CNV breakpoints Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Adult neuropsychiatric expression and familial segregation of 2q13 duplications The genetics of microdeletion and microduplication syndromes: an update.A recurrent translocation is mediated by homologous recombination between HERV-H elements.High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research.A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.Making a virtue of necessity: the pleiotropic role of human endogenous retroviruses in cancer.A comparison of genomic copy number calls by Partek Genomics Suite, Genotyping Console and Birdsuite algorithms to quantitative PCR De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency.Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

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P2860

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

http://www.wikidata.org/entity/Q37272341

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on 14 May 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

@en

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

@nl

type

label

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

@en

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

@nl

prefLabel

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

@en

Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

@nl

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Human Molecular Genetics

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Segmental duplications mediate novel, clinically relevant chromosome rearrangements.

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Brian Bunke

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David H Ledbetter

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Erin B Kaminsky

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Jennifer G Mulle

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Julia Keene

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M Katharine Rudd

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Margaret P Adam

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P2860

Fine-scale structural variation of the human genome

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Mutations in the human TBX4 gene cause small patella syndrome.

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

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scholarly article

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10.1093/HMG/DDP233

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16

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18

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Christa Lese Martin

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2009-05-14T00:00:00Z

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24428556

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19443486

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