Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum - Wikidata - awgldk - TriplyDB

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

http://www.wikidata.org/entity/Q33608610

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Mechanisms underlying structural variant formation in genomic disorders A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples.Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis

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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

http://www.wikidata.org/entity/Q33608610

description

2008 nî lūn-bûn

@nan

2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

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

name

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

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type

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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

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J.EJMG.2008.02.001

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European Journal of Medical Genetics

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Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum

@en

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April M Hacker

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Beverly S Emanuel

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Denise M Christofolini

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Fernanda T S Bellucco

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Leslie Domenici Kulikowski

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Maria Isabel Melaragno

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Mirlene C S P Cernach

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Sintia Iole Nogueira

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P2860

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q

Prevalence of 22q11 microdeletion.

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

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226-230

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10.1016/J.EJMG.2008.02.001

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3

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51

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