Phenotypic variability of distal 22q11.2 copy number abnormalities
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Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications.Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb DuplicationCopy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ringDeletions and duplications of the 22q11.2 region in spermatozoa from DiGeorge/velocardiofacial fathers.Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.Distal 22q11.2 Microduplication: Case Report and Review of the Literature.A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum
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Phenotypic variability of distal 22q11.2 copy number abnormalities
description
article
@en
im Juni 2011 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в липні 2011
@uk
ലേഖനം
@ml
name
Phenotypic variability of distal 22q11.2 copy number abnormalities
@en
Phenotypic variability of distal 22q11.2 copy number abnormalities
@nl
type
label
Phenotypic variability of distal 22q11.2 copy number abnormalities
@en
Phenotypic variability of distal 22q11.2 copy number abnormalities
@nl
prefLabel
Phenotypic variability of distal 22q11.2 copy number abnormalities
@en
Phenotypic variability of distal 22q11.2 copy number abnormalities
@nl
P2093
P2860
P50
P356
P1476
Phenotypic variability of distal 22q11.2 copy number abnormalities
@en
P2093
Amanda Collins
Damien L Bruno
George McGillivray
Howard R Slater
John A Crolla
Paul A James
Peter G Farlie
Richard J Leventer
Robin Forbes
P2860
P304
P356
10.1002/AJMG.A.34051
P407
P577
2011-06-10T00:00:00Z