Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.

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http://www.wikidata.org/entity/Q41918174
1p36 deletion syndrome: an updateAn allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions.De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.p600/UBR4 in the central nervous system.Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1Clinical detection of deletion structural variants in whole-genome sequences.Possible involvement of a cell adhesion molecule, Migfilin, in brain development and pathogenesis of autism spectrum disorders.Genotype-phenotype correlations in individuals with pathogenic RERE variants.Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delayIdentification of a New Candidate Locus for Ebstein Anomaly in 1p36.2RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects
P2860

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.

Item
http://www.wikidata.org/entity/Q41918174
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
@en
type
label
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
@en
prefLabel
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome.
@en
P2093
P304
P31
P356
10.1111/J.1399-0004.2007.00876.X
P433
P478
P50
P577
P5875
P698