Clinical utility gene card for: Cornelia de Lange syndrome

Item

http://www.wikidata.org/entity/Q36116657

description

2014 nî lūn-bûn

@nan

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

2014年论文

@zh

2014年论文

@zh-cn

name

Clinical utility gene card for: Cornelia de Lange syndrome

@ast

Clinical utility gene card for: Cornelia de Lange syndrome

@en

type

Item

label

Clinical utility gene card for: Cornelia de Lange syndrome

@ast

Clinical utility gene card for: Cornelia de Lange syndrome

@en

prefLabel

Clinical utility gene card for: Cornelia de Lange syndrome

@ast

Clinical utility gene card for: Cornelia de Lange syndrome

@en

P1476

Clinical utility gene card for: Cornelia de Lange syndrome

@en

P2093

Angelo Selicorni

http://www.w3.org/2001/XMLSchema#string

Beatriz Puisac

http://www.w3.org/2001/XMLSchema#string

Carolina Baquero-Montoya

http://www.w3.org/2001/XMLSchema#string

Feliciano J Ramos

http://www.w3.org/2001/XMLSchema#string

Frank J Kaiser

http://www.w3.org/2001/XMLSchema#string

Ian D Krantz

http://www.w3.org/2001/XMLSchema#string

Inés Bueno

http://www.w3.org/2001/XMLSchema#string

Ma Concepción Gil-Rodríguez

http://www.w3.org/2001/XMLSchema#string

Matthew A Deardorff

http://www.w3.org/2001/XMLSchema#string

Raoul C Hennekam

http://www.w3.org/2001/XMLSchema#string

P2860

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

RAD21 mutations cause a human cohesinopathy

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

P2888

ejhg.2014.270

P31

scholarly article

P356

10.1038/EJHG.2014.270

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

David R. FitzPatrick

Antonio Musio

Juan Pié

P577

2014-12-24T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

270054756

http://www.w3.org/2001/XMLSchema#string

P6179

1051590369

http://www.w3.org/2001/XMLSchema#string

P698

25537356

http://www.w3.org/2001/XMLSchema#string

P932

4592075

http://www.w3.org/2001/XMLSchema#string