Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. - Wikidata - awgldk - TriplyDB

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

http://www.wikidata.org/entity/Q47618208

about

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease Fine mapping of the 9q31 Hirschsprung's disease locus.Identifying candidate Hirschsprung disease-associated RET variants RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis Advances in molecular genetics of Hirschsprung's disease.Enteric nervous system development: A crest cell's journey from neural tube to colon.Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locus.Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles.Genetic interactions and modifier genes in Hirschsprung's disease.A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease Mapping of a Hirschsprung's disease locus in 3p21

P2860

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P2860

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

http://www.wikidata.org/entity/Q47618208

description

2004 nî lūn-bûn

@nan

2004年の論文

@ja

2004年学术文章

@wuu

2004年学术文章

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2004年学术文章

@zh-hans

2004年学术文章

@zh-my

2004年学术文章

@zh-sg

2004年學術文章

@yue

2004年學術文章

@zh

2004年學術文章

@zh-hant

name

Localizing a putative mutation ...... he promoter region and exon 2.

@en

Localizing a putative mutation ...... he promoter region and exon 2.

@nl

type

label

Localizing a putative mutation ...... he promoter region and exon 2.

@en

Localizing a putative mutation ...... he promoter region and exon 2.

@nl

prefLabel

Localizing a putative mutation ...... he promoter region and exon 2.

@en

Localizing a putative mutation ...... he promoter region and exon 2.

@nl

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SJ.EJHG.5201199

P1433

European Journal of Human Genetics

P1476

Localizing a putative mutation ...... he promoter region and exon 2.

@en

P2093

Alice Brooks

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

Bas Twigt

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

Charles H C M Buys

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Grzegorz M Burzynski

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Ilja M Nolte

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Ivan Plaza Menacho

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Jan Osinga

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Joke Verheij

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Saskia Maas

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P2860

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

Mutations of the RET proto-oncogene in Hirschsprung's disease

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

P2888

sj.ejhg.5201199

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604-612

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scholarly article

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10.1038/SJ.EJHG.5201199

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8

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Isabella Ceccherini

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8568430

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