Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus
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Identifying key genes associated with Hirschsprung's disease based on bioinformatics analysis of RNA-sequencing data.Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung's diseaseGenetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.Linkage proof for PTPN22, a rheumatoid arthritis susceptibility gene and a human autoimmunity gene.Differential expression of FOXA1, DUSP6, and HA117 in colon segments of Hirschsprung's disease.Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung diseaseAn official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Disruption of long-distance highly conserved noncoding elements in neurocristopathies.PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.Genetic interactions and modifier genes in Hirschsprung's disease.Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.Epidemiologic survey of patients with congenital central hypoventilation syndrome in Japan.
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Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 27 January 2006
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations of the RET gene in i ...... fier alleles at a single locus
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Mutations of the RET gene in i ...... ier alleles at a single locus.
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type
label
Mutations of the RET gene in i ...... fier alleles at a single locus
@en
Mutations of the RET gene in i ...... ier alleles at a single locus.
@nl
prefLabel
Mutations of the RET gene in i ...... fier alleles at a single locus
@en
Mutations of the RET gene in i ...... ier alleles at a single locus.
@nl
P2093
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Mutations of the RET gene in i ...... fier alleles at a single locus
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J Feingold
L de Pontual
Y Espinosa-Parrilla
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P304
P356
10.1136/JMG.2005.040113
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P577
2006-01-27T00:00:00Z