Hirschsprung disease, associated syndromes, and genetics: a review. - Wikidata - awgldk - TriplyDB

Hirschsprung disease, associated syndromes, and genetics: a review.

Hirschsprung disease, associated syndromes, and genetics: a review.

http://www.wikidata.org/entity/Q34428513

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Mowat-Wilson syndrome Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways Mowat-Wilson syndrome Transplanting the enteric nervous system: a step closer to treatment for aganglionosis Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)The bowel and beyond: the enteric nervous system in neurological disorders Is there a role for the IHH gene in Hirschsprung's disease?Pediatric disorders with autonomic dysfunction: what role for PHOX2B?Fluorescence Visualization of the Enteric Nervous Network in a Chemically Induced Aganglionosis Model Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome Diminished Ret expression compromises neuronal survival in the colon and causes intestinal aganglionosis in mice.Novel mechanisms of early upper and lower urinary tract patterning regulated by RetY1015 docking tyrosine in mice In vivo transplantation of neurosphere-like bodies derived from the human postnatal and adult enteric nervous system: a pilot study.Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice.Developmental biology of the enteric nervous system: pathogenesis of Hirschsprung's disease and other congenital dysmotilities.Hirschsprung's disease in children: a five year experience at a university teaching hospital in northwestern Tanzania.Fine mapping of the 9q31 Hirschsprung's disease locus.Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.Hirschsprung's Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution.Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.Identifying candidate Hirschsprung disease-associated RET variants Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.A prospective observational study of associated anomalies in Hirschsprung's disease.Diagnosis of Hirschsprung's disease with particular emphasis on histopathology. A systematic review of current literature.Functional outcome after Swenson's operation for Hirshsprung's disease.Advances in ontogeny of the enteric nervous system.Pigment pattern formation in zebrafish: a model for developmental genetics and the evolution of form.RET and PHOX2B genetic polymorphisms and Hirschsprung's disease susceptibility: a meta-analysis Comparative study of Hsp27, GSK3β, Wnt1 and PRDX3 in Hirschsprung's disease.Down-regulation of miR-206 is associated with Hirschsprung disease and suppresses cell migration and proliferation in cell models.Multiple endocrine neoplasias type 2B and RET proto-oncogene.Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.Alternative splicing results in RET isoforms with distinct trafficking properties.Detection and preliminary screening of the human gene expression profile for Hirschsprung's disease.Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4 The developmental etiology and pathogenesis of Hirschsprung disease.Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus Clinical outcome and bowel function after surgical treatment in Hirschsprung's disease.lessen encodes a zebrafish trap100 required for enteric nervous system development.

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P2860

Hirschsprung disease, associated syndromes, and genetics: a review.

http://www.wikidata.org/entity/Q34428513

description

2001 nî lūn-bûn

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2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2001年の論文

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2001年論文

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2001年論文

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Hirschsprung disease, associated syndromes, and genetics: a review.

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Hirschsprung disease, associated syndromes, and genetics: a review.

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Hirschsprung disease, associated syndromes, and genetics: a review.

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Hirschsprung disease, associated syndromes, and genetics: a review.

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Hirschsprung disease, associated syndromes, and genetics: a review.

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Hirschsprung disease, associated syndromes, and genetics: a review.

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Hirschsprung disease, associated syndromes, and genetics: a review.

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Hirschsprung disease, associated syndromes, and genetics: a review.

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Amiel J

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Lyonnet S

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P2860

Artemin, a novel member of the GDNF ligand family, supports peripheral and central neurons and signals through the GFRalpha3-RET receptor complex

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

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

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

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

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

Persephin, a novel neurotrophic factor related to GDNF and neurturin

Defects in enteric innervation and kidney development in mice lacking GDNF

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

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