Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? (Q51959603)

19 April 2018

title

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? (English)

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4

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author name string

Melissa A Parisi

1

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Raj P Kapur

2

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Ian Neilson

3

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Lynda W Holloway

5

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Ron C Michaelis

6

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Kathleen A Leppig

7

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publication date

1 February 2002

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American Journal of Medical Genetics Part A

published in

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19 April 2018

volume

108

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issue

1

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page(s)

51-56

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19 April 2018

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Impaired expression of neural cell adhesion molecule L1 in the extrinsic nerve fibers in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Hirschsprung disease and other enteric dysganglionoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Neural cell adhesion molecule L1: relating disease to function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

X linked hydrocephalus and MASA syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Genetics of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Hirschsprung's disease genes and the development of the enteric nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

CRASH syndrome: mutations in L1CAM correlate with severity of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

21 January 2018

X-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Frequency of RET mutations in long- and short-segment Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10185

Evidence for somatic and germline mosaicism in CRASH syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10185

21 January 2018

Identifiers

DOI

10.1002/AJMG.10185

1 reference

19 April 2018

release_tnlssbpycracrojzzlkk4sk45q

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/tnlssbpycracrojzzlkk4sk45q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 April 2018