Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease (Q56234348)

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21 December 2019

title

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease (English)

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21 December 2019

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1

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21 December 2019

Anastella Pelet

2

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21 December 2019

Stanislas Lyonnet

7

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21 December 2019

author name string

Zvi Steiner

3

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21 December 2019

Yoram Rozenbach

5

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21 December 2019

Mordechai Shohat

6

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21 December 2019

Arnold Munnich

4

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21 December 2019

publication date

8 November 2006

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European Journal of Human Genetics

21 December 2019

published in

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21 December 2019

volume

15

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21 December 2019

issue

2

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21 December 2019

page(s)

242-245

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201733

21 December 2019

exact match

0 references

cites work

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

1 reference

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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

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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

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Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

21 January 2018

1 reference

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A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

21 January 2018

1 reference

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A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

1 reference

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Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

21 January 2018

1 reference

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A homozygous missense mutation in the tyrosine E kinase domain of the RET proto-oncogene in an infant with total intestinal aganglionosis

21 January 2018

1 reference

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Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site

21 January 2018

1 reference

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Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

Novel intronic polymorphisms in theRET proto-oncogene and their association with Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733

inferred from DOI database lookup

7 January 2021

based on heuristic

Segregation at three loci explains familial and population risk in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201733