Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease (Q28295097)

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20 October 2019

title

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

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20 October 2019

3

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20 October 2019

Jeanne Amiel

6

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20 October 2019

Sabine Sarnacki

7

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20 October 2019

Stanislas Lyonnet

12

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20 October 2019

author name string

R Salomon

1

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20 October 2019

T Attié

2

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20 October 2019

C Bidaud

4

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20 October 2019

C Eng

5

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20 October 2019

O Goulet

8

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20 October 2019

C Ricour

9

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20 October 2019

C Nihoul-Fékété

10

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20 October 2019

A Munnich

11

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20 October 2019

language of work or name

English

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publication date

1 November 1996

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20 October 2019

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20 October 2019

volume

14

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20 October 2019

issue

3

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20 October 2019

page(s)

345-347

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

20 October 2019

cites work

1 reference

Renal and neuronal abnormalities in mice lacking GDNF

21 April 2017

1 reference

Defects in enteric innervation and kidney development in mice lacking GDNF

21 April 2017

1 reference

Renal agenesis and the absence of enteric neurons in mice lacking GDNF

21 April 2017

1 reference

The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1

21 April 2017

1 reference

Developing motor neurons rescued from programmed and axotomy-induced cell death by GDNF

21 April 2017

1 reference

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

21 April 2017

1 reference

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

GDNF signalling through the Ret receptor tyrosine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

Functional receptor for GDNF encoded by the c-ret proto-oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

Role of transactivation of the EGF receptor in signalling by G-protein-coupled receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

How neutral are synonymous codon mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

Hirschsprung's disease. Evaluation of mortality and long-term function in 260 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

MONGOLISM ASSOCIATED WITH HIRSCHSPRUNG'S DISEASE

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

Wither polygenic inheritance: mapping Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-345

7 January 2021

Identifiers

DOI

10.1038/NG1196-345

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8896569%20AND%20SRC:MED&resulttype=core&format=json

release_t7zkexeaqjdvdkpzzc3yt52kxm

20 October 2019

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/t7zkexeaqjdvdkpzzc3yt52kxm

24 November 2022

mapped directly with Wikidata item

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