(Q40738218)

23 September 2017

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

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23 September 2017

13

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23 September 2017

7

Tania Attié-Bitach

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Julie Steffann

object named as

Julie Steffann

11

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Robert Hofstra

object named as

Robert Hofstra

9

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Arnold Munnich

12

object named as

Arnold Munnich

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23 September 2017

1

Stacey B Gabriel

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23 September 2017

6

Myriam Fornage

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23 September 2017

Rémi Salomon

2

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23 September 2017

Anna Pelet

3

1 reference

23 September 2017

Misha Angrist

4

1 reference

23 September 2017

Jeanne Amiel

5

1 reference

23 September 2017

Jane M Olson

8

1 reference

23 September 2017

Charles Buys

10

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23 September 2017

Aravinda Chakravarti

14

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23 September 2017

language of work or name

English

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publication date

15 April 2002

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23 September 2017

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23 September 2017

31

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23 September 2017

89-93

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23 September 2017

1

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https://scigraph.springernature.com/pub.10.1038/ng868

23 September 2017

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cites work

Population genetics--making sense out of sequence

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7 January 2021

Genetic dissection of complex traits

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7 January 2021

The new genomics: global views of biology

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

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7 January 2021

Allele-sharing models: LOD scores and accurate linkage tests

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7 January 2021

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

1 reference

7 January 2021

Likelihood-based models for genetic linkage analysis using affected sib pairs

1 reference

7 January 2021

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

1 reference

7 January 2021

Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function

1 reference

7 January 2021

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

7 January 2021

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

1 reference

7 January 2021

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

1 reference

7 January 2021

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

7 January 2021

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]

1 reference

7 January 2021

Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility

1 reference

7 January 2021

Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease

1 reference

7 January 2021

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

1 reference

7 January 2021

Null mutation of Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain

1 reference

7 January 2021

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

1 reference

7 January 2021

Amino acid substitution matrices from protein blocks

1 reference

7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/NG868

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