(Q42678981)

English

Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles

scientific article published on January 2006

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 November 2017

Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

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Isabella Ceccherini

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I Ceccherini

8

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Giuseppe Martucciello

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author name string

F Lantieri

1

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

P Griseri

2

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Europe PubMed Central

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4 November 2017

F Puppo

3

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Europe PubMed Central

PubMed publication ID

4 November 2017

R Campus

4

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Europe PubMed Central

PubMed publication ID

4 November 2017

G Martucciello

5

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Europe PubMed Central

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4 November 2017

R Ravazzolo

6

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Europe PubMed Central

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4 November 2017

M Devoto

7

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Europe PubMed Central

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4 November 2017

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publication date

1 January 2006

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Europe PubMed Central

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4 November 2017

Annals of Human Genetics

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Europe PubMed Central

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4 November 2017

70

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Europe PubMed Central

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4 November 2017

Pt 1

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Europe PubMed Central

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4 November 2017

12-26

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Europe PubMed Central

PubMed publication ID

4 November 2017

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Using haplotype blocks to map human complex trait loci

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Global survey of haplotype frequencies and linkage disequilibrium at the RET locus

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

High-resolution haplotype structure in the human genome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

RET in human development and oncogenesis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

The structure of haplotype blocks in the human genome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Is there a role for the IHH gene in Hirschsprung's disease?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Reciprocal crossover asymmetry and meiotic drive in a human recombination hot spot.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Linkage disequilibrium and the search for complex disease genes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Human SNP variability and mutation rate are higher in regions of high recombination

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Bayesian analysis of haplotypes for linkage disequilibrium mapping

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Genetics of Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

A comparison of bayesian methods for haplotype reconstruction from population genotype data

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

A New Statistical Method for Haplotype Reconstruction from Population Data

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Genome-wide association studies: theoretical and practical concerns

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1529-8817.2005.00196.X

21 January 2018

Identifiers

10.1111/J.1529-8817.2005.00196.X

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 November 2017

ResearchGate publication ID

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