(Q40722035)

23 September 2017

0 references

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

1 reference

23 September 2017

Marcella Devoto

10

0 references

Isabella Ceccherini

object named as

Isabella Ceccherini

11

0 references

author name string

Paola Griseri

1

1 reference

23 September 2017

Barbara Pesce

2

1 reference

23 September 2017

Giovanna Patrone

3

1 reference

23 September 2017

Jan Osinga

4

1 reference

23 September 2017

Francesca Puppo

5

1 reference

23 September 2017

Monica Sancandi

6

1 reference

23 September 2017

Robert Hofstra

7

1 reference

23 September 2017

Giovanni Romeo

8

1 reference

23 September 2017

Roberto Ravazzolo

9

1 reference

23 September 2017

language of work or name

English

0 references

publication date

4 September 2002

1 reference

American Journal of Human Genetics

23 September 2017

1 reference

23 September 2017

71

1 reference

23 September 2017

4

1 reference

23 September 2017

969-974

1 reference

Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expression.

23 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

Genetics of Hirschsprung disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

Characterization of RET proto-oncogene 3' splicing variants and polyadenylation sites: a novel C-terminus for RET

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

A genetic study of Hirschsprung disease

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

Grb2 binding to the different isoforms of Ret tyrosine kinase.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

Model-free analysis and permutation tests for allelic associations.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378552

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

2 December 2018

1 reference

12 December 2020

Expression of RET 3' splicing variants during human kidney development

1 reference

12 December 2020

Relative expression of the RET9 and RET51 isoforms in human pheochromocytomas

1 reference

12 December 2020

Nuclear run-on assay using biotin labeling, magnetic bead capture and analysis by fluorescence-based RT-PCR

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/342774

1 reference

23 September 2017

1 reference

23 September 2017

PubMed publication ID

12214285

1 reference