(Q33682913)

28 July 2017

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas (English)

1 reference

von Hippel-Lindau disease

28 July 2017

1 reference

Eng C

1

1 reference

28 July 2017

Crossey PA

2

1 reference

28 July 2017

Mulligan LM

3

1 reference

28 July 2017

Healey CS

4

1 reference

28 July 2017

Houghton C

5

1 reference

28 July 2017

Prowse A

6

1 reference

28 July 2017

Chew SL

7

1 reference

28 July 2017

Dahia PL

8

1 reference

28 July 2017

O'Riordan JL

9

1 reference

28 July 2017

Toledo SP

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1995

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

32

1 reference

28 July 2017

12

1 reference

28 July 2017

934-937

1 reference

Identification of the von Hippel-Lindau disease tumor suppressor gene

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

The role of gene mutations in the genesis of familial cancers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Mutations of the VHL tumour suppressor gene in renal carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

A developmental context for multiple genetic alterations in Wilms' tumor.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Loss of neurofibromatosis type I (NF1) gene expression in pheochromocytomas from patients without NF1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Von Recklinghausen neurofibromatosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

von Hippel-Lindau disease affecting 43 members of a single kindred

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Clinical features and natural history of von Hippel-Lindau disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Multiple endocrine neoplasia: how many syndromes?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Familial pheochromocytoma, hypercalcemia, and von Hippel-Lindau disease. A ten year study of a large family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Deletion of genes on chromosome 1 in endocrine neoplasia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051771

Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2

30 October 2018

1 reference

12 December 2020

Molecular genetic investigations of the mechanism of tumourigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours

1 reference

12 December 2020

Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s

1 reference

12 December 2020

A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC

1 reference

12 December 2020

Mutations in the RET protooncogene in sporadic pheochromocytomas

1 reference

12 December 2020

Mutation of theRET protooncogene in sporadic medullary thyroid carcinoma

1 reference

12 December 2020

RET mutations in exons 13 and 14 of FMTC patients

1 reference

12 December 2020

Multiple endocrine neoplasia syndrome type 2: The value of screening and central registration

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.12.934

1 reference

28 July 2017

1 reference

28 July 2017

1 reference