(Q42662265)

4 November 2017

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations (English)

1 reference

von Hippel-Lindau disease

4 November 2017

1 reference

E R Maher

1

1 reference

4 November 2017

A R Webster

2

1 reference

4 November 2017

F M Richards

3

1 reference

4 November 2017

J S Green

4

1 reference

4 November 2017

P A Crossey

5

1 reference

4 November 2017

S J Payne

6

1 reference

4 November 2017

A T Moore

7

1 reference

4 November 2017

language of work or name

English

0 references

publication date

1 April 1996

1 reference

Journal of Medical Genetics

4 November 2017

1 reference

4 November 2017

33

1 reference

4 November 2017

328-332

1 reference

4 November 2017

4

1 reference

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Elongin (SIII): a multisubunit regulator of elongation by RNA polymerase II

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Inhibition of transcription elongation by the VHL tumor suppressor protein

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Tumour suppression by the human von Hippel-Lindau gene product

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

The CpG dinucleotide and human genetic disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Clinical features and natural history of von Hippel-Lindau disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050584

A mutant p53 transgene accelerates tumour development in heterozygous but not nullizygous p53-deficient mice

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8730290

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8730290

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8730290

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.4.328

1 reference

4 November 2017

1 reference

4 November 2017

1 reference