(Q34135425)

31 July 2017

title

Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype (English)

1 reference

genotype-phenotype correlation

31 July 2017

main subject

1 reference

1 reference

4

Emily Y Chew

1 reference

31 July 2017

2

Elvira Agrón

1 reference

31 July 2017

5

Wai T Wong

1 reference

31 July 2017

1

Pradeep Mettu

1 reference

31 July 2017

Sonia Samtani

3

1 reference

31 July 2017

language of work or name

English

0 references

publication date

7 April 2010

1 reference

Investigative Ophthalmology Visual Science

31 July 2017

published in

1 reference

31 July 2017

volume

51

1 reference

31 July 2017

issue

9

1 reference

31 July 2017

page(s)

4464-4470

1 reference

Radiological evaluation, management, and surveillance of renal masses in Von Hippel-Lindau disease

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

The von Hippel-Lindau tumour suppressor protein: O2 sensing and cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Intravitreal ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Retinal vascular proliferation as an ocular manifestation of von Hippel-Lindau disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Ocular von Hippel-Lindau disease: clinical update and emerging treatments

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Genotype-phenotype correlations in von Hippel-Lindau disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Role of VHL gene mutation in human cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

von Hippel-Lindau tumor suppressor: not only HIF's executioner

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Multiple outputation: inference for complex clustered data by averaging analyses from independent data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

von Hippel-Lindau disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Benefits and complications of photodynamic therapy of papillary capillary hemangiomas

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

von Hippel-Lindau disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Genotype-phenotype correlation in von Hippel-Lindau syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Juxtapapillary capillary hemangiomas. Clinical features and visual acuity outcomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Software and database for the analysis of mutations in the VHL gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Isolation and characterization of the full-length 3' untranslated region of the human von Hippel-Lindau tumor suppressor gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Post-transcriptional regulation of vascular endothelial growth factor mRNA by the product of the VHL tumor suppressor gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Identification of the von Hippel-Lindau disease tumor suppressor gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Mutation and cancer: statistical study of retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Oxygen distribution and consumption in the macaque retina.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2941163

Up-regulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastomas

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20375333

12 December 2020

inferred from PubMed ID database lookup

Reversion of deregulated expression of vascular endothelial growth factor in human renal carcinoma cells by von Hippel-Lindau tumor suppressor protein

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20375333

12 December 2020

inferred from PubMed ID database lookup

VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20375333

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1167/IOVS.10-5223

1 reference

release_yfvpwvimsvgn7az5jzeiwswwki

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/yfvpwvimsvgn7az5jzeiwswwki

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2941163

1 reference

31 July 2017

1 reference