(Q30357251)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Genotype-phenotype correlations in von Hippel-Lindau disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

Kai Ren Ong

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Emma R Woodward

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Pip Killick

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Caron Lim

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Fiona Macdonald

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

publication date

1 February 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

143-149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17024664%20AND%20SRC:MED&resulttype=core&format=json

The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients

20 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

Complete radiological and metabolic response of metastatic renal cell carcinoma to SU5416 (semaxanib) in a patient with probable von Hippel-Lindau syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Epididymal cystadenomas in von Hippel-Lindau disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

The VHL tumour-suppressor gene paradigm

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

The von Hippel-Lindau tumor suppressor protein: new insights into oxygen sensing and cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Identification of the von Hippel-Lindau disease tumor suppressor gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Pancreatic neuroendocrine tumors associated with von Hippel Lindau disease: diagnostic and management recommendations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

The worldwide distribution of the VHL 598C&gt;T mutation indicates a single founding event

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Von Hippel-Lindau Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Endolymphatic sac tumors. A source of morbid hearing loss in von Hippel-Lindau disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Germ-line mutations in nonsyndromic pheochromocytoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Targeting HIF-1 for cancer therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Treatment of renal cell carcinoma in von Hippel-Lindau disease: a multicenter study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Altered gene expression in phenotypically normal renal cells from carriers of tumor suppressor gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Somatic mutations in VHL germline deletion kindred correlate with mild phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20385

7 January 2021