Genotype-phenotype correlations in von Hippel-Lindau disease. (Q30357251)

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20 December 2019

title

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

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20 December 2019

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6

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20 December 2019

author name string

Kai Ren Ong

1

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20 December 2019

Emma R Woodward

2

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20 December 2019

Pip Killick

3

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20 December 2019

Caron Lim

4

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20 December 2019

Fiona Macdonald

5

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20 December 2019

publication date

1 February 2007

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20 December 2019

language of work or name

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20 December 2019

volume

28

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20 December 2019

issue

2

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20 December 2019

page(s)

143-149

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

20 December 2019

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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

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

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

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

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Epididymal cystadenomas in von Hippel-Lindau disease

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7 January 2021

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

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7 January 2021

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

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

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A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas

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

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7 January 2021

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

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7 January 2021

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

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

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The VHL tumour-suppressor gene paradigm

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7 January 2021

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

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7 January 2021

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

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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

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7 January 2021

Identification of the von Hippel-Lindau disease tumor suppressor gene

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Von Hippel-Lindau Disease

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Germ-line mutations in nonsyndromic pheochromocytoma

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7 January 2021

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

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7 January 2021

Targeting HIF-1 for cancer therapy

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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