(Q81267790)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

review article

1 reference

title

Genetic basis for kidney cancer: opportunity for disease-specific approaches to therapy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

Elizabeth Cartwright Pfaffenroth

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

W Marston Linehan

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

publication date

1 June 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

Expert Opinion on Biological Therapy

7 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

779-790

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

7 January 2020

cites work

1 reference

12 December 2020

Clinical features and natural history of von Hippel-Lindau disease

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12 December 2020

Von Hippel-Lindau disease: a genetic study

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12 December 2020

Identification of the von Hippel-Lindau disease tumor suppressor gene

1 reference

12 December 2020

Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome

1 reference

12 December 2020

Hereditary papillary renal cell carcinoma

1 reference

12 December 2020

Molecular cytogenetics of renal cell tumors

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12 December 2020

Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas.

1 reference

12 December 2020

Mutations of the VHL tumour suppressor gene in renal carcinoma

1 reference

12 December 2020

Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma

1 reference

12 December 2020

Characterization of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications

1 reference

12 December 2020

Parenchymal sparing surgery in patients with hereditary renal cell carcinoma

1 reference

12 December 2020

A population-based familial aggregation analysis indicates genetic contribution in a majority of renal cell carcinomas

1 reference

12 December 2020

Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families

1 reference

12 December 2020

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

1 reference

12 December 2020

VHL tumor suppressor gene alterations associated with good prognosis in sporadic clear-cell renal carcinoma

1 reference

12 December 2020

Renal Tumors in the Birt-Hogg-Dubé Syndrome

1 reference

12 December 2020

Studying cancer families to identify kidney cancer genes

1 reference

12 December 2020

Hypoxia promotes invasive growth by transcriptional activation of the met protooncogene

1 reference

12 December 2020

Activating mutations for the met tyrosine kinase receptor in human cancer

1 reference

12 December 2020

Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2

1 reference

12 December 2020

Two North American families with hereditary papillary renal carcinoma and identical novel mutations in the MET proto-oncogene

1 reference

12 December 2020

Genotype-phenotype correlations in von Hippel-Lindau disease

1 reference

12 December 2020

Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel mutations of the MET proto-oncogene in papillary renal carcinomas.

1 reference

12 December 2020

Hereditary and sporadic papillary renal carcinomas with c-met mutations share a distinct morphological phenotype

1 reference

12 December 2020

Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia.

1 reference

12 December 2020

Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome

1 reference

12 December 2020

Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome

1 reference

12 December 2020

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome

1 reference

12 December 2020

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Inhibition of transcription elongation by the VHL tumor suppressor protein

1 reference

12 December 2020

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

1 reference

12 December 2020

Enucleation procedures in patients with multiple hereditary renal tumors

1 reference

12 December 2020

Prevalence of microscopic lesions in grossly normal renal parenchyma from patients with von Hippel-Lindau disease, sporadic renal cell carcinoma and no renal disease: clinical implications

1 reference

12 December 2020

Small (< or = 3-cm) renal masses: detection with CT versus US and pathologic correlation

1 reference

12 December 2020

Von Hippel-Lindau disease and sporadic renal cell carcinoma

1 reference

12 December 2020

Re: Hereditary papillary renal cell carcinoma: clinical studies in 10 families

1 reference

12 December 2020

The von Hippel-Lindau tumor-suppressor gene product forms a stable complex with human CUL-2, a member of the Cdc53 family of proteins

1 reference

12 December 2020

1 reference

12 December 2020

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

1 reference

12 December 2020

Imaging features of hereditary papillary renal cancers

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12 December 2020

VHL: a very hip ligase

1 reference

12 December 2020

Prevalence of microscopic tumors in normal appearing renal parenchyma of patients with hereditary papillary renal cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

Intraoperative ultrasound during renal parenchymal sparing surgery for hereditary renal cancers: a 10-year experience

1 reference

12 December 2020

Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience

1 reference

12 December 2020

Inherited susceptibility to uterine leiomyomas and renal cell cancer

1 reference

12 December 2020

Genotype-phenotype correlation in von Hippel-Lindau syndrome

1 reference

12 December 2020

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

1 reference

12 December 2020

Birt-Hogg-Dubé syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2.

1 reference

12 December 2020

Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2.

1 reference

12 December 2020

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology

1 reference

12 December 2020

Von Hippel-Lindau disease: gene to bedside

1 reference

12 December 2020

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

1 reference

12 December 2020

Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome.

1 reference

12 December 2020

Two HIFs may be better than one.

1 reference

12 December 2020

Inhibition of HIF is necessary for tumor suppression by the von Hippel-Lindau protein

1 reference

12 December 2020

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer

1 reference

12 December 2020

HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability

1 reference

12 December 2020

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer

1 reference

12 December 2020

Cancer statistics, 2006

1 reference

12 December 2020

Increased risk of cancer in patients with fumarate hydratase germline mutation

1 reference

12 December 2020

Targeting the c-Met signaling pathway in cancer

1 reference

12 December 2020

Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

1 reference

12 December 2020

Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome

1 reference

12 December 2020

The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome

1 reference

12 December 2020

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

1 reference

12 December 2020

Out of air is not out of action

1 reference

12 December 2020

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America

1 reference

12 December 2020

von Hippel-Lindau disease

1 reference

12 December 2020

A randomized trial of bevacizumab, an anti-vascular endothelial growth factor antibody, for metastatic renal cancer

1 reference

12 December 2020

Randomized study of high-dose and low-dose interleukin-2 in patients with metastatic renal cancer

1 reference

12 December 2020

The genetic basis of cancer of the kidney

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma

1 reference

12 December 2020

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

1 reference

12 December 2020

Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene

1 reference

12 December 2020

Focus on kidney cancer

1 reference

12 December 2020

Mutation and cancer: statistical study of retinoblastoma

1 reference

12 December 2020

Cutaneous leiomyomata with uterine leiomyomata

1 reference

12 December 2020

Hereditary Multiple Fibrofolliculomas With Trichodiscomas and Acrochordons

1 reference

12 December 2020

Identifiers

DOI

10.1517/14712598.8.6.779

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18476789%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PubMed publication ID

18476789

1 reference