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

Journal of medical genetics, 2006-01, Vol.43 (1), p.18-27

2006

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The Heidelberg classification of renal cell tumours

The Journal of pathology, 1997-10, Vol.183 (2), p.131-133

1997

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Oncogenic Mutants of RON and MET Receptor Tyrosine Kinases Cause Activation of the β-Catenin Pathway

Molecular and Cellular Biology, 2001-09, Vol.21 (17), p.5857-5868

2001

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Silencing of the VHL Tumor-Suppressor Gene by DNA Methylation in Renal Carcinoma

Proceedings of the National Academy of Sciences - PNAS, 1994-10, Vol.91 (21), p.9700-9704

1994

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The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance

Oncogene, 2006-09, Vol.25 (44), p.5933-5941

2006

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Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer

Journal of medical genetics, 2006-09, Vol.43 (9), p.755-762

2006

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von Hippel-Lindau disease: genetic, clinical, and imaging features

Radiology, 1995-03, Vol.194 (3), p.629

1995

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Mutations of the VHL tumour suppressor gene in renal carcinoma

Nature genetics, 1994-05, Vol.7 (1), p.85-90

1994

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Dysregulation of Met receptor tyrosine kinase activity in invasive tumors

The Journal of clinical investigation, 2002-04, Vol.109 (7), p.863-867

2002

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Third International Meeting on von Hippel-Lindau disease

Cancer research, 1999-05, Vol.59 (9), p.2251-2253

1999

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Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents

American journal of human genetics, 2000-01, Vol.66 (1), p.84-91

2000

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The Genetic Basis of Cancer of the Kidney

The Journal of urology, 2003-12, Vol.170 (6), p.2163-2172

2003

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

Cancer cell, 2005-08, Vol.8 (2), p.143-153

2005

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Renal cysts, renal cancer and von Hippel-Lindau disease

Kidney international, 1997-01, Vol.51 (1), p.16-26

1997

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Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma

Nature (London), 1987-06, Vol.327 (6124), p.721-724

1987

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

Human molecular genetics, 1995-11, Vol.4 (11), p.2139-2143

1995

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Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dube Syndrome

American journal of respiratory and critical care medicine, 2007-05, Vol.175 (10), p.1044-1053

2007

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Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America

American journal of human genetics, 2003-07, Vol.73 (1), p.95-106

2003

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Focus on kidney cancer

Cancer cell, 2004-09, Vol.6 (3), p.223-228

2004

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Hereditary Papillary Renal Cell Carcinoma

The Journal of urology, 1994-03, Vol.151 (3), p.561-566

1994

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Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

American journal of human genetics, 2005-06, Vol.76 (6), p.1023-1033

2005

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Inherited Carcinomas of the Kidney

Advances in Cancer Research, 1998, Vol.75, p.163-203

1998

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Renal tumors in the Birt-Hogg-Dubé syndrome

The American journal of surgical pathology, 2002-12, Vol.26 (12), p.1542-1552

2002

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Hereditary papillary renal cell carcinoma: clinical studies in 10 families

The Journal of urology, 1995-03, Vol.153 (3 Pt 2), p.907-912

1995

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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

Cancer cell, 2002-08, Vol.2 (2), p.157-164

2002

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

The Heidelberg classification of renal cell tumours

Oncogenic Mutants of RON and MET Receptor Tyrosine Kinases Cause Activation of the β-Catenin Pathway

Silencing of the VHL Tumor-Suppressor Gene by DNA Methylation in Renal Carcinoma

The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance

Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer

von Hippel-Lindau disease: genetic, clinical, and imaging features

Mutations of the VHL tumour suppressor gene in renal carcinoma

Dysregulation of Met receptor tyrosine kinase activity in invasive tumors

Third International Meeting on von Hippel-Lindau disease

Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents

The Genetic Basis of Cancer of the Kidney

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

Renal cysts, renal cancer and von Hippel-Lindau disease

Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma

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

Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dube Syndrome

Mutations in the Fumarate Hydratase Gene Cause Hereditary Leiomyomatosis and Renal Cell Cancer in Families in North America

Focus on kidney cancer

Hereditary Papillary Renal Cell Carcinoma

Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome

Inherited Carcinomas of the Kidney

Renal tumors in the Birt-Hogg-Dubé syndrome

Hereditary papillary renal cell carcinoma: clinical studies in 10 families

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

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