List of works by Stéphane Richard

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

scientific article published in January 2010

A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome

scientific article published on 01 November 2006

Biphasic Squamoid Alveolar Renal Cell Carcinoma: 2 Cases in a Family Supporting a Continuous Spectrum With Papillary Type I Renal Cell Carcinoma

scientific article published on 01 July 2017

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

scientific article published on 13 April 2015

Combined VHLH and PTEN mutation causes genital tract cystadenoma and squamous metaplasia.

scientific article published on 12 May 2008

Conservative management of endolymphatic sac tumors in von Hippel-Lindau disease: case report.

scientific article published on 20 November 2010

Difficult Diagnosis of Atypical Cystic Pancreatic Lesions in von Hippel-Lindau Disease

scientific article published on 01 January 2010

Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.

scientific article

Endolymphatic sac tumors in von Hippel-Lindau disease: report of three cases.

scientific article published in June 2010

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN

scientific article published on 01 September 2008

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

scientific article

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

scientific article

High incidence of renal tumours in vitamins A and E synthesis workers: A new cause of occupational cancer?

scientific article published on 01 March 2004

Local recurrence after nephron-sparing surgery in von Hippel-Lindau disease

scientific article published on 01 September 2007

Management of endolymphatic sac tumors: sporadic cases and von Hippel-Lindau disease

scientific article published on June 2014

Microsporidia infection in patients with the human immunodeficiency virus and unexplained cholangitis.

scientific article published in January 1993

Molecular profiling of pancreatic neuroendocrine tumors in sporadic and Von Hippel-Lindau patients.

scientific article published on 29 March 2012

Natural history of supratentorial hemangioblastomas in von Hippel-Lindau disease.

scientific article published in September 2010

Nephron sparing surgery for renal cell carcinoma and von Hippel-Lindau's disease: a single center experience.

scientific article published in November 2003

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.

scientific article published in June 2010

Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease.

scientific article

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

scientific article published on April 1999

Novel somatic mutations of the VHL gene in an erythropoietin-producing renal carcinoma associated with secondary polycythemia and elevated circulating endothelial progenitor cells.

scientific article published in February 2008

Progress in nephron sparing therapy for renal cell carcinoma and von Hippel-Lindau disease.

scientific article published on 15 April 2011

Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

scientific article published on 16 March 2017

Spectrum of abdominal imaging findings in von Hippel-Lindau disease

scientific article published on 01 October 2003

Sunitinib for the treatment of benign and malignant neoplasms from von Hippel-Lindau disease: A single-arm, prospective phase II clinical study from the PREDIR group.

scientific article

Surgical resection of medulla oblongata hemangioblastomas: outcome and complications.

scientific article

The role of PHD2 mutations in the pathogenesis of erythrocytosis

scientific article

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

scientific article published on 25 April 2016

Von Hippel-Lindau disease.

scientific article published in April 2004

[Cancer genetic screening for patient with multiple renal tumors: What is the current practice for what results?]

scientific article published on 01 June 2016

[Familial cutaneous and uterine leiomyomatosis]

scientific article published on 22 July 2008

[Intramedullary hemangioblastomas]

scientific article published on 27 February 2016

[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].

scientific article

[Renal failure and cystic kidney diseases]

scientific article published on 21 April 2011

[Renal oncocytosis: case report]

scientific article published on 20 November 2008

iPSC-Derived Embryoid Bodies as Models of c-Met-Mutated Hereditary Papillary Renal Cell Carcinoma

scientific article published on 30 September 2019

von Hippel-Lindau disease: a clinical and scientific review

scientific article

von Hippel-Lindau disease: recent advances and therapeutic perspectives.

scientific article

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