S. Gad

发表

Crypt-restricted proliferation and commitment to the Paneth cell lineage following Apc loss in the mouse intestine

Pierre Laurent-Puig, P. Laurent-Puig, A. Kahn, 2005, Development.

Familial Non-VHL Clear Cell (Conventional) Renal Cell Carcinoma: Clinical Features, Segregation Analysis, and Mutation Analysis of FLCN

S. Richard, C. Ricketts, S. Hodgson, 2008, Clinical Cancer Research.

Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

S. Richard, W. Kaelin, William Y. Kim, 2014, Cancer research.

The ancient mammalian KRAB zinc finger gene cluster on human chromosome 8q24.3 illustrates principles of C2H2 zinc finger evolution associated with unique expression profiles in human tissues

Guohui Ding, Dirk Koczan, Yixue Li, 2010, BMC Genomics.

Color bar coding the BRCA1 gene on combed DNA: A useful strategy for detecting large gene rearrangements

A. Aurias, D. Stoppa-Lyonnet, S. Mazoyer, 2001, Genes, chromosomes & cancer.

BRCA1 wild-type allele modifies risk of ovarian cancer in carriers of BRCA1 germ-line mutations.

J. Simard, D. Yannoukakos, J. Peyrat, 2003, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

BRCA 1 Wild-Type Allele Modifies Risk of Ovarian Cancer in Carriers of BRCA 1 GermLine Mutations 1

J. Simard, D. Yannoukakos, J. Peyrat, 2003 .

No evidence for germline PTEN mutations in families with breast and brain tumours

C. Lefebvre, P. Laurent-Puig, C. Eng, 1999, International journal of cancer.

Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

S. Richard, B. Teh, Y. Chrétien, 2007, British Journal of Cancer.

Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

S. Richard, B. Teh, Y. Chrétien, 2007, British Journal of Cancer.

A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining

D. Papadopoulo, D. Stoppa-Lyonnet, J. Smith, 2002, Oncogene.

Involvement of PBRM1 in VHL disease-associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway

S. Richard, B. Teh, B. Job, 2021, Oncology letters.

Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease

S. Richard, B. Teh, P. Dessen, 2018, International journal of oncology.

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

S. Richard, A. Baruchel, R. Wenger, 2012, Haematologica.

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

M. Klinger, A. Aurias, D. Stoppa-Lyonnet, 2002, Journal of medical genetics.

Telomere crisis in kidney epithelial cells promotes the acquisition of a microRNA signature retrieved in aggressive renal cell carcinomas.

P. Gestraud, S. Richard, N. Servant, 2013, Carcinogenesis.

Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

S. Richard, B. Teh, Y. Chrétien, 2006, British Journal of Cancer.

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot.

D. Stoppa-Lyonnet, G. Lenoir, O. Sinilnikova, 2002, American journal of human genetics.

Matrix Metalloproteinase 3 Polymorphism

D. Tregouet, P. Beaune, P. Laurent-Puig, 2004, Clinical Cancer Research.

TO JMG Bar code screening on combed DNA for large rearrangements of the BRCA 1 and BRCA 2 genes in French breast cancer families

M. Klinger, A. Aurias, A. Bensimon, 2002 .

Isolation and characterization of renal cancer stem cells from patient-derived xenografts

G. Camussi, S. Chouaib, C. Kieda, 2015, Oncotarget.

Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2.

Bernice Wong Huimin, Dachuan Huang, C. Ong, 2015, Anticancer research.

PHD2 mutation and congenital erythrocytosis with paraganglioma.

F. Galateau-Sallé, S. Richard, J. Pouysségur, 2008, The New England journal of medicine.

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

S. Puig, L. Thomas, S. Richard, 2011, Nature.

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

A. Aurias, D. Stoppa-Lyonnet, P. Pujol, 2002, Oncogene.

Genetic testing for breast cancer predisposition.

D. Stoppa-Lyonnet, M. Gauthier‐Villars, S. Gad, 1999, The Surgical clinics of North America.

Von Hippel-Lindau: how a rare disease illuminates cancer biology.

S. Richard, S. Gad, B. Gardie, 2013, Seminars in cancer biology.

Germline BAP1 mutations predispose to renal cell carcinomas.

G. Gyapay, E. Barillot, S. Richard, 2013, American journal of human genetics.

Somatic von Hippel-Lindau (VHL) gene analysis and clinical outcome under antiangiogenic treatment in metastatic renal cell carcinoma: preliminary results

S. Richard, D. Khayat, H. Izzedine, 2007, Targeted Oncology.

MET Is a Potential Target across All Papillary Renal Cell Carcinomas: Result from a Large Molecular Study of pRCC with CGH Array and Matching Gene Expression Array

N. Rioux-Leclercq, J. Patard, J. Bernhard, 2014, Clinical Cancer Research.

Journal of Occupational Medicine and Toxicology Trichloroethylene Exposure and Somatic Mutations of the Vhl Gene in Patients with Renal Cell Carcinoma

S. Richard, C. Béroud, B. Charbotel, 2022 .

New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease Complex genetics in VHL disease and erythrocytosis

R. Redon, K. Schwarz, S. Knight, 2018 .

Genetic polymorphisms of CES2 and their functional consequences.

P. Beaune, P. Laurent-Puig, S. Gad, 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

Ximing J. Yang, Karl J. Dykema, S. Richard, 2010, BMC Medical Genomics.

Rapid detection of novel BRCA1 rearrangements in high‐risk breast‐ovarian cancer families using multiplex PCR of short fluorescent fragments

Dominique Stoppa-Lyonnet, Thierry Frebourg, D. Stoppa-Lyonnet, 2002, Human mutation.

Identification of a large rearrangement of theBRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

A. Aurias, D. Stoppa-Lyonnet, A. Bensimon, 2001, Journal of medical genetics.

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group.

M. Beckmann, T. Sellers, M. Stratton, 2000, American journal of human genetics.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

R. Redon, K. Schwarz, S. Knight, 2018, Blood.

Mutations of the von Hippel–Lindau gene confer increased susceptibility to natural killer cells of clear-cell renal cell carcinoma

B. Escudier, N. Gervois, S. Gad, 2011, Oncogene.

Is the gene encoding Chibby implicated as a tumour suppressor in colorectal cancer ?

P. Beaune, A. Lièvre, P. Laurent-Puig, 2004, BMC Cancer.

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

S. Richard, M. Sibony, G. Uzan, 2008, American journal of hematology.

Renal Cell Carcinoma Programmed Death-ligand 1, a New Direct Target of Hypoxia-inducible Factor-2 Alpha, is Regulated by von Hippel-Lindau Gene Mutation Status.

S. Richard, G. Le Teuff, B. Janji, 2016, European urology.

Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome

J. Lamoril, E. Longchampt, C. Massard, 2014, F1000Research.

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast‐ovarian cancer family

I. Bièche, A. Aurias, R. Lidereau, 2003, Human mutation.

A germline mutation in PBRM1 predisposes to renal cell carcinoma

S. Richard, B. Teh, B. Gilbert-Dussardier, 2015, Journal of Medical Genetics.

Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

S. Puig, L. Thomas, S. Richard, 2015, Nature.

Journal of Occupational Medicine and Toxicology Trichloroethylene Exposure and Somatic Mutations of the Vhl Gene in Patients with Renal Cell Carcinoma

S. Richard, C. Béroud, B. Charbotel, 2022 .

Open Peer Review Invited Referee Responses Case Report: Expanding the Tumour Spectrum Associated with the Birt-hogg-dubé Cancer Susceptibility Syndrome [v1; Ref Status

J. Lamoril, E. Longchampt, C. Massard, 2022 .

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

R. Redon, K. Schwarz, S. Knight, 2018, Blood.

Journal of Occupational Medicine and Toxicology Trichloroethylene Exposure and Somatic Mutations of the Vhl Gene in Patients with Renal Cell Carcinoma

S. Richard, C. Béroud, B. Charbotel, 2022 .