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Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression
Author / Creator:Klomp, Jeff A ; Petillo, David ; Niemi, Natalie M ; Dykema, Karl J ; Chen, Jindong ; Yang, Ximing J ; Sääf, Annika ; Zickert, Peter ; Aly, Markus ; Bergerheim, Ulf ; Nordenskjöld, Magnus ; Gad, Sophie ; Giraud, Sophie ; Denoux, Yves ; Yonneau, Laurent ; Méjean, Arnaud ; Vasiliu, Viorel ; Richard, Stéphane ; MacKeigan, Jeffrey P ; Teh, Bin T ; Furge, Kyle A
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2010-12, Vol.3 (1), p.59-59, Article 59
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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
Author / Creator:Lorenz, Peter ; Dietmann, Sabine ; Wilhelm, Thomas ; Koczan, Dirk ; Autran, Sandra ; Gad, Sophie ; Wen, Gaiping ; Ding, Guohui ; Li, Yixue ; Rousseau-Merck, Marie-Françoise ; Thiesen, Hans-Juergen
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2010-03, Vol.11 (1), p.206-206, Article 206
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Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome
Author / Creator:Benusiglio, Patrick R. ; Gad, Sophie ; Massard, Christophe ; Carton, Edith ; Longchampt, Elisabeth ; Faudot, Tiffany ; Lamoril, Jérôme ; Ferlicot, Sophie
Publisher:England: Faculty of 1000 Ltd
Journal title:F1000 research, 2014, Vol.3, p.159-159
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Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma
Author / Creator:Charbotel, Barbara ; Gad, Sophie ; Caïola, Delphine ; Béroud, Christophe ; Fevotte, Joelle ; Bergeret, Alain ; Ferlicot, Sophie ; Richard, Stéphane
Publisher:England: BioMed Central Ltd
Journal title:Journal of occupational medicine and toxicology (London, England), 2007-11, Vol.2 (1), p.13-13
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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma
Author / Creator:Bertolotto, Corine ; Lesueur, Fabienne ; Giuliano, Sandy ; Strub, Thomas ; de Lichy, Mahaut ; Bille, Karine ; Dessen, Philippe ; d’Hayer, Benoit ; Mohamdi, Hamida ; Remenieras, Audrey ; Maubec, Eve ; de la Fouchardière, Arnaud ; Molinié, Vincent ; Vabres, Pierre ; Dalle, Stéphane ; Poulalhon, Nicolas ; Martin-Denavit, Tanguy ; Thomas, Luc ; Andry-Benzaquen, Pascale ; Dupin, Nicolas ; Boitier, Françoise ; Rossi, Annick ; Perrot, Jean-Luc ; Labeille, Bruno ; Robert, Caroline ; Escudier, Bernard ; Caron, Olivier ; Brugières, Laurence ; Saule, Simon ; Gardie, Betty ; Gad, Sophie ; Richard, Stéphane ; Couturier, Jérôme ; Teh, Bin Tean ; Ghiorzo, Paola ; Pastorino, Lorenza ; Puig, Susana ; Badenas, Celia ; Olsson, Hakan ; Ingvar, Christian ; Rouleau, Etienne ; Lidereau, Rosette ; Bahadoran, Philippe ; Vielh, Philippe ; Corda, Eve ; Blanché, Hélène ; Zelenika, Diana ; Galan, Pilar ; Chaudru, Valérie ; Lenoir, Gilbert M. ; Lathrop, Mark ; Davidson, Irwin ; Avril, Marie-Françoise ; Demenais, Florence ; Ballotti, Robert ; Bressac-de Paillerets, Brigitte
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2011-12, Vol.480 (7375), p.94-98
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ArticlesPeer ReviewedFull Text
PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
Author / Creator:Ladroue, Charline ; Carcenac, Romain ; Leporrier, Michel ; Gad, Sophie ; Le Hello, Claire ; Galateau-Salle, Françoise ; Feunteun, Jean ; Pouysségur, Jacques ; Richard, Stéphane ; Gardie, Betty
Publisher:Waltham, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2008-12, Vol.359 (25), p.2685-2692
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Brief Report: PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma
Author / Creator:Ladroue, Charline ; Carcenac, Romain ; Leporrier, Michel ; Gad, Sophie ; Le Hello, Claire ; Galateau-Salle, Françoise ; Feunteun, Jean ; Pouysségur, Jacques ; Richard, Stéphane ; Gardie, Betty
Publisher:Boston: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2008-12, Vol.359 (25), p.2685
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Integrative analysis of dysregulated microRNAs and mRNAs in multiple recurrent synchronized renal tumors from patients with von Hippel-Lindau disease
Author / Creator:Gattolliat, Charles-Henry ; Couv, Sophie ; Meurice, Guillaume ; Or ar, C dric ; Droin, Nathalie ; Chiquet, Mathieu ; Ferlicot, Sophie ; Verkarre, Virginie ; Vasiliu, Viorel ; Molini, Vincent ; M jean, Arnaud ; Dessen, Philippe ; Giraud, Sophie ; Bressac-De-Paillerets, Brigitte ; Gardie, Betty ; Tean Teh, Bin ; Richard, St phane ; Gad, Sophie
Publisher:Athens: Spandidos Publications
Journal title:International journal of oncology, 2018-10, Vol.53 (4), p.1455-1468
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A germline mutation in PBRM1 predisposes to renal cell carcinoma
Author / Creator:Benusiglio, Patrick R ; Couvé, Sophie ; Gilbert-Dussardier, Brigitte ; Deveaux, Sophie ; Le Jeune, Hélène ; Da Costa, Mélanie ; Fromont, Gaëlle ; Memeteau, Françoise ; Yacoub, Mokrane ; Coupier, Isabelle ; Leroux, Dominique ; Méjean, Arnaud ; Escudier, Bernard ; Giraud, Sophie ; Gimenez-Roqueplo, Anne-Paule ; Blondel, Christophe ; Frouin, Eric ; Teh, Bin T ; Ferlicot, Sophie ; Bressac-de Paillerets, Brigitte ; Richard, Stéphane ; Gad, Sophie
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-06, Vol.52 (6), p.426-430
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Involvement of PBRM1 in VHL disease‑associated clear cell renal cell carcinoma and its putative relationship with the HIF pathway
Author / Creator:Gad, Sophie ; Le Teuff, Gwenaël ; Nguyen, Baptiste ; Verkarre, Virginie ; Duchatelle, Veronique ; Molinie, Vincent ; Posseme, Katia ; Grandon, Benjamin ; Da Costa, Melanie ; Job, Bastien ; Meurice, Guillaume ; Droin, Nathalie ; Mejean, Arnaud ; Couve, Sophie ; Renaud, Flore ; Gardie, Betty ; Teh, Bin ; Richard, Stephane ; Ferlicot, Sophie
Publisher:Athens: Spandidos Publications
Journal title:Oncology letters, 2021-12, Vol.22 (6), p.1, Article 835
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Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments
Author / Creator:Casilli, Federica ; Di Rocco, Zorika Christiana ; Gad, Sophie ; Tournier, Isabelle ; Stoppa-Lyonnet, Dominique ; Frebourg, Thierry ; Tosi, Mario
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2002-09, Vol.20 (3), p.218-226
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A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining
Author / Creator:Baldeyron, Céline ; Jacquemin, Emilie ; Smith, Julianne ; Jacquemont, Céline ; De Oliveira, Isabelle ; Gad, Sophie ; Feunteun, Jean ; Stoppa-Lyonnet, Dominique ; Papadopoulo, Dora
Publisher:Basingstoke: Nature Publishing
Journal title:Oncogene, 2002-02, Vol.21 (9), p.1401-1410
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Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families
Author / Creator:Gad, Sophie ; Caux-Moncoutier, Virginie ; Pagès-Berhouet, Sabine ; Gauthier-Villars, Marion ; Coupier, Isabelle ; Pujol, Pascal ; Frénay, Marc ; Gilbert, Brigitte ; Maugard, Christine ; Bignon, Yves-Jean ; Chevrier, Annie ; Rossi, Annick ; Fricker, Jean-Pierre ; Nguyen, Tan Dat ; Demange, Liliane ; Aurias, Alain ; Bensimon, Aaron ; Stoppa-Lyonnet, Dominique
Publisher:Basingstoke: Nature Publishing
Journal title:Oncogene, 2002-10, Vol.21 (44), p.6841-6847
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Somatic von Hippel-Lindau (VHL) gene analysis and clinical outcome under antiangiogenic treatment in metastatic renal cell carcinoma: preliminary results
Author / Creator:Gad, Sophie ; Sultan-Amar, Valentine ; Meric, Jean-Baptiste ; Izzedine, Hassan ; Khayat, David ; Richard, Stéphane ; Rixe, Olivier
Publisher:Paris: Springer Nature B.V
Journal title:Targeted oncology, 2007-01, Vol.2 (1), p.3-6
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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients
Author / Creator:Fabbri, Lucilla ; Dufies, Maeva ; Lacas-Gervais, Sandra ; Gardie, Betty ; Gad-Lapiteau, Sophie ; Parola, Julien ; Nottet, Nicolas ; Meyenberg Cunha de Padua, Monique ; Contenti, Julie ; Borchiellini, Delphine ; Ferrero, Jean-Marc ; Leclercq, Nathalie Rioux ; Ambrosetti, Damien ; Mograbi, Baharia ; Richard, Stéphane ; Viotti, Julien ; Chamorey, Emmanuel ; Sadaghianloo, Nirvana ; Rouleau, Matthieu ; Craigen, William J. ; Mari, Bernard ; Clavel, Stéphan ; Pagès, Gilles ; Pouysségur, Jacques ; Bost, Frédéric ; Mazure, Nathalie M.
Publisher:Australia: Ivyspring International Publisher Pty Ltd
Journal title:Theranostics, 2020-01, Vol.10 (6), p.2696-2713
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Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing
Author / Creator:Gad, Sophie ; Scheuner, Maren T ; Pages-Berhouet, Sabine ; Caux-Moncoutier, Virginie ; Bensimon, Aaron ; Aurias, Alain ; Pinto, Mark ; Stoppa-Lyonnet, Dominique
Publisher:London: BMJ
Journal title:Journal of medical genetics, 2001-06, Vol.38 (6), p.388-392
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Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family
Author / Creator:Gad, Sophie ; Bièche, Ivan ; Barrois, Michel ; Casilli, Federica ; Pages-Berhouet, Sabine ; Dehainault, Catherine ; Gauthier-Villars, Marion ; Bensimon, Aaron ; Aurias, Alain ; Lidereau, Rosette ; Paillerets, Brigitte Bressac-de ; Tosi, Mario ; Mazoyer, Sylvie ; Stoppa-Lyonnet, Dominique
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-06, Vol.21 (6), p.654-654
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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients
Author / Creator:Fabbri, Lucilla ; Dufies, Maeva ; Lacas-Gervais, Sandra ; Gardie, Betty ; Gad-Lapiteau, Sophie ; Parola, Julien ; Nottet, Nicolas ; Meyenberg Cunha de Padua, Monique ; Contenti, Julie ; Borchiellini, Delphine ; Ferrero, Jean-Marc ; Leclercq, Nathalie Rioux ; Ambrosetti, Damien ; Mograbi, Baharia ; Richard, Stéphane ; Viotti, Julien ; Chamorey, Emmanuel ; Sadaghianloo, Nirvana ; Rouleau, Matthieu ; Craigen, William ; Mari, Bernard ; Clavel, Stéphan ; Pagès, Gilles ; Pouysségur, Jacques ; Bost, Frédéric ; Mazure, Nathalie
Publisher:Ivyspring International Publisher
Journal title:Theranostics, 2020, Vol.10 (6), p.2696-2713
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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients
Author / Creator:Mazure, Nathalie M ; Fabbri, Lucilla ; Dufies, Maeva ; Lacas-Gervais, Sandra ; Gardie, Betty ; Gad-Lapiteau, Sophie ; Parola, Julien ; Nottet, Nicolas ; Meyenberg Cunha de Padua, Monique ; Contenti, Julie ; Borchiellini, Delphine ; Ferrero, Jean-Marc ; Leclercq, Nathalie Rioux ; Ambrosetti, Damien ; Mograbi, Baharia ; Richard, Stéphane ; Viotti, Julien ; Chamorey, Emmanuel ; Sadaghianloo, Nirvana ; Rouleau, Matthieu ; Craigen, William ; Mari, Bernard ; Clavel, Stéphan ; Pagès, Gilles ; Pouysségur, Jacques ; Bost, Frédéric ; Mazure, Nathalie
Publisher:Ivyspring International Publisher
Journal title:Theranostics, 2020, Vol.10 (6), p.2696-2713
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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients
Author / Creator:Frédéric, Bost ; Fabbri, Lucilla ; Dufies, Maeva ; Lacas-Gervais, Sandra ; Gardie, Betty ; Gad-Lapiteau, Sophie ; Parola, Julien ; Nottet, Nicolas ; Meyenberg Cunha de Padua, Monique ; Contenti, Julie ; Borchiellini, Delphine ; Ferrero, Jean-Marc ; Leclercq, Nathalie Rioux ; Ambrosetti, Damien ; Mograbi, Baharia ; Richard, Stéphane ; Viotti, Julien ; Chamorey, Emmanuel ; Sadaghianloo, Nirvana ; Rouleau, Matthieu ; Craigen, William ; Mari, Bernard ; Clavel, Stéphan ; Pagès, Gilles ; Pouysségur, Jacques ; Bost, Frédéric ; Mazure, Nathalie
Publisher:Ivyspring International Publisher
Journal title:Theranostics, 2020, Vol.10 (6), p.2696-2713
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Showing 1 to 20 of 26 results

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

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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

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

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Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma

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

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PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma

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Brief Report: PHD2 Mutation and Congenital Erythrocytosis with Paraganglioma

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

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A germline mutation in PBRM1 predisposes to renal cell carcinoma

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

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

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

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

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

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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients

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Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

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

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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients

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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients

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Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients

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