Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Clotilde Penet"'
Autor:
Lieske H. Schrijver, Antonis C. Antoniou, Håkan Olsson, Thea M. Mooij, Marie-José Roos-Blom, Leyla Azarang, Julian Adlard, Munaza Ahmed, Daniel Barrowdale, Rosemarie Davidson, Alan Donaldson, Ros Eeles, D. Gareth Evans, Debra Frost, Alex Henderson, Louise Izatt, Kai-Ren Ong, Valérie Bonadona, Isabelle Coupier, Laurence Faivre, Jean-Pierre Fricker, Paul Gesta, Klaartje van Engelen, Agnes Jager, Fred H. Menko, Marian J.E. Mourits, Christian F. Singer, Yen Y. Tan, Lenka Foretova, Marie Navratilova, Rita K. Schmutzler, Carolina Ellberg, Anne-Marie Gerdes, Trinidad Caldes, Jacques Simard, Edith Olah, Anna Jakubowska, Johanna Rantala, Ana Osorio, John L. Hopper, Kelly-Anne Phillips, Roger L. Milne, Mary Beth Terry, Catherine Noguès, Christoph Engel, Karin Kast, David E. Goldgar, Flora E. van Leeuwen, Douglas F. Easton, Nadine Andrieu, Matti A. Rookus, Lilian Laborde, Pauline Pontois, Emanuelle Breysse, Margot Berline, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Chrystelle Colas, Olivier Caron, Emmanuelle Mouret-Fourme, Claire Saule, Christine Lasset, Sophie Dussard, Pascaline Berthet, Elisabeth Luporsi, Véronique Mari, Laurence Gladieff, Stéphanie Chieze-Valéro, Jessica Moretta, Hagay Sobol, François Eisinger, Cornel Popovici, Michel Longy, Louise Grivelli, Florent Soubrier, Patrick Benusiglio, Pascal Pujol, Carole Corsini, Marie-Emmanuelle Morin-Meschin, Alain Lortholary, Claude Adenis, Audrey Maillez, Tan Dat Nguyen, Capucine Delnatte, Caroline Abadie, Julie Tinat, Isabelle Tennevet, Christine Maugard, Yves-Jean Bignon, Mathilde Gay Bellile, Clotilde Penet, Hélène Dreyfus, Odile Cohen-Haguenauer, Brigitte Gilbert, Laurence Venat-Bouvet, Dominique Leroux, Clémentine Legrand, Hélène Zattara-Cannoni, Valérie Layet, Elodie Lacaze, Sandra Fert-Ferrer, Odile Bera, Brigitte Gilbert-Dussardier, David Tougeron, Hakima Lallaoui, M.A. Rookus, F.B.L. Hogervorst, F.E. van Leeuwen, M.A. Adank, M.K. Schmidt, D.J. Jenner, J.M. Collée, A.M.W. van den Ouweland, M.J. Hooning, I.A. Boere, C.J. van Asperen, P. Devilee, R.B. van der Luijt, T.C.T.E.F. van Cronenburg, M.R. Wevers, A.R. Mensenkamp, M.G.E.M. Ausems, M.J. Koudijs, I. van de Beek, K. van Engelen, J.J.P. Gille, E.B. Gómez García, M.J. Blok, M. de Boer, L.P.V. Berger, A.H. van der Hout, M.J.E. Mourits, G.H. de Bock, S. Siesling, J. Verloop, E.C. van den Broek
Publikováno v:
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. MOSBY-ELSEVIER
Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 51.e1-51.e17
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2021, 225 (1), pp.51.e1-51.e17. ⟨10.1016/j.ajog.2021.01.014⟩
American journal of obstetrics and gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
Schrijver, L H, Antoniou, A C, Olsson, H, Mooij, T M, Roos-Blom, M J, Azarang, L, Adlard, J, Ahmed, M, Barrowdale, D, Davidson, R, Donaldson, A, Eeles, R, Evans, D G, Frost, D, Henderson, A, Izatt, L, Ong, K R, Bonadona, V, Coupier, I, Faivre, L, Fricker, J P, Gesta, P, van Engelen, K, Jager, A, Menko, F H, Mourits, M J E, Singer, C F, Tan, Y Y, Foretova, L, Navratilova, M, Schmutzler, R K, Ellberg, C, Gerdes, A M, Caldes, T, Simard, J, Olah, E, Jakubowska, A, Rantala, J, Osorio, A, Hopper, J L, Phillips, K A, Milne, R L, Beth Terry, M, Noguès, C, Engel, C, Kast, K, Goldgar, D E, van Leeuwen, F E, Easton, D F, Andrieu, N, Rookus, M A & Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
EMBRACE, GENEPSO, HEBON, IBCCS & et al. 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study ', American Journal of Obstetrics and Gynecology . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 1, pp. 51.e1-51.e17
Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 51.e1-51.e17
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2021, 225 (1), pp.51.e1-51.e17. ⟨10.1016/j.ajog.2021.01.014⟩
American journal of obstetrics and gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
Schrijver, L H, Antoniou, A C, Olsson, H, Mooij, T M, Roos-Blom, M J, Azarang, L, Adlard, J, Ahmed, M, Barrowdale, D, Davidson, R, Donaldson, A, Eeles, R, Evans, D G, Frost, D, Henderson, A, Izatt, L, Ong, K R, Bonadona, V, Coupier, I, Faivre, L, Fricker, J P, Gesta, P, van Engelen, K, Jager, A, Menko, F H, Mourits, M J E, Singer, C F, Tan, Y Y, Foretova, L, Navratilova, M, Schmutzler, R K, Ellberg, C, Gerdes, A M, Caldes, T, Simard, J, Olah, E, Jakubowska, A, Rantala, J, Osorio, A, Hopper, J L, Phillips, K A, Milne, R L, Beth Terry, M, Noguès, C, Engel, C, Kast, K, Goldgar, D E, van Leeuwen, F E, Easton, D F, Andrieu, N, Rookus, M A & Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
EMBRACE, GENEPSO, HEBON, IBCCS & et al. 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study ', American Journal of Obstetrics and Gynecology . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 1, pp. 51.e1-51.e17
Contains fulltext : 237895.pdf (Publisher’s version ) (Open Access) BACKGROUND: Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contraceptive use. Although the effects of using oral c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679a56d0abad49f333383dc486d3e8ab
http://www.ajog.org/article/S0002937821000387/pdf
http://www.ajog.org/article/S0002937821000387/pdf
Autor:
Valérie Bonadona, H. Schvartz, Patrick Combemale, Clotilde Penet, Nadem Soufir, Odile Cabaret, A. de la Fouchardière, L. Savin, Brigitte Bressac-de Paillerets
Publikováno v:
Clinical Genetics. 88:273-277
The BRCA1-associated protein 1 (BAP1) gene encodes a nuclear deubiquitin enzyme which acts as a tumour suppressor. Loss of function germline mutations of BAP1 have been associated with an enhanced risk of uveal and cutaneous melanomas, mesothelioma,
Autor:
Sylvie Mazoyer, Valérie Layet, Carole Verny-Pierre, Claude Adenis, Marie-Gabrielle Dondon, Isabelle Mortemousque, Morgane Marcou, Olga M. Sinilnikova, Philippe Jonveaux, Anne Floquet, François Eisinger, Yves-Jean Bignon, Catherine Noguès, Laurence Gladieff, Capucine Delnatte, Olivier Caron, Bruno Buecher, Pascaline Berthet, Anne Fajac, Clotilde Penet, Séverine Eon-Marchais, Sandra Fert-Ferrer, Florent Soubrier, Dominique Stoppa-Lyonnet, Chrystelle Colas, Isabelle Coupier, Christine Lasset, Emmanuelle Barouk-Simonet, Michel Longy, Jean-Pierre Fricker, Jean Chiesa, Sophie Giraud, Dominique Leroux, Catherine Dugast, Sophie Lejeune-Dumoulin, Hélène Dreyfus, Annie Chevrier, Odile Cohen-Haguenauer, Thierry Frebourg, Liliane Demange, Julie Tinat, Fabienne Lesueur, Pascal Pujol, Emmanuelle Mouret-Fourme, Elisabeth Luporsi, Christine Maugard, Dorothée Le Gal, Noura Mebirouk, Séverine Audebert-Bellanger, Laure Barjhoux, Muriel Belotti, Eve Cavaciuti, Marion Gauthier-Villars, Marie-Agnès Collonge-Rame, Paul Gesta, Jean-Marc Limacher, Odile Bera, Lucie Toulemonde, Anne Tardivon, Fabienne Prieur, Laurence Faivre, Juana Beauvallet, Alain Lortholary, Nadine Andrieu, François Cornelis, Marc Frenay, Valérie Sornin, Laurence Venat-Bouvet, Francesca Damiola, Valérie Bonadona
Publikováno v:
BMC Cancer
BMC Cancer, 2016, 16 (1), pp.606-606. ⟨10.1186/s12885-015-2028-9⟩
BMC Cancer, BioMed Central, 2016, 16 (1), pp.606-606. ⟨10.1186/s12885-015-2028-9⟩
BMC Cancer, 2016, 16 (1), pp.606-606. ⟨10.1186/s12885-015-2028-9⟩
BMC Cancer, BioMed Central, 2016, 16 (1), pp.606-606. ⟨10.1186/s12885-015-2028-9⟩
Background Less than 20 % of familial breast cancer patients who undergo genetic testing for BRCA1 and BRCA2 carry a pathogenic mutation in one of these two genes. The GENESIS (GENE SISter) study was designed to identify new breast cancer susceptibil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e441c687b1238500e6c41a65dcf7ba
https://hal.univ-lorraine.fr/hal-01662200/document
https://hal.univ-lorraine.fr/hal-01662200/document
Publikováno v:
European Journal of Medical Genetics. 54:60-62
Between January 1994 and December 2004, 696 patients with localized endometrial carcinoma have been treated at the Institute Jean-Godinot. Patients were selected on the following criteria: histologically proven adenocarcinoma of the endometrium; age
Autor:
M. Benfodda, Hui-Han Hu, Olga M. Sinilnikova, André Nicolas, Sophie Gad, Dominique Stoppa-Lyonnet, Nadem Soufir, Christine Maugard, Valérie Bonadona, Bénédicte Richaudeau, Nadine Andrieu, Odile Cabaret, Clotilde Penet, Jason Sellers, Olivier Caron, Laurence Desjardins, Xavier Renaudin, Marc-Henri Stern, Stéphane Richard, Paul Gesta, Gabor Gyapay, Olivier Delattre, Virginie Caux-Moncoutier, Elodie Manié, Tatiana Popova, Marie-Françoise Avril, Xavier Sastre-Garau, Lucie Hebert, Virginie Raynal, Catherine Dubois-d’Enghien, Virginie Jacquemin, Brigitte Bressac-de Paillerets, Emmanuel Barillot, Antoine De Pauw
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2013, 92, pp.974--80. ⟨10.1016/j.ajhg.2013.04.012⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92, pp.974--80. ⟨10.1016/j.ajhg.2013.04.012⟩
American Journal of Human Genetics, 2013, 92, pp.974--80. ⟨10.1016/j.ajhg.2013.04.012⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2013, 92, pp.974--80. ⟨10.1016/j.ajhg.2013.04.012⟩
The genetic cause of some familial nonsyndromic renal cell carcinomas (RCC) defined by at least two affected first-degree relatives is unknown. By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b372f878205244b46d7949eaa4969554
https://hal.science/hal-02282699
https://hal.science/hal-02282699
Autor:
Valérie Cormier-Daire, Céline Huber, Clotilde Penet, Arnold Munnich, S Rumeur, P Padovani, Sylvie Odent, M. Le Merrer
Publikováno v:
Journal of Medical Genetics. 38:191-193
Editor—Diastrophic dysplasia was originally ascribed to sulphate transporter gene ( DTDST ) mutations. The DTDST gene is now also known to account for a variety of bone dysplasias including diastrophic dysplasia, atelosteogenesis type II (AO2), and
Autor:
Serge Romana, Isabelle Perrault, Clotilde Penet, Josseline Kaplan, Jean-Michel Rozet, Marc Jeanpierre, Jean Frézal, Arnold Munnich, Lucilia Lopes, Luisa Coutinho dos Santos, Olivier Gribouval, Ruth Yu-Umesono, Fernando Ferraz, Eric Souied, Shin-Ichiro Takezawa, Dominique Ducroq, Sylvie Gerber
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte
Autor:
Clotilde Penet, Nathalie Dagoneau, Lydie Burglen, Valérie Cormier-Daire, Rima Nabbout, Arnold Munnich, Olivier Dulac, Isabelle Desguerre, Christine Soufflet
Publikováno v:
American journal of human genetics. 67(4)
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by generalized seizures in the first hours of life and responding only to pyridoxine hydrochloride. The pathogenesis of PDE is unknown, but an alteration in the