المؤلفون: Tetsuro Noguchi, Nouha Bouali, Sawsen Besbes, Paul Gesta, Violaine Bourdon, Walid Sabri Hamadou, Abderrahim Khelif, Hélène Dreyfus, Rahma Mani, Yosra Ben Youssef, Laurence Faivre, Zohra Soua, Hélène Zattara, Véronique Mari, Valérie Bonadona, Rym El Abed, Catherine Dugast, Hagay Sobol

المصدر: Bulletin du Cancer. 108:798-805

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Fas Ligand Protein, Tunisia, DNA Mutational Analysis, Mutation, Missense, Apoptosis, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Genetic variation, Gene expression, medicine, Humans, Family, Genetic Predisposition to Disease, Radiology, Nuclear Medicine and imaging, fas Receptor, Caspase 10, Gene, Alleles, Caspase 8, Perforin, Family aggregation, Cancer, Hematology, General Medicine, medicine.disease, Introns, Cross-Sectional Studies, 030104 developmental biology, Oncology, Hematologic Neoplasms, 030220 oncology & carcinogenesis, Cancer research, France, Carcinogenesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d3c5db6412681db8e8f39c18a11331Test
https://doi.org/10.1016/j.bulcan.2021.04.009Test

المؤلفون: R. El Abed, Violaine Bourdon, Ilia Voskoboinik, Halima El Omri, Yosra Ben Youssef, Mohamed Adnène Laatiri, Laëtitia Huiart, François Eisinger, Laetitia Rabayrol, Marc Frénay, Paul Gesta, Liliane Demange, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Monia Zaier, S. Jemni, T Noguchi, Hagay Sobol, Zohra Soua

مصطلحات موضوعية: Hemophagocytic Lymphohistiocytosis and Related Disorders, Hematology, Medicine, Health Sciences, Epidemiology and Treatment of Childhood Leukemia, Public Health, Environmental and Occupational Health, Supporting Health Care Transition from Adolescence to Adulthood, Speech and Hearing, Health Professions, Perforin Gene Mutations, Familial Hemophagocytic Lymphohistiocytosis, Perforin, Missense mutation, Hemophagocytic lymphohistiocytosis, Genetics, FOS Biological sciences, Gene, Germline mutation, Allele, Mutation, Germline, Mutant, Biology, Immunology, FOS Clinical medicine, Cancer research, Disease, Internal medicine, Cytotoxic T cell, In vitro

العلاقة: https://dx.doi.org/10.60692/81jt8-hys58Test

الإتاحة: https://doi.org/10.60692/jz0yr-42r8610.60692/81jt8-hys58Test

المؤلفون: Violaine Bourdon, Abderrahim Khelif, Hagay Sobol, Hélène Dreyfus, Walid Sabri Hamadou, Laurence Faivre, Véronique Mari, Valérie Bonadona, Catherine Dugast, Hélène Zattara, François Eisinger, Yosra Ben Youssef, B. Achour, Zohra Soua, Sawsen Besbes, Paul Gesta, H. Regaieg, Testsuro Noguchi, Rahma Mani

المصدر: Bulletin du cancer. 104(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Tunisia, Chronic lymphocytic leukemia, Context (language use), Breast Neoplasms, Gene mutation, Biology, DNA sequencing, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetic predisposition, Humans, Radiology, Nuclear Medicine and imaging, Genes, Tumor Suppressor, Genetic Predisposition to Disease, Gene, Genetics, ADP-Ribosylation Factors, Cancer, Family aggregation, Genetic Variation, Hematology, General Medicine, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Hematologic Neoplasms, Female, France

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b684e42fceff9f2298d00a395c808bcbTest
https://pubmed.ncbi.nlm.nih.gov/27866680Test

المؤلفون: Nadine Andrieu, Bruno Buecher, Sylvie Mazoyer, Paul Gesta, Carole Verny-Pierre, Amandine Garcia, Dominique Stoppa-Lyonnet, Monique Buisson, Jean-Pierre Fricker, Chloe Tessereau, Philippe Vennin, Séverine Eon-Marchais, Olga M. Sinilnikova, Marion Gautier-Villars, Laurence Faivre, Catherine Noguès, Valérie Sornin, Isabelle Coupier, Francesca Damiola, Muriel Belotti, Marie-Gabrielle Dondon, Catherine Dugast, Laure Barjhoux, Alain Lortholary, Olivier Caron

المساهمون: Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR), Service de génétique, Institut Curie Paris, Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CRLC Oncologie Val d'Aurelle, Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université Lille Nord de France (COMUE)-UNICANCER, Centre Catherine-de-Sienne [Nantes] (CCS), Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), CRLCC Eugène Marquis (CRLCC), CRLCC Paul Strauss, Hôpital d'Enfants, Service de Médecine Nucléaire, Centre Georges-François Leclerc [Dijon] (CGFL), Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Financial support for GENESIS was provided by the Ligue Nationale contre le Cancer (three grants: PRE05/DSL, PRE07/DSL, PRE11/NA), the French National Institute of Cancer (Grant INCa n°2008-029/LL-LC) and the comprehensive cancer center SiRIC (Site de Recherche Intégrée sur le Cancer: Grant INCa-DGOS-4654)., Mines Paris - PSL (École nationale supérieure des mines de Paris), Université de Lille-UNICANCER, Lissalde, Claire

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (9), pp.1324-1329. ⟨10.1038/ejhg.2015.284⟩
European Journal of Human Genetics, 2016, 24 (9), pp.1324-1329. ⟨10.1038/ejhg.2015.284⟩

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Adult, medicine.medical_specialty, endocrine system diseases, Breast Neoplasms, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, [SDV.CAN] Life Sciences [q-bio]/Cancer, Genetic linkage, Molecular genetics, Genetics, medicine, Missense mutation, Humans, skin and connective tissue diseases, Gene, 3' Untranslated Regions, Genetics (clinical), Aged, BRCA2 Protein, [SDV.GEN]Life Sciences [q-bio]/Genetics, Three prime untranslated region, BRCA1 Protein, Middle Aged, medicine.disease, 3. Good health, MicroRNAs, 030104 developmental biology, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, 030220 oncology & carcinogenesis, Case-Control Studies, Mutation, MCF-7 Cells, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, HeLa Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33dbe4be4e8217c064b355ddf45f8ffTest
https://www.hal.inserm.fr/inserm-01994617/documentTest

المؤلفون: Hélène Zattara, Ilia Voskoboinik, Halima El Omri, Saloua Yacoub Jemni, Laurence Faivre, Hagay Sobol, Catherine Dugast, Valérie Bonadona, Hélène Dreyfus, Testsuro Noguchi, Laetitia Huiart, Yosra Ben Youssef, Rim El Abed, Marc Frenay, Liliane Demange, Violaine Bourdon, Paul Gesta, Mohamed Adnène Laatiri, François Eisinger, Laetitia Rabayrol, Monia Zaier, Zohra Soua

المصدر: Hereditary Cancer in Clinical Practice
Hereditary Cancer in Clinical Practice, Vol 9, Iss 1, p 9 (2011)

مصطلحات موضوعية: PRF1, lcsh:QH426-470, hematological familial malignancies, Gene mutation, lcsh:RC254-282, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Missense mutation, Gene, Genetics (clinical), 030304 developmental biology, Genetics, 0303 health sciences, Hemophagocytic lymphohistiocytosis, biology, Research, Family aggregation, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, lcsh:Genetics, Oncology, Perforin, germline mutation, 030220 oncology & carcinogenesis, Immunology, biology.protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc247c4fdacd860b9b5b28afa8e697e9Test
https://pubmed.ncbi.nlm.nih.gov/21936944Test

المؤلفون: Laurent Siproudhis, Dominique Bonneau, Martine Blayau, Jean-François Bretagne, Véronique David, Bruno Buecher, Sylvain Manfredi, Catherine Dugast, Guillaume Bouguen

المصدر: Diseases of the colon and rectum. 50(10)

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Genes, APC, Genotype, Colorectal cancer, Adenocarcinoma, medicine.disease_cause, Polymerase Chain Reaction, DNA Glycosylases, Genotype-phenotype distinction, MUTYH, Medicine, Humans, Gene, Aged, Mutation, business.industry, Gastroenterology, General Medicine, Base excision repair, Middle Aged, medicine.disease, Phenotype, Adenomatous Polyposis Coli, Cancer research, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5afc8dea36ed3d913289f8bdaa4c9969Test
https://pubmed.ncbi.nlm.nih.gov/17674103Test

المؤلفون: Nicholas K. Hayward, Hensin Tsao, Mark J. Eliason, Suzanne Egyhazi, Paola Minghetti, Paola Ghiorzo, Alisa M. Goldstein, Julie Lang, Juliette Randerson-Moor, Nicole Basset-Seguin, Clasine van der Drift, D. Timothy Bishop, Nicholas G. Martin, Michel Longy, Guang Yang, Sabina Nasti, Adèle C. Green, Valérie Chaudru, Donato Calista, Sara Gargiulo, Florent Grange, Francisco Cuellar, Linda Whitaker, Joseph Malvehy, Esther Azizi, Richard F. Kefford, David E. Elder, Håkan Olsson, Nelleke A. Gruis, Joan Anton Puig-Butille, David W. Hogg, Margaret A. Tucker, Sushila Mistry, Wilma Bergman, Johan Westerdahl, Christian Ingvar, J. P. Cesarini, Jacqueline Chevrant-Breton, Leny van Mourik, Michela Mantelli, Arupa Ganguly, Jean -Marc Limacher, F. Truchetet, Maria Teresa Landi, Kristin B. Niendorf, Elizabeth A. Holland, Anna Måsbäck, Graham J. Mann, Agnès Chompret, Felix Pavlotsky, Veronica Magnusson, Anton Platz, Joanne F. Aitken, Brigitte Bressac-de Paillerets, Michael Ming, Marie-Françoise Avril, F. Boitier, J. L. Michel, May Chan, R. Cervera, Helen Schmid, Johan Hansson, Rosa M. Martí, Florence Demenais, Celia Badenas, Eitan Friedman, David C. Whiteman, Catherine Dugast, Rainer Tuominen, Lorenza Pastorino, D. Couillet, Emanuel Yakobson, T. Lesimple, Åke Borg, Pascal Joly, Julia A. Newton Bishop, Coby Out-Luiting, Peter A. Kanetsky, Caroline Kanengiesser, Sara Gliori, Diana Linden, Joan Brunet-Vidal, Christine Lasset, William Bruno, Susana Puig, Lisa A. Cannon Albright, Frans A. van Nieuwpoort, Alon Scope, Mitchell S. Stark, Giovanna Bianchi-Scarrà, B. Sassolas, Patricia Van Belle, Elizabeth M. Gillanders, Mark Harland, Jeanet A.C. ter Huurne, Rona M. MacKie, Femke A. de Snoo, Sancy A. Leachman, Jane M. Palmer

المصدر: Cancer research. 66(20)

مصطلحات موضوعية: Oncology, Adult, Uveal Neoplasms, Cancer Research, medicine.medical_specialty, Pathology, Pancreatic disease, Skin Neoplasms, Molecular Sequence Data, Neoplasms, Nerve Tissue, Mutation, Missense, medicine.disease_cause, p14arf, CDKN2A, Pancreatic cancer, Internal medicine, medicine, Animals, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Hereditary Melanoma, Gene, Melanoma, Mutation, Sequence Homology, Amino Acid, business.industry, Genes, p16, Age Factors, Middle Aged, medicine.disease, Pancreatic Neoplasms, business, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e4fa0860aa1b2466b099993058f1ff6Test
https://pubmed.ncbi.nlm.nih.gov/17047042Test

المؤلفون: S. Reggoug, Alain Ropert, Abdelfatteh Zeddini, Jean-François Bretagne, Martine Blayau, Catherine Dugast, Bernard Meunier, Pierrick Péquin

المصدر: The American Journal of Gastroenterology. 104:2648-2649

مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, Hepatology, business.industry, MUTYH-Associated Polyposis, Gastroenterology, Base excision repair, medicine.disease_cause, Phenotype, Germline mutation, MUTYH, Cancer research, Medicine, Gastric acid, business, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b2a5fd49dc82913858600c44b59fbb3eTest
https://doi.org/10.1038/ajg.2009.344Test

المؤلفون: Dominique Stoppa-Lyonnet, Isabelle Tournier, Thierry Frebourg, T.D. N’Guyen, Mario Tosi, Florence Coulet, Agnès Hardouin, Sylvie Mazoyer, C Capoulade-Metay, Danielle Muller, Valérie Bonadona, Rosette Lidereau, Christophe Philippe, Alain Lortholary, Florent Soubrier, Federica Casilli, Philippe Maillet, Catherine Noguès, Laurence Gladieff, Hagay Sobol, Catherine Dugast, Christine Maugard, Agnès Chompret, Christine Toulas, Stéphane Bézieau, Violaine Bourdon, Pierre O. Chappuis, Diane Provencher, Jean-Pierre Fricker, Claude Houdayer, Laurence Faivre, Paul Gesta, Pascaline Berthet, Olga M. Sinilnikova, C. Delvincourt

المساهمون: Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2006, 43, pp.e49-e49
Journal of Medical Genetics, 2006, 43, pp.e49-e49

مصطلحات موضوعية: [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], medicine.medical_specialty, endocrine system diseases, Genetic counseling, Genes, BRCA2, Biology, Polymerase Chain Reaction, Germline, Exon, Breast cancer, Germline mutation, Molecular genetics, Genetics, medicine, Humans, skin and connective tissue diseases, Gene, Germ-Line Mutation, Genetics (clinical), Sequence Deletion, Exons, Middle Aged, medicine.disease, Molecular biology, female genital diseases and pregnancy complications, Male breast cancer, Female, Online Mutation Report

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4acc701f98f5c834d4a7520d2e7ae21dTest
https://doi.org/10.1136/jmg.2005.040212Test