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: Valérie Bonadona, Chaker Ben Salem, Paul Gesta, Sawsen Besbes, Fabienne Brenet, Hagay Sobol, François Eisinger, Catherine Dugast, Hélène Dreyfus, Mohamed-Adnène Laatiri, Abderrahim Khélif, Testsuro Noguchi, Patrice Dubreuil, Hélène Zattara, Muriel D. David, Sébastien Letard, Laurence Faivre, Angelo Paci, Véronique Mari, Virginie Penard-Lacronique, Sofien Laarif, Violaine Bourdon, Walid-Sabri Hamadou, Yosra Ben Youssef, Zohra Soua

المصدر: Annals of Hematology. 95:1943-1947

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, IDH1, Biology, IDH2, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Humans, Aged, Genetics, Family aggregation, Cancer, Hematology, General Medicine, Middle Aged, medicine.disease, Isocitrate Dehydrogenase, 030104 developmental biology, Isocitrate dehydrogenase, Hematologic Neoplasms, 030220 oncology & carcinogenesis, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14bb8f443e5c67a1bf490089f3d86726Test
https://doi.org/10.1007/s00277-016-2813-9Test

المؤلفون: Walid Sabri Hamadou, Yosra Ben Youssef, Paul Gesta, Aurelie Fabre, Abderrahim Khelif, Testsuro Noguchi, François Eisinger, Mohamed Adnène Laatiri, Zohra Soua, Hélène Dreyfus, Sawsen Besbes, Véronique Mari, Laurence Faivre, Hagay Sobol, Pascaline Gaildrat, Hélène Zattara, Violaine Bourdon, Saloua Yacoub Jemni, Catherine Dugast, Valérie Bonadona, H. Regaieg

المصدر: Annals of Hematology. 95:1043-1050

مصطلحات موضوعية: Adult, Male, Candidate gene, NPM1, Adolescent, Acute myeloblastic leukemia, DNA Mutational Analysis, Biology, Germline, Cohort Studies, 03 medical and health sciences, Exon, 0302 clinical medicine, hemic and lymphatic diseases, Genetic predisposition, medicine, Humans, Proto-Oncogene Proteins c-cbl, Aged, Genetics, Genetic Variation, Nuclear Proteins, Family aggregation, Hematology, General Medicine, Janus Kinase 2, Middle Aged, medicine.disease, Pedigree, Hematologic Neoplasms, 030220 oncology & carcinogenesis, Core Binding Factor Alpha 2 Subunit, Cancer research, Female, Nucleophosmin, 030215 immunology, Minigene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::371a1460270631669f693dd47f4fbe09Test
https://doi.org/10.1007/s00277-016-2678-yTest

المؤلفون: Tan Dat Nguyen, Chabbert-Buffet Nathalie, Capucine Delnatte, Audrey Mailliez, Isabelle Tennevet, Jérôme Lemonnier, Pascaline Berthet, Pascale This, L. Roca, Virginie Galibert, Paul Gesta, Suzette Delaloge, Pascal Pujol, Jean-Pierre Fricker, Jean Chiesa, Alain Lortholary, Hélène Dreyfus, Laurence Venat-Bouvet, Catherine Dugast, Christine Lasset

المصدر: Journal of Clinical Oncology. 38:1534-1534

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, biology, business.industry, Letrozole, medicine.disease, Placebo, Germline, Double blind, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Breast Cancer Prevention Trial, 030220 oncology & carcinogenesis, Internal medicine, biology.protein, medicine, Aromatase, business, 030215 immunology, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6b8f59f39a944554765edfdbb60fc6a1Test
https://doi.org/10.1200/jco.2020.38.15_suppl.1534Test

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: V. Bourdon, Hélène Zattara, Testsuro Noguchi, Laurence Faivre, Valérie Bonadona, Paul Gesta, François Eisinger, L. Huiart, Marc Frenay, Hagay Sobol, Liliane Demange, Zohra Soua, R. El Abed, Hélène Dreyfus, Catherine Dugast, Abderrahim Khelif, R. Sauvan

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: Familial Cancer
Familial Cancer, 2009, 8, pp.581-4. ⟨10.1007/s10689-009-9289-x⟩

مصطلحات موضوعية: Adult, Cancer Research, Myeloid, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Molecular Sequence Data, Polymerase Chain Reaction, Germline, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Germline mutation, hemic and lymphatic diseases, CEBPA, Genetics, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Genetics (clinical), Germ-Line Mutation, 030304 developmental biology, 0303 health sciences, business.industry, Myelodysplastic syndromes, Myeloid leukemia, Family aggregation, Middle Aged, medicine.disease, 3. Good health, medicine.anatomical_structure, Oncology, RUNX1, chemistry, 030220 oncology & carcinogenesis, Hematologic Neoplasms, Cancer research, CCAAT-Enhancer-Binding Proteins, business, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66e07666db14718f7ebdebe9f3548063Test
https://pubmed.ncbi.nlm.nih.gov/19731081Test

المؤلفون: Pascaline Berthet, Dominique Stoppa-Lyonnet, Julie Tinat, Thierry Frebourg, Stéphanie Vasseur, Catherine Bonaïti-Pellié, Cosette Martin, Olivier Caron, Emilie Bouvignies, Gaëlle Bougeard, Brigitte Bressac-de Paillerets, Stéphanie Baert-Desurmont, Catherine Dugast

المساهمون: Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, Laboratoire de Diagnostic Moléculaire, Département de Biologie Clinique, Institut Gustave Roussy (IGR), Laboratoire de biologie clinique et oncologique, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Consultation d'Oncogénétique, CHU, Rennes

المصدر: Journal of Clinical Oncology
Journal of Clinical Oncology, American Society of Clinical Oncology, 2009, 27 (26), pp.e108-e109. ⟨10.1200/JCO.2009.22.7967⟩

مصطلحات موضوعية: Genetics, 0303 health sciences, Cancer Research, MESH: Humans, MESH: Mutation, business.industry, medicine.disease, MESH: Sensitivity and Specificity, Germline, 03 medical and health sciences, 0302 clinical medicine, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Oncology, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Medicine, Mutation detection, MESH: Li-Fraumeni Syndrome, MESH: Tumor Suppressor Protein p53, business, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72aa5bff2c55f788f1a7efa60f12a51dTest
https://doi.org/10.1200/jco.2009.22.7967Test

المؤلفون: Thierry Frebourg, Olivier Caron, Claire Guillemeau, Emmanuelle Bourbouloux, Catherine Noguès, Emmanuelle Barouk-Simonet, Christine Maugard, Marion Gauthier-Villars, Catherine Dugast, Valérie Bonadona, Sandra Canale, Julie Tinat, Patrick R. Benusiglio, François Eisinger, Laurence Brugières, Véronique Mari

المصدر: Journal of Clinical Oncology. 31:TPS1607-TPS1607

مصطلحات موضوعية: Cancer Research, business.industry, Whole body mri, Cancer, Early detection, medicine.disease, Tp53 mutation, Germline, Germline mutation, Oncology, Li–Fraumeni syndrome, Cancer research, medicine, Sarcoma, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::765702637e0e2454a14d863d8cfbb870Test
https://doi.org/10.1200/jco.2013.31.15_suppl.tps1607Test

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