المؤلفون: Alain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, Stéphane Pinson, Abderrazzaq Bentaher, Serge Lebecque, Harriet Corvol, Rola Abou Taam, Véronique Houdouin, Claire Bardel, Pascal Roy, Gilles Devouassoux, Vincent Cottin, Pascal Seve, Jean-François Bernaudin, Clarice X. Lim, Thomas Weichhart, Dominique Valeyre, Yves Pacheco, Annick Clement, Nadia Nathan, in the frame of GSF (Groupe Sarcoïdose France)

المصدر: BMC Medical Genomics, Vol 11, Iss 1, Pp 1-19 (2018)

مصطلحات موضوعية: Sarcoidosis, Whole-exome sequencing (WES), Candidate genes, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12920-018-0338-xTest; https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/4056fb49f80d4471b504aa3aa69fdf58Test

المؤلفون: Laura El-Nachef, Joelle Al-Choboq, Juliette Restier-Verlet, Adeline Granzotto, Elise Berthel, Laurène Sonzogni, Mélanie L. Ferlazzo, Audrey Bouchet, Pierre Leblond, Patrick Combemale, Stéphane Pinson, Michel Bourguignon, Nicolas Foray

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 13, p 7158 (2021)

مصطلحات موضوعية: radiosensitivity, radiosusceptibility, radiodegeneration, ATM, ionizing radiation, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/22/13/7158Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/a88bc0fa957d4679bea343b846fa6146Test

المؤلفون: Louise Vølund Larsen, Delphine Mirebeau-Prunier, Tsuneo Imai, Cristina Alvarez-Escola, Kornelia Hasse-Lazar, Simona Censi, Luciana A Castroneves, Akihiro Sakurai, Minoru Kihara, Kiyomi Horiuchi, Véronique Dorine Barbu, Francoise Borson-Chazot, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Stephane Pinson, Nelson Wohllk, Charis Eng, Berna Imge Aydogan, Dhananjaya Saranath, Sarka Dvorakova, Frederic Castinetti, Attila Patocs, Damijan Bergant, Thera P Links, Mariola Peczkowska, Ana O Hoff, Caterina Mian, Trisha Dwight, Barbara Jarzab, Hartmut P H Neumann, Mercedes Robledo, Shinya Uchino, Anne Barlier, Christian Godballe, Jes Sloth Mathiesen

المصدر: Endocrine Connections, Vol 9, Iss 6, Pp 489-497 (2020)

مصطلحات موضوعية: primary hyperparathyroidism, multiple endocrine neoplasia type 2a, ret, medullary thyroid carcinoma, pheochromocytoma, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

العلاقة: https://ec.bioscientifica.com/view/journals/ec/9/6/EC-20-0163.xmlTest; https://doaj.org/toc/2049-3614Test; https://doi.org/10.1530/EC-20-0163Test; https://doaj.org/article/fce9b24b992c46119c9143129797252cTest

الإتاحة: https://doi.org/10.1530/EC-20-0163Test
https://doaj.org/article/fce9b24b992c46119c9143129797252cTest

المؤلفون: Julie Leclerc, Marie Beaumont, Roseline Vibert, Stéphane Pinson, Catherine Vermaut, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Christophe Demay, Florence Coulet, Erell Guillerm, Nadim Hamzaoui, Patrick R. Benusiglio, Afane Brahimi, François Cornelis, Hélène Delhomelle, Sandra Fert‐Ferrer, Benjamin P. J. Fournier, Alain Hovnanian, Clémentine Legrand, Alain Lortholary, David Malka, Florence Petit, Jean‐Christophe Saurin, Sophie Lejeune, Chrystelle Colas, Marie‐Pierre Buisine

المساهمون: Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Physiopathologie orale moléculaire = Molecular Oral Pathophysiology [CRC], Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université Paris Cité (UPCité), Genetic skin diseases : from disease mechanism to therapies (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 (CANTHER), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Genes, Chromosomes & Cancer
Genes, Chromosomes & Cancer, 2023, 62 (4), pp.210-222. ⟨10.1002/gcc.23112⟩

مصطلحات موضوعية: Wnt signaling pathway, Cancer Research, colorectal cancer susceptibility, [SDV]Life Sciences [q-bio], Genetics, oligodontia, adenomatous polyposis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a737319efb04310124b8b93250e870f1Test
https://pubmed.ncbi.nlm.nih.gov/36502525Test

المؤلفون: Patrick Combemale, Zuzana Bencokova, Clément Devic, Stéphane Pinson, Larry Bodgi, Jacques Balosso, Nicolas Foray, Jean-Thomas Bachelet, Mélanie L. Ferlazzo, Michel Bourguignon, Mona Amini-Adle, Steven Franck Burlet, Adeline Granzotto, Joëlle Al-Choboq, Laurène Sonzogni

المصدر: Molecular Neurobiology. 59:556-573

مصطلحات موضوعية: Genome instability, Neurofibromatosis type I, congenital, hereditary, and neonatal diseases and abnormalities, biology, Chemistry, medicine.medical_treatment, Neuroscience (miscellaneous), medicine.disease, Neurofibromin 1, nervous system diseases, Ionizing radiation, Radiation therapy, Cellular and Molecular Neuroscience, Histone, Neurology, biology.protein, medicine, Cancer research, Radiosensitivity, Neurofibromatosis, neoplasms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::69b37b0289dc91c5d007bab97bcde007Test
https://doi.org/10.1007/s12035-021-02615-3Test

المؤلفون: Stéphane Pinson, Juliette Restier-Verlet, Audrey Bouchet, Nicolas Foray, Joëlle Al-Choboq, Pierre Leblond, Mélanie L. Ferlazzo, Patrick Combemale, Laurène Sonzogni, Laura El-Nachef, Elise Berthel, Adeline Granzotto, Michel Bourguignon

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 7158, p 7158 (2021)

مصطلحات موضوعية: 0301 basic medicine, Programmed cell death, Neoplasms, Radiation-Induced, radiosusceptibility, DNA damage, QH301-705.5, medicine.medical_treatment, radiodegeneration, Review, Biology, Genome, Radiation Tolerance, Catalysis, Inorganic Chemistry, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Viability assay, Radiosensitivity, Physical and Theoretical Chemistry, Biology (General), Molecular Biology, QD1-999, Spectroscopy, Organic Chemistry, Cancer, General Medicine, medicine.disease, Computer Science Applications, Radiation therapy, Chemistry, 030104 developmental biology, radiosensitivity, 030220 oncology & carcinogenesis, Molecular Response, ATM, Cancer research, Disease Susceptibility, ionizing radiation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::655e2a9a55f8a16ad1797d8d7e25391fTest
http://europepmc.org/articles/PMC8267933Test

المؤلفون: Mehdi Brahmi, Philippe Thiesse, Dominique Ranchere, Thomas Mognetti, Stephane Pinson, Caroline Renard, Anne-Valérie Decouvelaere, Jean-Yves Blay, Patrick Combemale

المصدر: PLoS ONE, Vol 10, Iss 10, p e0138386 (2015)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC4596851?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/a1eeae9053524b4482a30035e19d4835Test

الإتاحة: https://doi.org/10.1371/journal.pone.0138386Test
https://doaj.org/article/a1eeae9053524b4482a30035e19d4835Test

المؤلفون: Patrick Combemale, Laurence Valeyrie-Allanore, Francesco Giammarile, Stephane Pinson, Bernard Guillot, Denis Mariano Goulart, Pierre Wolkenstein, Jean Yves Blay, Thomas Mognetti

المصدر: PLoS ONE, Vol 9, Iss 2, p e85954 (2014)

مصطلحات موضوعية: Medicine, Science

العلاقة: http://europepmc.org/articles/PMC3916322?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/22231ea6031e4d4f97bfd106d7a09b45Test

الإتاحة: https://doi.org/10.1371/journal.pone.0085954Test
https://doaj.org/article/22231ea6031e4d4f97bfd106d7a09b45Test

المؤلفون: Vincent Goussot, Véronica Cusin, Flavie Boulouard, Nancy Uhrhammer, Jacques Mauillon, Sophie Lejeune, Stéphanie Vasseur, Michel Bahuau, Stéphanie Baert-Desurmont, Emmanuelle Barouk Simonet, Lisa Golmard, Marion Dhooge, Camille Tlemsani, Sandrine Manase, Thierry Frebourg, Gwendoline Lienard, Marie-Pascale Beaumont, Edwige Kasper, Marie-Pierre Buisine, Gaëlle Bougeard, Virginie Bubien, Nadim Hamzaoui, Jean-Marc Rey, Stéphane Pinson, Florence Coulet, Claude Houdayer, Elodie Lacaze, Christine Toulas

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f572fec906a93582c2637fd3a21b1b10Test
https://doi.org/10.1111/cge.13925/v2/response1Test

المؤلفون: Thierry Frebourg, Gwendoline Lienard, Stéphanie Baert-Desurmont, Camille Tlemsani, Nadim Hamzaoui, Lisa Golmard, Michel Bahuau, Gaëlle Bougeard, Edwige Kasper, Vincent Goussot, Stéphane Pinson, Elodie Lacaze, Marie-Pascale Beaumont, Emmanuelle Barouk Simonet, Sandrine Manase, Christine Toulas, Sophie Lejeune, Nancy Uhrhammer, Flavie Boulouard, Jacques Mauillon, Véronica Cusin, Stéphanie Vasseur, Marion Dhooge, Marie-Pierre Buisine, Claude Houdayer, Virginie Bubien, Florence Coulet, Jean-Marc Rey

المصدر: Clinical geneticsREFERENCES. 99(5)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, Heterozygote, Colorectal cancer, Colonoscopy, Breast Neoplasms, 030105 genetics & heredity, 03 medical and health sciences, Deoxyribonuclease (Pyrimidine Dimer), Breast cancer, MUTYH, Neoplastic Syndromes, Hereditary, Internal medicine, Genetics, medicine, Biomarkers, Tumor, Humans, Basal cell carcinoma, Genetics (clinical), Germ-Line Mutation, Aged, Ovarian Neoplasms, medicine.diagnostic_test, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Melanoma, Cancer, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Adenomatous Polyposis Coli, Female, Sarcoma, business, Colorectal Neoplasms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::955dcc3e9efb93f91efa2ff0000996b5Test
https://pubmed.ncbi.nlm.nih.gov/33454955Test