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61دورية أكاديمية
المؤلفون: Mengmeng Du, Shuo Jiao, Stephanie A Bien, Manish Gala, Goncalo Abecasis, Stephane Bezieau, Hermann Brenner, Katja Butterbach, Bette J Caan, Christopher S Carlson, Graham Casey, Jenny Chang-Claude, David V Conti, Keith R Curtis, David Duggan, Steven Gallinger, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Mark A Jenkins, Sébastien Küry, Loic Le Marchand, Suzanne M Leal, Polly A Newcomb, Deborah A Nickerson, John D Potter, Robert E Schoen, Fredrick R Schumacher, Daniela Seminara, Martha L Slattery, Li Hsu, Andrew T Chan, Emily White, Sonja I Berndt, Ulrike Peters
المصدر: PLoS ONE, Vol 11, Iss 7, p e0157521 (2016)
العلاقة: http://europepmc.org/articles/PMC4933364?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/f07d22c53e704733b34d5a12a9ca49fbTest
الإتاحة: https://doi.org/10.1371/journal.pone.0157521Test
https://doaj.org/article/f07d22c53e704733b34d5a12a9ca49fbTest -
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المؤلفون: G. Vignon, Stéphane Bézieau, F. Airaud, A. Bonnin, F. Lellouche, P. Mottaz, C. Garrec, François Girodon, J. Labrousse, B. Gardie
المصدر: La Revue de Médecine Interne. 41:196-199
مصطلحات موضوعية: 0301 basic medicine, Gynecology, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, 0302 clinical medicine, business.industry, Gastroenterology, Internal Medicine, Medicine, Hereditary Erythrocytosis, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::54dccdc01a62e2a3af1dcb59bc9bf216Test
https://doi.org/10.1016/j.revmed.2019.12.019Test -
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المؤلفون: Alicja Wolk, Edward Giovannucci, Li Li, Polly A. Newcomb, Kenneth Offit, Clemens Schafmayer, Vicente Martín, Sergi Castellví-Bel, Daniel D. Buchanan, Mingyang Song, Qianchuan He, Martha L. Slattery, Volker Arndt, Anna H. Wu, Amit Joshi, David A. Drew, D. Timothy Bishop, Annika Lindblom, Temitope O. Keku, Jochen Hampe, Ozan Dikilitas, Douglas A. Corley, John B. Harley, Hakon Hakonarson, Steven Gallinger, Noralane M. Lindor, Ian B. Stanaway, Jeffrey K. Lee, Sonja I. Berndt, Veronika Vymetalkova, Syed H.E. Zaidi, Jessica Minnier, Daniel J. Schaid, Ludmila Vodickova, John D. Potter, Heather Hampel, Christopher I. Li, Frank D. Mentch, Wei-Qi Wei, Cornelia M. Ulrich, Marc J. Gunter, Robert E. Schoen, Catherine M. Tangen, Victor Moreno, Shuji Ogino, Tabitha A. Harrison, Albert de la Chapelle, Pavel Vodicka, Andrew T. Chan, Keith R. Curtis, Elisabeth A. Rosenthal, Jenny Chang-Claude, David C. Muller, Paul D.P. Pharoah, Roger L. Milne, David Duggan, Eric B. Larson, David R. Crosslin, Andrea Gsur, Stéphane Bézieau, Graham G. Giles, Robert J. MacInnis, Bahram Namjou, Christopher H. Dampier, Gail P. Jarvik, Andrea N. Burnett-Hartman, Richard B. Hayes, Fränzel J.B. Van Duijnhoven, Wendy K. Chung, Michael Hoffmeister, Mark A. Jenkins, Mathieu Lemire, Thomas J. Hudson, Elizabeth A. Platz, Neil Murphy, Graham Casey, Michael O. Woods, Aung Ko Win, Flora Qu, Li Hsu, Emily White, Peter T. Campbell, Lori C. Sakoda, Jane C. Figueiredo, Minta Thomas, Jeroen R. Huyghe, Bethany Van Guelpen, Kala Visvanathan, Loic Le Marchand, Corinne E. Joshu, Yu Ru Su, Ulrike Peters, Stephen B. Gruber, Demetrius Albanes, Stephen N. Thibodeau, Antoni Castells, Hermann Brenner
المصدر: Am J Hum Genet
American Journal of Human Genetics, 107(3), 432-444
American Journal of Human Genetics 107 (2020) 3مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Linkage disequilibrium, Nutrition and Disease, Population, Genome-wide association study, colorectal cancer, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Voeding en Ziekte, Genetics, Medicine, Family history, education, cancer risk prediction, Genetics (clinical), Genetic association, VLAG, education.field_of_study, business.industry, 030104 developmental biology, machine learning, 030220 oncology & carcinogenesis, Relative risk, Cohort, polygenic risk score, business, Risk assessment
وصف الملف: application/octet-stream; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0ada49e6716bbaab7fc105de753d0f4Test
https://doi.org/10.1016/j.ajhg.2020.07.006Test -
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المؤلفون: Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law, Minta Thomas, Stephanie Schmit, Virginia Díez-Obrero, Li Hsu, Juan Fernandez-Tajes, Claire Palles, Kitty Sherwood, Sarah Briggs, Victoria Svinti, Kevin Donnelly, Susan Farrington, James Blackmur, Peter Vaughan-Shaw, Xiao-ou Shu, Jirong Long, Qiuyin Cai, Xingyi Guo, Yingchang Lu, Peter Broderick, James Studd, Jeroen Huyghe, Tabitha Harrison, David Conti, Christopher Dampier, Mathew Devall, Fredrick Schumacher, Marilena Melas, Gad Rennert, Mireia Obón-Santacana, Vicente Martín-Sánchez, Ferran Moratalla-Navarro, Jae Hwan Oh, Jeongseon Kim, Sun Ha Jee, Keum Ji Jung, Sun-Seog Kweon, Min-Ho Shin, Aesun Shin, Yoon-Ok Ahn, Dong-Hyun Kim, Isao Oze, Wanqing Wen, Keitaro Matsuo, Koichi Matsuda, Chizu Tanikawa, Zefang Ren, Yu-Tang Gao, Wei-Hua Jia, John Hopper, Mark Jenkins, Aung Ko Win, Rish Pai, Jane Figueiredo, Robert Haile, Steven Gallinger, Michael Woods, Polly Newcomb, David Duggan, Jeremy Cheadle, Richard Kaplan, Timothy Maughan, Rachel Kerr, David Kerr, Iva Kirac, Jan Böhm, Lukka-Pekka Mecklin, Pekka Jousilahti, Paul Knekt, Lauri Aaltonen, Harri Rissanen, Eero Pukkala, Johan Eriksson, Tatiana Cajuso, Ulrika Hänninen, Johanna Kondelin, Kimmo Palin, Tomas Tanskanen, Laura Renkonen-Sinisalo, Brent Zanke, Satu Männistö, Demetrius Albanes, Stephanie Weinstein, Edward Ruiz-Narvaez, Julie Palmer, Daniel Buchanan, Elizabeth Platz, Kala Visvanathan, Cornelia Ulrich, Erin Siegel, Stefanie Brezina, Andrea Gsur, Peter Campbell, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Martha Slattery, John Potter, Konstantinos Tsilidis, Matthias Schulze, Marc Gunter, Neil Murphy, Antoni Castells, Sergi Castellví-Bel, Leticia Moreira, Volker Arndt, Anna Shcherbina, Mariana Stern, Bens Pardamean, Timothy Bishop, Graham Giles, Melissa Southey, Gregory Idos, Kevin McDonnell, Zomoroda Abu-Ful, Joel Greenson, Katerina Shulman, Flavio Lejbkowicz, Kenneth Offit, Yu-Ru Su, Robert Steinfelder, Temitope Keku, Bethany van Guelpen, Thomas Hudson, Heather Hampel, Rachel Pearlman, Sonja Berndt, Richard Hayes, Marie Elena Martinez, Sushma Thomas, Douglas Corley, Paul Pharoah, Susanna Larsson, Yun Yen, Heinz-Josef Lenz, Emily White, Li Li, Kimberly Doheny, Elizabeth Pugh, Tameka Shelford, Andrew Chan, Marcia Cruz-Correa, Annika Lindblom, David Hunter, Amit Joshi, Clemens Schafmayer, Peter Scacheri, Anshul Kundaje, Deborah Nickerson, Robert Schoen, Jochen Hampe, Zsofia Stadler, Pavel Vodicka, Ludmila Vodickova, Veronika Vymetalkova, Nickolas Papadopoulos, Chistopher Edlund, William Gauderman, Duncan Thomas, David Shibata, Amanda Toland, Sanford Markowitz, Andre Kim, Stephen Chanock, Franzel van Duijnhoven, Edith Feskens, Lori Sakoda, Manuela Gago-Dominguez, Alicja Wolk, Alessio Naccarati, Barbara Pardini, Liesel FitzGerald, Soo Chin Lee, Shuji Ogino, Stephanie Bien, Charles Kooperberg, Christopher Li, Yi Lin, Ross Prentice, Conghui Qu, Stéphane Bézieau, Catherine Tangen, Elaine Mardis, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Christopher Haiman, Loic Le Marchand, Anna Wu, Chenxu Qu, Caroline McNeil, Gerhard Coetzee, Caroline Hayward, Ian Deary, Sarah Harris, Evropi Theodoratou, Stuart Reid, Marion Walker, Li Yin Ooi, Victor Moreno, Graham Casey, Stephen Gruber, Ian Tomlinson, Wei Zheng, Malcolm Dunlop, Richard Houlston, Ulrike Peters
المساهمون: Dr. Ceres Fernandez-Rozadilla
مصطلحات موضوعية: colorectal cancer, TWAS, MWAS, TisWAS
العلاقة: info:eu-repo/grantAgreement/EC/FP7/258236/; info:eu-repo/grantAgreement/EC/FP7/340560/; info:eu-repo/grantAgreement/EC/FP7/301077/; https://zenodo.org/record/6472285Test; https://doi.org/10.5281/zenodo.6472285Test; oai:zenodo.org:6472285
الإتاحة: https://doi.org/10.5281/zenodo.6472285Test
https://doi.org/10.1038/s41588-022-01222-9Test
https://doi.org/10.5281/zenodo.6472284Test
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المؤلفون: Francisca Millan, Mieke M. van Haelst, Ankita Patel, Cédric Le Caignec, Jean P. Pfotenhauer, Wendy E. Smith, Denise Horn, Klaske D. Lichtenbelt, Tanner Hagelstrom, David A. Dyment, Ryan J. Taft, Jill V. Hunter, Jolanta Wierzba, Margarita Saenz, Ian D. Krantz, Denise L. Perry, Luis F. Escobar, Bertrand Isidor, Ingrid Cristian, Richard E. Person, Aditi Chawla, Michael D. Fountain, Diane Masser-Frye, Sarah E. Raible, Koen L.I. van Gassen, Erin Torti, Weimin Bi, Philip J. Lupo, Jill A. Rosenfeld, Chumei Li, Claude Férec, Robert C. Pedersen, Megan E. Rech, Fan Xia, Sébastien Küry, Ilaria Parenti, Ingrid M. Wentzensen, Loren D M Pena, Jane Juusola, Manuel Holtgrewe, Frank J. Kaiser, John M. McCarthy, David S. Oleson, Arnold Munnich, Kévin Uguen, Thomas M. Morgan, Lara Segebrecht, Sung Hae L. Kang, Nadja Ehmke, Sunita Venkateswaran, Christian P. Schaaf, Marilyn C. Jones, Tim M. Strom, Rocio Moran, Stéphane Bézieau, Rebecca C. Spillmann
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Genetics in Medicine, 21(8), 1797. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1Test
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkinsمصطلحات موضوعية: speech delay, Autism Spectrum Disorder, Autism, Haploinsufficiency, Bioinformatics, Whole Exome Sequencing, white matter paucity, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, 2.1 Biological and endogenous factors, Genetics(clinical), Child, Genetics (clinical), Exome sequencing, Pediatric, Genetics & Heredity, 0303 health sciences, Genome, neurodevelopment, Nuclear Proteins, Phenotype, Hypotonia, ddc, 3. Good health, DNA-Binding Proteins, Mental Health, Autism spectrum disorder, Speech delay, Chromosome Deletion, medicine.symptom, Human, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Article, 03 medical and health sciences, Clinical Research, Usp7, Neurodevelopment, Speech Delay, White Matter Paucity, Corpus Callosum Thinning, Intellectual Disability, 030225 pediatrics, Behavioral and Social Science, Genetics, medicine, Humans, Language Development Disorders, Preschool, 030304 developmental biology, Problem Behavior, business.industry, corpus callosum thinning, Neurosciences, Proteins, Infant, Newborn, medicine.disease, Brain Disorders, Neurodevelopmental Disorders, USP7, Congenital Structural Anomalies, business
وصف الملف: application/pdf; text/plain; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11f31e0314c44e1f69c492869e6442bTest
https://doi.org/10.1038/s41436-019-0433-1Test -
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المؤلفون: Sandrine Théoleyre, Audrey Vallée, Guillaume Herbreteau, Fabrice Airaud, Hélène Blons, Stéphane Bézieau, Simon Garinet, Elise Pierre-Noël, Marc G. Denis
المصدر: Cancers
Volume 13
Issue 16
Cancers, Vol 13, Iss 4203, p 4203 (2021)مصطلحات موضوعية: Cancer Research, congenital, hereditary, and neonatal diseases and abnormalities, expectation-maximisation algorithm, Colorectal cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Positive control, Microsatellite instability, colorectal cancer, Biology, medicine.disease, deficient mismatch repair system, digestive system diseases, Article, Oncology, NGS, embryonic structures, medicine, Microsatellite, microsatellite instability, Pcr method, Algorithm, neoplasms, RC254-282, Kappa
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cdc9b419a8778b13de837589d0ba085Test
https://pubmed.ncbi.nlm.nih.gov/34439357Test -
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المؤلفون: Laurence Faivre, Natáliya Tkachenko, Celia Azevedo Soares, Annick Toutain, Marlène Rio, Anne Boland, Kendra Engleman, Eléonore Viora-Dupont, Kévin Uguen, Cédric Le Maréchal, Yang Cao, Sophie Rondeau, Kilannin Krysiak, Jean-François Deleuze, Caroline Benech, Frédéric Tran Mau-Them, Sylvie Odent, Jorge L. Granadillo, Dominique Bonneau, Claude Férec, Ibrahim Elsharkawi, Séverine Audebert-Bellanger, Julie Neidich, Stéphane Bézieau, Brigitte Gilbert-Dussardier, Elena Repnikova, Sylvia Redon, Shivarajan Manickavasagam Amudhavalli
المساهمون: Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universidade do Porto = University of Porto, Centro Hospitalar do Porto, Children's Mercy Hospital [Kansas City], Université Paris-Saclay, Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Centre de référence Maladies Rares CLAD-Ouest [Rennes], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidade do Porto, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Clinical Genetics
Clinical Genetics, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
Clinical Genetics, Wiley, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Microcephaly, Adolescent, DNA Copy Number Variations, Language delay, [SDV]Life Sciences [q-bio], Karyotype, Inheritance Patterns, chemical and pharmacologic phenomena, 030105 genetics & heredity, Biology, dysmorphic features, loss of function mutation, 03 medical and health sciences, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, HMGB1 Protein, Child, Gene, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Loss function, HMGB1, Facies, Exons, developmental disabilities, Microdeletion syndrome, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Female, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70d1bcd7711d96dc78962a4e36e16a58Test
https://hal.science/hal-03282329Test -
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المؤلفون: Odile Boute, Leila Ghesh, Nadia Elkhartoufi, Marie Denis Musquer, Lucile Boutaud, Anne-Sophie Riteau, Pascal Vaast, Norbert Winer, Claudine Le Vaillant, Claire Beneteau, Stéphane Bézieau, Sophie Thomas, Madeleine Joubert, Tania Attié-Bitach, Louise Devisme, Morgane Stichelbout
المصدر: Clinical geneticsREFERENCES. 100(4)
مصطلحات موضوعية: Heart Defects, Congenital, Genotype, media_common.quotation_subject, Nonsense, Hydrolethalus syndrome, Biology, Compound heterozygosity, Ultrasonography, Prenatal, Fetus, Pregnancy, Ciliogenesis, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Allele, Genetics (clinical), Alleles, Genetic Association Studies, media_common, Comparative Genomic Hybridization, Genetic Variation, Proteins, medicine.disease, Phenotype, Immunohistochemistry, Pedigree, Amino Acid Substitution, Female, Autopsy, Hand Deformities, Congenital, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1ceda7113f20e5f38d9a86e2308803aTest
https://pubmed.ncbi.nlm.nih.gov/34212369Test -
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المؤلفون: Marie-Noëlle Bonnet-Dupeyron, Helene Dreyfus, Nadia Boutry-Kryza, Cornel Popovici, Laurent Castera, Nancy Uhrhammer, Anthony Laugé, Yves-Jean Bignon, Hélène Delhomelle, Alice Fiévet, Christophe Guy, Noémie Bronnec, Bruno Buecher, Fabienne Prieur, Sophie Demontety, Vincent Goussot, Emmanuelle Mouret-Fourme, Claire Saule, Helene Zattara, Sarah Malsa, Paul Gesta, Cindy Meira, Erell Guillerm, Isabelle Turbiez, Agathe Ricou, Mélanie Léoné, Pierre Vande Perre, Sarab Lizard, Pascaline Berthet, Norbert Lignon, Adrien Buisson, Anne-Marie Birot, Philippe Denizeau, Etienne Rouleau, Odile Cohen-Haguenauer, Veronica Goldbarg, Virginie Moncoutier, Charlotte Benigni, Emmanuelle Barouk-Simonet, Flavie Boulouard, Caroline Jacquot-Sawka, Alice Yvard, Hakima Lallaoui, Veronica Cusin, Angélina Legros, Muriel Belotti, Christine Maugard, Marine Guillaud-Bataille, Jean-Marc Limacher, Marion Gauthier-Villars, Louise Crivelli, Afane Brahimi, Odile Cabaret, Ophelie Bertrand, Michel Longy, Gabrielle Le Guyadec, Doriane Livon, Amelie Bloucard, Dominique Stoppa-Lyonnet, Capucine Delnatte, Caroline Lecerf, Jennifer Carriere, Virginie Guibert, Véronique Mari, Anne-Sophie Allary, Florence Coulet, Françoise Bonnet, Paul Vilquin, Noémie Basset, Khadija Abidallah, Pierre Macquere, Nicolas Derive, Manon Boulaire, Stephanie Chieze-Valéro, Marine Le Mentec, Mathilde Gay-Bellile, Anne-Laure Conoy, Henri Margot, Pierre Devulder, Mathias Schwartz, Isabelle Tennevet, Stéphane Bézieau, Francesca Damiola, Violaine Bourdon, Audrey Mailliez, Zoe Nevière, Nicolas Viellard, Laurence Venat, Antoine De Pauw, Brigitte Bressac-de Paillerets, Agnès Hardouin, Sofiane Lacoste, Sandra Fert-Ferrer, Maud Privat, Helene Larbre, Dominique Vaur, Etienne Muller, Françoise Revillion, Clémentine Legrand, Rosette Lidereau, Laurence Gladieff, Sabine Raad, Jean Chiesa, Diane Molière, Ahmed Bouras, Nicolas Sevenet, Patrick R. Benusiglio, Sophie Giraud, Christine Toulas, Voreak Suybeng, Florine Oca, Tetsuro Noguchi, Catherine Dehainault, Sophie Lejeune, Céline Heude, Catherine Dubois d’Enghein, Thien-vu Nguyen Minh Tuan, Olivier Caron, Mathilde Warcoin, Christine Lasset, Claude Houdayer, Jessica Moretta-Serra, Julie Tinat, Hagay Sobol, Natalie Jones, Fanny Brayotel, Anne Fajac, Virginie Bubien, Maud Blanluet, Jean-Marc Rey, Anne Durlach, Sandrine M. Caputo, Isabelle Coupier, Fatoumata Simaga, Sophie Krieger, Catherine Noguès, Fabrice Airaud, Robin Fouillet, Celine Garrec, Valérie Bonadona, Julie Menjard, Bérengère Legendre, Chrystelle Colas, Christelle Berthemin, Camille Cohen, Caroline Abadie, Olivier Ingster, Audrey Remenieras, Anaïs Dupré, Jessica Le Gall, Lisa Golmard, Marie Bidart, Henrique Tenreiro, J Bombled, Marie-Charlotte Villy, Marie-Agnès Collonge-Rame, Sophie Dussart, Alain Lortholary, Lucie Salle, Samira Fekairi
المساهمون: Service de Génétique Oncologique, Institut Curie [Paris], Université Paris sciences et lettres (PSL), Département de Biologie des Tumeurs, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon (HCL), Centre Léon Bérard [Lyon], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Gustave Roussy (IGR), Génétique (Biologie pathologie), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Institut de biochimie et génétique cellulaires (IBGC), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre de Références Cancers Rares (PREDIR), INCA, Institut national du cancer [Boulogne] (INCA), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Institut de Cancérologie de l'Ouest [Angers/Nantes] (UNICANCER/ICO), Centre Hospitalier Universitaire de Reims (CHU Reims), dormoy, valerian, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
المصدر: Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩مصطلحات موضوعية: Cosegregation, Genotype, [SDV]Life Sciences [q-bio], Breast Neoplasms, Biology, Article, 03 medical and health sciences, Likely benign, Genetics, medicine, Humans, Clinical significance, Genetic Predisposition to Disease, Genetic Testing, Uncertain significance, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, BRCA2 Protein, Ovarian Neoplasms, 0303 health sciences, Cancer predisposition, BRCA1 Protein, 030305 genetics & heredity, Cancer, Genetic Variation, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Classification methods, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dafdf5194001f759e2968c0631e77f95Test
https://pubmed.ncbi.nlm.nih.gov/34597585Test -
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المؤلفون: Natáliya Tkachenko, Stéphane Bézieau, Shivarajan M. Amudhavalli, Sylvia Redon, Cédric Le Maréchal, Sylvie Odent, Claude Férec, Ibrahim Elsharkawi, Annick Toutain, Frédéric Tran Mau-Them, Julie Neidich, Brigitte Gilbert-Dussardier, Kilannin Krysiak, Jean-Francois Deleuze, Marlène Rio, Séverine Audebert-Bellanger, Sophie Rondeau, Celia Azevedo Soares, Caroline Benech, Dominique Bonneau, Eléonore Viora-Dupont, Kevin Uguen, Jorge L. Granadillo, Anne Boland, Yang Cao, Elena Repnikova, Laurence Faivre, Kendra Engleman
مصطلحات موضوعية: Genetics, Microcephaly, medicine, Biology, medicine.disease, Loss function
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::944addfcbd232ea8a810a02be2c9e8e2Test
https://doi.org/10.1111/cge.14015/v2/response1Test