المؤلفون: Anne-Sophie Riteau, Mikael Tassin, Guillemette Chambon, Claudine Le Vaillant, Jocelyne de Laveaucoupet, Marie-Pierre Quéré, Madeleine Joubert, Sophie Prevot, Henri-Jean Philippe, Alexandra Benachi

المصدر: PLoS ONE, Vol 9, Iss 4, p e94866 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC3986371?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/8c2c60428629475c840e1e8ca83cff28Test

المؤلفون: Leïla, Ghesh, Julie, Désir, Damien, Haye, Pauline Le, Tanno, Françoise, Devillard, Benjamin, Cogné, Martina, Marangoni, Laura, Tecco, Delphine, Heron, Claudine, Le Vaillant, Madeleine, Joubert, Claire, Beneteau

المصدر: Clinical Genetics. 103:560-565

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e417dd603f4817e1abc77932e574465Test
https://doi.org/10.1111/cge.14274Test

المؤلفون: Leïla, Ghesh, Thomas, Besnard, Madeleine, Joubert, Véronique, Picard, Claudine, Le Vaillant, Claire, Beneteau

المصدر: Clinical Genetics. 102:543-547

مصطلحات موضوعية: Pregnancy, Hydrops Fetalis, Genetics, Humans, Edema, Female, Channelopathies, Anemia, Hemolytic, Congenital, Ion Channels, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c966394b692ff6c4884d905c5e5570bdTest
https://doi.org/10.1111/cge.14217Test

المؤلفون: Amy Hardcastle, Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E. Gerard, Jill A. Rosenfeld, Saumya D. Sisoudiya, Andres Hernandez‐Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria L. Dentici, Rossella Capolino, Maria C. Digilio, Ludovico Graziani, Cecilie F. Rustad, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J. McMullan, John Dean, Maria G. Giuffrida, Laura Bernardini, Vinod Varghese, Nora L. Shannon, Rachel E. Harrison, Wayne W. K. Lam, Shane McKee, Peter D. Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C. Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A. Shaw, Wendy K. Chung, Daryl A. Scott

المصدر: American Journal of Medical Genetics Part A. 188:2958-2968

مصطلحات موضوعية: DNA Copy Number Variations, Diaphragm, USP9X, CREBBP, DECIPHER database, SMARCA4, UBA2, congenital diaphragmatic hernia, Mice, Genetics, Animals, Hernias, Diaphragmatic, Congenital, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff6c6c10bf462c0911cb2f912bb59f1Test
https://doi.org/10.1002/ajmg.a.62919Test

المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade

المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development

المصدر: Nature genetics. Nature Publishing Group

مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985Test
https://doi.org/10.1038/s41588-022-01120-0Test

المؤلفون: Minh-Tuan Huynh, Stéphane Bézieau, Madeleine Joubert, Leila Ghesh, Gerard Marion, Claire Beneteau, Khalid Alfallaj, Olivier Pichon, Kara Ranguin

المصدر: neurogenetics. 22:195-206

مصطلحات موضوعية: 0301 basic medicine, Ectodermal dysplasia, Candidate gene, Microcephaly, Genotype, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, 03 medical and health sciences, Cellular and Molecular Neuroscience, Endocrinology, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Molecular Biology, Genetics (clinical), Problem Behavior, Comparative Genomic Hybridization, medicine.diagnostic_test, Genomics, Microdeletion syndrome, medicine.disease, Penetrance, Human genetics, Phenotype, 030104 developmental biology, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, 030217 neurology & neurosurgery, Fluorescence in situ hybridization, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6890592cd16c328606abafb9c107b343Test
https://doi.org/10.1007/s10048-021-00653-6Test

المؤلفون: Cong Toai Tran, Madeleine Joubert, Minh-Tuan Huynh, Claire Beneteau

المصدر: Cytogenetic and Genome Research. 161:445-448

مصطلحات موضوعية: Genetics, Biology, Gene deletion, medicine.disease, Phenotype, Hypotonia, Exon, Underlying disease, Intellectual disability, medicine, medicine.symptom, Haploinsufficiency, Molecular Biology, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d3086de9119357c81228c2594375874bTest
https://doi.org/10.1159/000518689Test

المؤلفون: Frédéric Bilan, Antonio Pizzuti, Madeleine Joubert, Claire Beneteau, Brigitte Gilbert-Dussardier, Laura Bernardini, Matthieu Egloff, Tanguy Niclass, Gwenaël Le Guyader, Maria Grazia Giuffrida

المصدر: American Journal of Medical Genetics Part A. 182:2133-2138

مصطلحات موضوعية: 0301 basic medicine, business.industry, Horseshoe kidney, Anatomy, 030105 genetics & heredity, Microdeletion syndrome, medicine.disease, Hydrocephalus, 03 medical and health sciences, 030104 developmental biology, Pectus excavatum, Genetics, Medicine, Syndactyly, Hypertelorism, medicine.symptom, business, Genetics (clinical), Ventriculomegaly, Low-set ears

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f30889c6770c04430f8c12c635fc5cb9Test
https://doi.org/10.1002/ajmg.a.61734Test

المؤلفون: Marianne Begorre, Daniel Cailliez, Claire Beneteau, Pierre Chenal, Thierry Frebourg, Guillaume Benoist, François Lecoquierre, Raphaele Mangione, Florence Petit, Nicolas Gruchy, Louise Devisme, Sophie Patrier, Juliette Coursimault, Fanny Pelluard, Hubert Journel, Bénédicte Gérard, Marion Gérard, Pascale Saugier-Veber, Valérie Layet, Alain Liquier, Corinne Jeanne, Mirjam M. de Jong, Nadia Tillouche, Anne Bazin, Gaël Nicolas, Conny M. A. van Ravenswaaij-Arts, Anne-Claire Brehin, Wilfrid Finck, Sophie Coutant, Sophie Degre, Christine Francannet, Madeleine Joubert, Hélène Laurichesse Delmas

المساهمون: 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), Laboratoire CERBA [Saint Ouen l'Aumône], Service d'Anatomie Pathologique [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Université de Lausanne = University of Lausanne (UNIL), Service de Gynécologie-Obstétrique et Médecine de la Reproduction [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Groupe Hospitalier du Havre, University of Groningen [Groningen], Institut de Pathologie [CHU Lille], Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Clermont-Ferrand, Service d'hématologie et immunologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Unité de Cytogénétique et Génétique Médicale, Groupe Hospitalier du Havre-Hôpital Gustave Flaubert, Service d'Anatomie et Cytologie Pathologique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire d'anatomie pathologique, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Institut méditerranéen de biodiversité et d'écologie marine et continentale (IMBE), Avignon Université (AU)-Aix Marseille Université (AMU)-Institut de recherche pour le développement [IRD] : UMR237-Centre National de la Recherche Scientifique (CNRS), Laboratoire de cytogénétique prénatale [CHU Caen], UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Service de Génétique [CHU Caen], Clinical Cognitive Neuropsychiatry Research Program (CCNP), Université de Lausanne (UNIL), Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: Human Mutation
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩

مصطلحات موضوعية: Male, Genotype, audal dysgenesis, Ectromelia, [SDV]Life Sciences [q-bio], REQUIREMENT, Malformation sequence, Biology, Sirenomelia, CAUDAL REGRESSION, Frameshift mutation, 03 medical and health sciences, Genetics, medicine, Humans, CDX2 Transcription Factor, Genetic Predisposition to Disease, CDX2, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Adaptor Proteins, Signal Transducing, 030304 developmental biology, 0303 health sciences, Calcium-Binding Proteins, 030305 genetics & heredity, Wnt signaling pathway, Heterozygote advantage, DEFECTS, medicine.disease, caudal dysgenesis, de novo mutation, Pedigree, Phenotype, Amino Acid Substitution, GROWTH, Female, CDX2 de novo mutation, exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4f4809cccfe22a8f8d876db3d7e0573Test
https://hdl.handle.net/11370/0ac3ca3a-6458-40da-92ae-b9d82ef21217Test

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