المؤلفون: Sandra Whalen, Juliette Dupont, Sandrine Vuillaumier-Barrot, Chloe Hanna, Gorjana Robevska, Phillipa J. Lamont, Lurdes Sampaio, John Christodoulou, Rocio Rius, Elena J. Tucker, André Travessa, Jocelyn van den Bergen, Andrew H. Sinclair, Arnaud Isapof, Katrina M. Bell, Andrea Simpson, Jérôme Dulon, Sylvie Jaillard, Tanya Stojkovic, Susana Quijano-Roy, David R. Thorburn, Katie L. Ayers, Philippe Touraine

المساهمون: Murdoch Children's Research Institute (MCRI), University of Melbourne, CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Filière Neuromusculaire (FILNEMUS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), National Health and Medical Research Council (NHMRC)National Health and Medical Research Council of Australia [1113531], NHMRCNational Health and Medical Research Council of Australia [1074258, 1054432, 1062854, 1155244], CONACYTConsejo Nacional de Ciencia y Tecnologia (CONACyT), Victorian Government's Operational Infrastructure Support Program, Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: Human Genetics
Human Genetics, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩
Human Genetics, Springer Verlag, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Mitochondrial translation, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], Gene Expression, Biology, DNA, Mitochondrial, Amino Acyl-tRNA Synthetases, Mitochondrial Proteins, 03 medical and health sciences, Peroxisomal disorder, Genetics, medicine, Peroxisomes, Farnesyltranstransferase, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, 030305 genetics & heredity, Ovary, High-Throughput Nucleotide Sequencing, Geranyltranstransferase, Endopeptidase Clp, TFAM, medicine.disease, Dimethylallyltranstransferase, Human genetics, Premature ovarian failure, Gonadal Dysgenesis, 46,XX, Pedigree, DNA-Binding Proteins, Protein prenylation, ATPases Associated with Diverse Cellular Activities, Female, PEX6, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24b1eaa8ecc2ffcfe237546d81b48c2Test
https://univ-rennes.hal.science/hal-02796991Test

المؤلفون: Josephine Wincent, Elena Dominguez Garrido, Adam Shaw, Benjamin D. Solomon, Julien Van Gils, Catherine Vincent-Delorme, Christine M. Armour, Katherine Lachlan, Agnieszka Stembalska, Alexandra Afenjar, Dragana Josifova, Patricia Fergelot, Oliver Bartsch, Tiffany Busa, Benoit Arveiler, Samuel Gebre-Medhin, Amaia Sojo, Paulien A. Terhal, Willie Reardon, Jukka S. Moilanen, Lidia Larizza, Saskia M. Maas, S. Thomas, Cristina Gervasini, Dorien J.M. Peters, Lex Beets, Nathalie Dorison, Robert Smigiel, Martine J. van Belzen, Constance T. R. M. Stumpel, Juliette Dupont, Raoul C.M. Hennekam, Julie Deforges, Philippe Parent, Didier Lacombe, Ann Nordgren, Lydie Burglen, Alain Verloes, Bruno Maranda, Marion Gérard, Joelle Roume, Marie Collet, Blanca Gener Querol, Renaud Touraine, Marlène Rio, Christine Francannet, Alice Goldenberg, Elisabeth Gabau Vila, Sixto García-Miñaur, David Geneviève, Bert B.A. de Vries, Francisco Suarez, Julia Rankin

المساهمون: ANS - Complex Trait Genetics, Human Genetics, APH - Amsterdam Public Health, Paediatric Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Genetica & Celbiologie, Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de génétique médicale [Hôpital de la Timone - APHM], Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Jérôme Lejeune, CHU Clermont-Ferrand, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique [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 [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHRU de Brest - Département de Pédiatrie (CHU BREST Pédiatrie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHI Poissy-Saint-Germain, CHU Saint-Etienne, AP-HP Hôpital universitaire Robert-Debré [Paris], Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)

المصدر: American journal of medical genetics. Part A, 170(12), 3069-3082. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 3069-3082
American Journal of Medical Genetics Part A, 170(12), 3069-3082. Wiley
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (12), pp.3069-3082. ⟨10.1002/ajmg.a.37940⟩
American Journal of Medical Genetics Part A, 170(12), 3069-3082
American Journal of Medical Genetics Part A, 2016, 170 (12), pp.3069-3082. ⟨10.1002/ajmg.a.37940⟩
American Journal of Medical Genetics. Part A, 170(2), 3069–3082. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 170, 12, pp. 3069-3082

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Microcephaly, pre-eclampsia, Genotype, phenotype, genotype, Mutation, Missense, Biology, medicine.disease_cause, Bioinformatics, 03 medical and health sciences, Pregnancy, medicine, Genetics, Journal Article, Humans, Missense mutation, Genetic Predisposition to Disease, Genetics(clinical), EP300, Genetic Association Studies, Genetics (clinical), Rubinstein-Taybi syndrome, Sequence Deletion, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Rubinstein–Taybi syndrome, Middle Aged, Chromatin Assembly and Disassembly, medicine.disease, CREB-Binding Protein, Phenotype, Developmental disorder, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Female, E1A-Associated p300 Protein, Pre-eclampsia

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af369f31b9af763ef2d159d840ca4583Test
https://pure.amc.nl/en/publications/phenotype-and-genotype-in-52-patients-with-rubinsteintaybi-syndrome-caused-by-ep300-mutationsTest(8425e627-d92b-4cb6-a6a8-e5b3d907507e).html

المؤلفون: Nicole de Leeuw, Simone P A van den Heuvel, Alyson Bradbury, Arjan P.M. de Brouwer, Michael Parker, Leo P. ten Kate, Bert B.A. de Vries, Lisenka E.L.M. Vissers, Juliette Dupont, David A. Koolen, Willy M. Nillesen, James Steer

المساهمون: Human genetics, EMGO - Quality of care

المصدر: European Journal of Human Genetics, 20, 729-33
European Journal of Human Genetics, 20(7), 729-733. Nature Publishing Group
Koolen, D A, Dupont, J, de Leeuw, N, Vissers, L E L M, van den Heuvel, S P A, Bradbury, A, Steer, J, de Brouwer, A P M, ten Kate, L P, Nillesen, W M, de Vries, B B A & Parker, M J 2012, ' Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism ', European Journal of Human Genetics, vol. 20, no. 7, pp. 729-733 . https://doi.org/10.1038/ejhg.2012.1Test
European Journal of Human Genetics, 20, 7, pp. 729-33

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Monosomy, Adolescent, Genetic counseling, Buccal swab, Germline mosaicism, Biology, Article, Congenital Abnormalities, Risk Factors, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Lymphocytes, Sibling, Child, Homologous Recombination, Interphase, Genetics (clinical), In Situ Hybridization, Fluorescence, Metaphase, Genetic testing, Cell Nucleus, medicine.diagnostic_test, Mosaicism, Infant, Syndrome, Microdeletion syndrome, medicine.disease, 17q21.31 microdeletion syndrome, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Pedigree, Haplotypes, Child, Preschool, Female, Chromosome Deletion, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 17

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::453d9bae3d8d594e4bb95023fa6a4d56Test
https://pubmed.ncbi.nlm.nih.gov/22293690Test