المؤلفون: Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer

المساهمون: Institut Català de la Salut, [Maia N, Marques I] Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magãlhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto) Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal. [Ibarluzea N] Biocruces Bizkaia Health Research Institute, Barakaldo, Spain. [Misra-Isrie M] Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. [Koboldt DC] Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA. [Soares G] Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhaes (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal. [Valenzuela I] Servei de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Human genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: American Journal of Medical Genetics. Part A, 191, 1, pp. 135-143
Scientia
American Journal of Medical Genetics, Part A, 191(1), 135-143. Wiley-Liss Inc.
Maia, N, Ibarluzea, N, Misra-Isrie, M, Koboldt, D C, Marques, I, Soares, G, Santos, R, Marcelis, C L M, Keski-Filppula, R, Guitart, M, Gabau Vila, E, Lehman, A, Hickey, S, Mori, M, Terhal, P, Valenzuela, I, Lasa-Aranzasti, A, Cueto-González, A M, Chhouk, B H, Yeh, R C, Neil, J E, Abu-Libde, B, Kleefstra, T, Elting, M W, Császár, A, Kárteszi, J, Bessenyei, B, van Bokhoven, H, Jorge, P, van Hagen, J M & de Brouwer, A P M 2023, ' Missense MED12 variants in 22 males with intellectual disability : From nonspecific symptoms to complete syndromes ', American Journal of Medical Genetics, Part A, vol. 191, no. 1, pp. 135-143 . https://doi.org/10.1002/ajmg.a.63004
American Journal of Medical Genetics. Part A, 191, 135-143

مصطلحات موضوعية: Discapacitat intel·lectual - Aspectes genètics, Anomalies cromosòmiques, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS], Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e786f2ecd8803b730a91f04d46d55226

المؤلفون: Anna Ruiz Nel Lo, Lorenzo Monserrat, Juan Pablo Trujillo-Quintero, José María Larrañaga Moreira, Roberto Barriales-Villa, Elisabeth Gabau Vila

المصدر: Revista Española de Cardiología. 74:551-553

مصطلحات موضوعية: business.industry, Medicine, Cardiology and Cardiovascular Medicine, business, Humanities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5fee39415d7e5497fd20cf8aba7a927d
https://doi.org/10.1016/j.recesp.2020.11.010

المؤلفون: Elisabeth Gabau Vila, Juan Pablo Trujillo-Quintero, Lorenzo Monserrat, José María Larrañaga Moreira, Roberto Barriales-Villa, Anna Ruiz Nel Lo

المصدر: Revista Española de Cardiología (English Edition). 74:551-553

مصطلحات موضوعية: Aortic dilatation, medicine.medical_specialty, business.industry, medicine, Shprintzen–Goldberg syndrome, General Medicine, medicine.disease, business, Surgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b334d68a85aba18d28d54493c4fb86d6
https://doi.org/10.1016/j.rec.2020.11.006

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af369f31b9af763ef2d159d840ca4583
https://pure.amc.nl/en/publications/phenotype-and-genotype-in-52-patients-with-rubinsteintaybi-syndrome-caused-by-ep300-mutations(8425e627-d92b-4cb6-a6a8-e5b3d907507e).html

المؤلفون: Josep, Artigas-Pallarés, Miriam, Guitart, Elisabeth, Gabau-Vila

المصدر: Revista de neurologia. 56

مصطلحات موضوعية: Epigenomics, Developmental Disabilities, Brain, Humans, Genetic Testing, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::41083ad18db37360741ec4e1684fea3d
https://pubmed.ncbi.nlm.nih.gov/23446721