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1دورية أكاديمية
المؤلفون: Olatz Villate, Nekane Ibarluzea, Hiart Maortua, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada
المصدر: Frontiers in Molecular Biosciences, Vol 7 (2020)
مصطلحات موضوعية: FMR1 gene, fragile X syndrome, CGG repeats, AGG interruptions, premutation, genetic counseling, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sergio Aguilera-Albesa, Ana Belén de la Hoz, Nekane Ibarluzea, Andrés R. Ordóñez-Castillo, Olivia Busto-Crespo, Olatz Villate, María Asunción Ibiricu-Yanguas, María E. Yoldi-Petri, Iñaki García de Gurtubay, Guiomar Perez de Nanclares, Arrate Pereda, María Isabel Tejada
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: intellectual disability, hereditary spastic paraplegia, SPG 31, copy number variants, dual genetic etiology, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: María Isabel Tejada, Olatz Villate, Nekane Ibarluzea, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J. Friez, Beatriz Sobrino, Francisco Barros
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: UPF3B, next generation sequencing, intellectual disability, non-syndromic X linked intellectual disability, autism spectrum disorder, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Nekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, Isabel Llano, Intzane Ocio, Itxaso Martí, Miriam Guitart, Elisabeth Gabau, Fernando Andrade, Blanca Gener, María-Isabel Tejada
المصدر: Genes, Vol 11, Iss 1, p 51 (2020)
مصطلحات موضوعية: x-linked intellectual disability, next-generation sequencing, gene panel, huwe1, iqsec2, med12, phf8, slc6a8, slc9a6, syn1, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Jennifer Munkley, Teresa M. Maia, Nekane Ibarluzea, Karen E. Livermore, Daniel Vodak, Ingrid Ehrmann, Katherine James, Prabhakar Rajan, Nuno L. Barbosa-Morais, David J. Elliott
المصدر: F1000Research, Vol 7 (2018)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada
المصدر: Frontiers in Genetics, Vol 9 (2018)
مصطلحات موضوعية: CHD7, next generation sequencing, alternative splicing, minigene, CHARGE syndrome, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Sonia Merino, Nekane Ibarluzea, Hiart Maortua, Begoña Prieto, Idoia Rouco, Maria-Asunción López-Aríztegui, Maria-Isabel Tejada
المصدر: Genes, Vol 7, Iss 10, p 90 (2016)
مصطلحات موضوعية: fragile X, FMR1premutation, FXTAS, FXPOI, hypothyroidism, Genetics, QH426-470
وصف الملف: electronic resource
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8
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, 135-143مصطلحات 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
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9
المؤلفون: Nekane Ibarluzea, Maria-Isabel Tejada
المصدر: Clinical Genetics. 97:677-687
مصطلحات موضوعية: 0301 basic medicine, X-linked intellectual disability, Computational biology, 030105 genetics & heredity, Biology, Fragile X Mental Retardation Protein, 03 medical and health sciences, Genes, X-Linked, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Functional studies, Genetics (clinical), Comparative Genomic Hybridization, Mechanism (biology), High-Throughput Nucleotide Sequencing, Genetic Diseases, X-Linked, medicine.disease, Pedigree, Fragile X syndrome, 030104 developmental biology, Fragile X Syndrome, Mutation, Mental Retardation, X-Linked, Non syndromic, Gene Discovery, Comparative genomic hybridization
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10
المؤلفون: Nekane Ibarluzea, Maria-Isabel Tejada
مصطلحات موضوعية: X-linked intellectual disability, medicine, Functional studies, medicine.disease, Psychology, Non syndromic, Clinical psychology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2d5d9ea0904d80e0c508dbf2a5833f92
https://doi.org/10.1111/cge.13698/v2/response1