المؤلفون: Lorraine Glennie, Marta Codina Solà, Mar Xunclà, Gloria Aparicio Español, Elena Garcia-Arumí, Eduardo Fidel Tizzano, Nicola T. Wood, Thomas J. Macartney, Amaia Lasa-Aranzasti, Gopal P. Sapkota

المصدر: Open Biology, Vol 14, Iss 7 (2024)

مصطلحات موضوعية: FAM83, palmoplantar keratoderma, hyperkeratosis, CK1, WNT, FAM83G, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2046-2441

URL الوصول: https://doaj.org/article/f83bbced95d14422844e09e4000c188d

المؤلفون: Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero

المصدر: Frontiers in Cell and Developmental Biology, Vol 12 (2024)

مصطلحات موضوعية: SYNGAP1, rare disease, interictal epileptiform discharges, diffuse fast activity, autism spectrum disorder, EEG, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2024.1321282/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/166caca1761d48df939f150c72881fb8

المؤلفون: Liselot van der Laan, Kathleen Rooney, Sadegheh Haghshenas, Ananília Silva, Haley McConkey, Raissa Relator, Michael A. Levy, Irene Valenzuela, Laura Trujillano, Amaia Lasa-Aranzasti, Berta Campos, Neus Castells, Eline A. Verberne, Saskia Maas, Mariëlle Alders, Marcel M. A. M. Mannens, Mieke M. van Haelst, Bekim Sadikovic, Peter Henneman

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 18, p 14240 (2023)

مصطلحات موضوعية: JARID2, CNV, DNA methylation, episignature, intellectual disability, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/24/18/14240; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/cf4651b452c4446c909f1c60cf569a81

المؤلفون: Ayala Tovy, Carina Rosas, Amos S. Gaikwad, Geraldo Medrano, Linda Zhang, Jaime M. Reyes, Yung-Hsin Huang, Tastuhiko Arakawa, Kristen Kurtz, Shannon E. Conneely, Anna G. Guzman, Rogelio Aguilar, Anne Gao, Chun-Wei Chen, Jean J. Kim, Melissa T. Carter, Amaia Lasa-Aranzasti, Irene Valenzuela, Lionel Van Maldergem, Lorenzo Brunetti, M. John Hicks, Andrea N. Marcogliese, Margaret A. Goodell, Rachel E. Rau

المصدر: Haematologica, Vol 107, Iss 4 (2021)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/10293; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/6079e5ab657743e3ae91733b02a811e1

المؤلفون: Júlia Sala-Coromina, Lucía Dougherty-de Miguel, Javier de las Heras, Amaia Lasa-Aranzasti, Elena Garcia-Arumi, Lidia Carreño, Jose Antonio Arranz, Clara Carnicer, María Unceta-Suárez, Angel Sanchez-Montañez, Laura Gort, Frederic Tort, Mireia del Toro

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100690- (2021)

مصطلحات موضوعية: TRMU, Acute liver failure, Leigh syndrome, Mitochondrial disease, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920301361; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/acea3658f5bd4727b3e310ec0b2b0b1b

المؤلفون: Marta Codina-Solà, Laura Trujillano, Anna Abulí, Eulàlia Rovira-Moreno, Patricia Muñoz-Cabello, Berta Campos, Paula Fernández-Álvarez, Dolors Palau, Estela Carrasco, Irene Valenzuela, Anna Maria. Cueto-González, Amaia Lasa-Aranzasti, Javier Limeres, Jordi Leno-Colorado, Mar Costa-Roger, Alejandro Moles-Fernández, Judith Balmaña, Orland Díez, Ivon Cuscó, Elena Garcia-Arumí, Eduardo Fidel Tizzano

المصدر: European Journal of Human Genetics. 31:223-230

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd06709fa3180f7d1f259fd866df2a46
https://doi.org/10.1038/s41431-022-01240-5

المؤلفون: Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto

المساهمون: Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Isis, Atallah, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria, General Paediatrics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Pediatrics

المصدر: Human molecular genetics, 31(24), 4131-4142. Oxford University Press
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167
Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::943e833f54562fc53803a9db42994e5b
https://doi.org/10.1093/hmg/ddac167

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: Yung-Hsin Huang, Jean J Kim, Linda Zhang, Anne Gao, Margaret A. Goodell, M. John Hicks, Geraldo Medrano, Kristen Kurtz, Jaime M. Reyes, Amaia Lasa-Aranzasti, Chun-Wei Chen, Amos Gaikwad, Lionel Van Maldergem, Anna Guzman, Shannon E Conneely, Carina Rosas, Rogelio Aguilar, Tastuhiko Arakawa, Lorenzo Brunetti, Rachel E. Rau, Ayala Tovy, Melissa T. Carter, Andrea N. Marcogliese, Irene Valenzuela

المصدر: Haematologica. 107:887-898

مصطلحات موضوعية: Mutation, Somatic cell, Hematopoietic stem cell, Hematology, Biology, medicine.disease_cause, Germline, DNA Methyltransferase 3A, Hematopoiesis, Mice, Germ Cells, medicine.anatomical_structure, Intellectual Disability, embryonic structures, DNA methylation, Cancer research, medicine, Animals, Humans, Peripheral blood cell, DNA (Cytosine-5-)-Methyltransferases, Stem cell, Carcinogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee1158ac5183ad23ebdd58bdb646b2e
https://doi.org/10.3324/haematol.2021.278990

المؤلفون: Amaia Lasa-Aranzasti, Ana Cazurro-Gutiérrez, Agustín Bescós, Victoria González, Lourdes Ispierto, Manel Tardáguila, Irene Valenzuela, Alberto Plaja, Antonio Moreno-Galdó, Alfons Macaya-Ruiz, Belen Pérez-Dueñas

المصدر: Parkinsonismrelated disorders. 103

مصطلحات موضوعية: Dystonia, Treatment Outcome, Neurology, Dystonic Disorders, Deep Brain Stimulation, Humans, Neurology (clinical), Haploinsufficiency, Geriatrics and Gerontology, GTP-Binding Protein alpha Subunits, Gi-Go, Globus Pallidus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5552d15d9a9e9080d14748891ee52e6a
https://pubmed.ncbi.nlm.nih.gov/36096018