Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Amaia Lasa‐Aranzasti"'
Autor:
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
Publikováno v:
Open Biology, Vol 14, Iss 7 (2024)
Palmoplantar keratoderma (PPK) is a multi-faceted skin disorder characterized by the thickening of the epidermis and abrasions on the palms and soles of the feet. Among the genetic causes, biallelic pathogenic variants in the FAM83G gene have been as
Externí odkaz:
https://doaj.org/article/f83bbced95d14422844e09e4000c188d
Autor:
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
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalo
Externí odkaz:
https://doaj.org/article/166caca1761d48df939f150c72881fb8
Autor:
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
Publikováno v:
Haematologica, Vol 107, Iss 4 (2021)
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth disorder caused by germline heterozygous mutations in the DNA methyltransferase DNMT3A. DNMT3A is a critical regulator of hematopoietic stem cell (HSC) differentiation and somatic DNMT3A mutations
Externí odkaz:
https://doaj.org/article/6079e5ab657743e3ae91733b02a811e1
Autor:
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100690- (2021)
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failur
Externí odkaz:
https://doaj.org/article/acea3658f5bd4727b3e310ec0b2b0b1b
Autor:
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
Publikováno v:
European Journal of Human Genetics. 31:223-230
Clinical exome sequencing has the potential to identify pathogenic variants unrelated to the purpose of the study (secondary findings, SFs). Data describing actual choices of SFs in participants in a clinical setting and factors influencing their dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd06709fa3180f7d1f259fd866df2a46
https://doi.org/10.1038/s41431-022-01240-5
https://doi.org/10.1038/s41431-022-01240-5
Autor:
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
Publikováno v:
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
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
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::943e833f54562fc53803a9db42994e5b
https://doi.org/10.1093/hmg/ddac167
https://doi.org/10.1093/hmg/ddac167
Autor:
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
Publikováno v:
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
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
Genotype; Intellectual disability; Phenotype Genotipo; Discapacidad intelectual; Fenotipo Genotip; Discapacitat intel·lectual; Fenotip We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e786f2ecd8803b730a91f04d46d55226
Autor:
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
Publikováno v:
Haematologica. 107:887-898
Tatton-Brown-Rahman syndrome (TBRS) is an overgrowth disorder caused by germline heterozygous mutations in the DNA methyltransferase DNMT3A. DNMT3A is a critical regulator of hematopoietic stem cell (HSC) differentiation and somatic DNMT3A mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee1158ac5183ad23ebdd58bdb646b2e
https://doi.org/10.3324/haematol.2021.278990
https://doi.org/10.3324/haematol.2021.278990
Autor:
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
Publikováno v:
Parkinsonismrelated disorders. 103
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5552d15d9a9e9080d14748891ee52e6a
https://pubmed.ncbi.nlm.nih.gov/36096018
https://pubmed.ncbi.nlm.nih.gov/36096018
Autor:
Miren Satrustegi Aritziturri, Itziar Martínez-Soroa, Amaia Lasa-Aranzasti, Elena Artola Aizalde, Unai Hernández Dorronsoro, Raquel Saez Villaverde, Cristina Aguirre Rodríguez, Pawel Gawlinski
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47e0b45951d724f65e5e63784579cc49
https://doi.org/10.1111/cge.14078/v2/response1
https://doi.org/10.1111/cge.14078/v2/response1