Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Alberto García-Oguiza"'
Autor:
Cristina Toledo‐Gotor, Cristina García‐Muro, Alberto García‐Oguiza, Mª. Luisa Poch‐Olivé, Mª. Yolanda Ruiz‐del Prado, Elena Domínguez‐Garrido
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Introduction DeSanto‐Shinawi syndrome is a rare neurodevelopmental disorder caused by loss‐of‐function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disabilit
Externí odkaz:
https://doaj.org/article/4dce3fb82d50432fa9995d89fd73dff5
Autor:
María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to
Externí odkaz:
https://doaj.org/article/a134cbfb26ba4247aa62eca80e8b71b8
Autor:
Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Rubinstein‐Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied
Externí odkaz:
https://doaj.org/article/64f4772ba8c645adabb9856b4244a604
Autor:
Cristina Toledo Gotor, Cristina García Muro, María De Pablo de las Heras, Sara Pasamón García, Myriam Salvá Artega, Alberto García Oguiza
Publikováno v:
Pediatría (Asunción), Volume: 50, Issue: 1, Pages: 64-71, Published: APR 2023
RESUMEN Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45c80a46dec4b221387c8c4707bfd494
http://scielo.iics.una.py/scielo.php?script=sci_arttext&pid=S1683-98032023000100064&lng=en&tlng=en
http://scielo.iics.una.py/scielo.php?script=sci_arttext&pid=S1683-98032023000100064&lng=en&tlng=en
Autor:
Raquel, Pérez Delgado, Ana, Soria Marzo, Inmaculada, García Jiménez, Carmen, Campos Calleja, Juan Ramón, García Mata, Miguel, Lafuente Hidalgo, Alberto, García Oguiza, Javier, López Pisón, José, Luis Peña Segura, Antonio, Baldellou Vázquez
Publikováno v:
Revista de calidad asistencial : organo de la Sociedad Espanola de Calidad Asistencial. 23(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5f5b71db5b6fbdcd001e85e4ed00d134
https://pubmed.ncbi.nlm.nih.gov/23040192
https://pubmed.ncbi.nlm.nih.gov/23040192
Autor:
Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.
Externí odkaz:
https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7