Výsledky vyhledávání - "A. García-Oguiza"

Akademický článek

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006–2010

Autor: J. López-Pisón, M.C. García-Jiménez, L. Monge-Galindo, M. Lafuente-Hidalgo, R. Pérez-Delgado, A. García-Oguiza, J.L. Peña-Segura

Publikováno v: Neurología (English Edition), Vol 29, Iss 7, Pp 402-407 (2014)

Introduction: Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no uni

Externí odkaz: https://doaj.org/article/8ec1fcd3e7b2497c9702bc2ca16fd06b

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Akademický článek

Nuestra experiencia en el diagnóstico etiológico del retraso global del desarrollo y discapacidad intelectual: 2006-2010

Autor: J. López-Pisón, M.C. García-Jiménez, L. Monge-Galindo, M. Lafuente-Hidalgo, R. Pérez-Delgado, A. García-Oguiza, J.L. Peña-Segura

Publikováno v: Neurología, Vol 29, Iss 7, Pp 402-407 (2014)

Resumen: Introducción: El retraso global del desarrollo (RGD) y la discapacidad intelectual (DI) son motivos de consulta frecuentes en la práctica neuropediátrica. El rendimiento de los estudios diagnósticos en niños con RGD/DI varía ampliament

Externí odkaz: https://doaj.org/article/8b3836cdc3c14314a2994f2c6aaa6b8b

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Akademický článek

Phenotypic comparison of patients affected with DeSanto‐Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC

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

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Akademický článek

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

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

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Akademický článek

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

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

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Aicardi syndrome: a bibliographic review

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