Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lidia González‐Quereda"'
Autor:
Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal, Ma Pia Gallano
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)
Abstract Background Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic het
Externí odkaz:
https://doaj.org/article/0ba1061a7f2143d599f17183535b4dd9
Autor:
Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e59916 (2013)
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in 10% of cases and the production of alternatively spliced transcripts is consid
Externí odkaz:
https://doaj.org/article/01f25a8e27ed4e2ab08cfcd4aa96e734
Autor:
Jorge Alonso‐Pérez, Juan Carlos de León Hernández, Helena Pérez‐Pérez, María Dolores Mendoza‐Grimón, Antonio José Gutierrez‐Martinez, Ioanna Hadjigeorgiou, Fernando Montón‐Álvarez, Lidia González‐Quereda, Alicia Alonso‐Jimenez, Xavier Suárez‐Calvet, Jordi Díaz‐Manera
Publikováno v:
European journal of neurology
EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
EUROPEAN JOURNAL OF NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Background Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset myopathy characterized by ptosis, dysphagia, and progressive proximal limb muscle weakness. The disease is produced by a short expansion of the (GCN)(n) triplet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65c6d5211a0ba5644a8e59dd67d1a44
https://hdl.handle.net/10067/1865280151162165141
https://hdl.handle.net/10067/1865280151162165141
Autor:
Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, María del Prado Venegas
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict t
Externí odkaz:
https://doaj.org/article/07967e7b974044478f2e4457b6a25004
Autor:
Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0135189 (2015)
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require precise genetic diagnosis because most therapeutic strategies are mutation-specific. To understand more about the genotype-phenotype correlations of the DMD gene we
Externí odkaz:
https://doaj.org/article/1b1eb347881b4fc1be05851da8e1216e
Autor:
Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e29061 (2011)
BackgroundDysferlinopathies are caused by mutations in the dysferlin gene (DYSF). Diagnosis is complex due to the high clinical variability of the disease and because dysferlin expression in the muscle biopsy may be secondarily reduced due to a prima
Externí odkaz:
https://doaj.org/article/a2790daf220b462ebf310415059896be