MECP2-Related Disorders in Males

Autor: Pascual-Alonso A, Martinez-Monseny T, Xiol-Viñas C, Armstrong-Moron J

Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::70e8465defd1ead3523c767970d7e77e
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=20076

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

Autor: Vidal-Falcó S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi-Tarrau N, Pacheco-Fernández P, Xiol-Viñas C, Pineda M, Rett Working Group, Armstrong-Moron J

Publikováno v: Molecular genetics & genomic medicine
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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BACKGROUND: Rett syndrome (RTT) is a developmental disorder with an early onset and X-linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::d2e69f2aa5cf7f53a31b6cac824df3ed
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16356

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

Autor: Vidal-Falcó S, Xiol-Viñas C, Pascual-Alonso A, O'Callaghan-Gordo M, Pineda M, Armstrong-Moron J

Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and is one of the most prevalent causes of intellectual disability in females. More than fifty

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7c7c01c80992ac54cc164c6bad39943b
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16555

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