Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Rett Working Group"'
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Akademický článek
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
Autor: Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract 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. T
Externí odkaz: https://doaj.org/article/1c84a3c1e8154de99ac1fb8e067727f2
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3
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Autor: Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M, Armstrong-Moron J, Rett Working Group
Publikováno v: SCIENTIFIC REPORTS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of R
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::32c6f902ab764930088d0893c0ae12d6
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16569
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4
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome
Autor: Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Joan Maynou Fernández, Fernandez G, Xiol C, Pascual-Alonso A, Pineda M, Rett Working Group, Armstrong-Moron J
Publikováno v: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7e896f38b30871789810542a7ab7f0d3
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16289
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5
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
instname
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
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6
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Autor: Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M, Armstrong-Moron J, Rett Working Group
Publikováno v: SCIENTIFIC REPORTS
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 almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::82e7b088687d07492c4936c8eba3727a
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13038
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