Front Cover

Autor: Ainhoa Pascual‐Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio F. Martínez‐Monseny, Alba Aina Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Campo, Encarna Guillén, Salva Ibañez, María J. Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Elisabet Lloveras, Juan D. Ortigoza‐Escobar, María I. Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María A. Mesas, María Obón, Alberto Plaja, Joaquín A. Fernández‐Ramos, Eduardo Tizzano, Rosario Marín, José L. Peña‐Segura, Soledad Alcántara, Judith Armstrong

Publikováno v: Clinical Genetics. 97

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::202e2ec403763de4affe42e483322c72
https://doi.org/10.1111/cge.13733

Molecular characterization of Spanish patients with MECP2 duplication syndrome

Autor: Antonio Martinez-Monseny, Clara Xiol, María Aurora Mesas, Alberto Plaja, Carlota Ros, Judith Armstrong, Pablo Lapunzina, Soledad Alcántara, José Luís Peña‐Segura, Maria Sanchez, Vicenç Català, Mónica Roselló, Patricia Rubio, Alba-Aina Castells, Rosario Marín, Mar O'Callaghan, Eduardo F. Tizzano, Francisco Martínez, Carmen Orellana, Joaquín A. Fernández-Ramos, María Obón, Silvia Vidal, Salva Ibañez, Esther Gean, Encarna Guillén, Maria Isabel Tejada, Elisabet Lloveras, Paola Pacheco, Nuria Brandi, Laura Blasco, Fernando Santos, Ainhoa Pascual-Alonso, Miguel Del Campo, Juan Darío Ortigoza-Escobar, Hiart Maortua, Julián Nevado

Publikováno v: CLINICAL GENETICS
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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MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9703b07125f4ea2756a632ae65fce6
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17395

De novo Interstitial Triplication of MECP2 in a Girl with Neurodevelopmental Disorder and Random X Chromosome Inactivation

Autor: Silvestre Oltra, Francisco Martínez, Vicenç Català, Carmen Orellana, Mónica Roselló, Judith Armstrong, Sonia Mayo, Sandra Monfort

Publikováno v: Cytogenetic and Genome Research. 135:93-101

Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d7f53482454cd5b7c87a3a45c329411e
https://doi.org/10.1159/000330917

Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome?

Autor: Anna Canellas, C. Cerdan, Vincenzo Cirigliano, Vicenç Català, Elisabet Lloveras, Alberto Plaja

Publikováno v: Fetal diagnosis and therapy. 34(3)

Characterization of marker chromosomes before the introduction of array CGH (aCGH) assays was only based on their banding patterns (G, C, and NOR staining) and fluorescent in situ hybridization techniques. The use of aCGH greatly improves the identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1d5e6a9c58cb7e16b268fda3e546f4
https://pubmed.ncbi.nlm.nih.gov/23485930

Phylloid Hypomelanosis and Mosaic Partial Trisomy 13

Autor: Esther Gean, Vicenç Català, Rudolf Happle, M. Antonia González-Enseñat, Asunción Vicente, P Póo, Carme Fuster, M. Mar Pérez-Iribarne

Publikováno v: Archives of Dermatology. 145

Background Phylloid hypomelanosis is a rare neurocutaneous syndrome characterized by a pattern of hypopigmentation consisting of leaflike or oblong macules reminiscent of floral ornaments. Associated extracutaneous anomalies include cerebral, ocular,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c70fd843ce67872180e9657465562bb
https://doi.org/10.1001/archdermatol.2009.37