Zobrazeno 1 - 3
of 3
pro vyhledávání: '"M. Mar García González"'
Autor:
Elena Martín Hernández, María Socorro Pérez-Poyato, Montserrat Milà, Laia Rodriguez-Revenga, Antonio Martínez Bermejo, Alfonso Verdú Pérez, Jesús Eiris Puñal, María J Martínez González, Isidre Ferrer Abizanda, M. Josep Coll Rosell, Mercé Pineda Marfa, Victoria Cusí Sánchez, M. Mar García González, Laura Gort
Publikováno v:
Journal of Child Neurology. 28:470-478
Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. The authors report the clinical outcome and correlate with genotype in 12 Spanish patients with this disease. Psychomot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ce9b2986b52171a4ce5a91671c8e76
https://doi.org/10.1177/0883073812448459
https://doi.org/10.1177/0883073812448459
Autor:
L. Rodriguez-Revenga, María-Socorro Pérez-Poyato, M. Mar García González, Mercé Pineda Marfa, Montserrat Milá Recansens, Ramón Velázquez Fragua, Antonio Martínez-Bermejo, Rafael Camino León, Rosario Domingo Jiménez, Victoria Cusí Sánchez, Raquel Montero Sánchez, Isidre Ferrer Abizanda
Publikováno v:
Journal of Inherited Metabolic Disease. 34:1083-1093
Juvenile neuronal ceroid lipofuscinosis (JNCL, NCL3, Batten disease) is usually caused by a 1.02-kb deletion in the CLN3 gene. Mutations in the CLN1 gene may be associated with a variant form of JNCL (vJNCL). We report the clinical course and molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ac52028d4580dc24da4c3126680207
https://doi.org/10.1007/s10545-011-9323-7
https://doi.org/10.1007/s10545-011-9323-7
Autor:
Kerstin Kutsche, Dagmar Wieczorek, M Mar García González, Silvia Azzarello-Burri, Christiane Spaich, May-Britt Harmsen, Anita Rauch, Martin Zenker, Dietmar Müller, Peter Meinecke, Eva Seemanova, Eva Rossier, Bernhard Steiner, Gabriele Gillessen-Kaesbach
Publikováno v:
European Journal of Human Genetics. 17:1207-1215
Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61b484445ffd0e320c88fc69c548a35c
https://doi.org/10.1038/ejhg.2009.40
https://doi.org/10.1038/ejhg.2009.40