Zobrazeno 1 - 10
of 37
pro vyhledávání: '"M.R. Rivera Vega"'
Publikováno v:
Revista Médica del Hospital General de México, Vol 80, Iss 2, Pp 97-100 (2017)
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome. It is caused by a deficiency in the activity of the lysosomal e
Externí odkaz:
https://doaj.org/article/ce78799117154b0aaf2da182f0f6743b
Autor:
M. Martínez-Saucedo, M.R. Rivera-Vega, L.M. Gonzalez-Huerta, H. Urueta-Cuéllar, S.A. Cuevas-Covarrubias
Publikováno v:
Revista Médica del Hospital General de México, Vol 80, Iss 2, Pp 77-80 (2017)
Background: Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the GJB2 gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in t
Externí odkaz:
https://doaj.org/article/55fc955ea6fe42679a404ba6655054e2
Autor:
Aralí Melgarejo-Gómez, M.R. Rivera-Vega, Jorge R. Cazarín-Barrientos, Dennise L. Smith-Pellegrin, Sergio A. Cuevas-Covarrubias, Olga Messina-Baas
Publikováno v:
Revista Médica del Hospital General de México, Vol 84, Iss 4 (2021)
Darier disease is a clinically variable rare disease with autosomal dominant inheritance caused by mutations in ATP2A2 gene. It affects skin, mucous membranes, and nails. The onset of symptoms is during adolescence and persists through adulthood, aff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f57a7e7eeb40fde617ea3f89fef0182e
https://www.hospitalgeneral.com/frame_esp.php?id=113
https://www.hospitalgeneral.com/frame_esp.php?id=113
Autor:
Verónica Fabiola Morán-Barroso, Fernando Fernández-Ramírez, Laura Eréndira Contreras-Ortiz, Adriana Del Castillo-Moreno, Estefanía Mejía-Cauich, M.R. Rivera-Vega, Alejandra Moreno-Chacón, Alicia Cervantes
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Background Trisomy 13 or Patau syndrome has a prevalence of 1:10,000–20,000 and is characterized by microcephaly, microphthalmia, polydactyly, as well as other dysmorphic features and malformations, with a patient survival of 13% in the first year.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a469fdd2587bb29481361797dc7c1394
https://pubmed.ncbi.nlm.nih.gov/34288579
https://pubmed.ncbi.nlm.nih.gov/34288579
Autor:
Luz María González-Huerta, H. Urueta-Cuéllar, M. Martínez-Saucedo, Sergio A. Cuevas-Covarrubias, M.R. Rivera-Vega
Publikováno v:
Revista Médica del Hospital General de México, Vol 80, Iss 2, Pp 77-80 (2017)
Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the GJB2 gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc598961d1b612ad583e4d64955e0a7d
https://doi.org/10.1016/j.hgmx.2016.08.001
https://doi.org/10.1016/j.hgmx.2016.08.001
Autor:
Sergio A. Cuevas-Covarrubias, Francisco Loeza-Becerra, Mirna Martínez-Saucedo, Héctor Urueta-Cuellar, Luz María González-Huerta, Pedro Berrruecos-Villalobos, M.R. Rivera-Vega
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 78:1057-1060
Background Hereditary sensorineural hearing loss (SNHL) is a genetically heterogeneous disorder worldwide. Mutations in the GJB2 gene are a frequent cause of hereditary SNHL. There is a prevalence of certain mutations in various populations which sug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d089f8a09dd4d34c981c5465b81d5437
https://doi.org/10.1016/j.ijporl.2014.04.002
https://doi.org/10.1016/j.ijporl.2014.04.002
Akademický článek
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Publikováno v:
Revista Médica del Hospital General de México, Vol 80, Iss 2, Pp 97-100 (2017)
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome. It is caused by a deficiency in the activity of the lysosomal e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40b8b5f8dc6155de9caca2407b94f49b
Autor:
Jaime Lopez-Valdez, Luz Maria Gonzalez-Huerta, Jorge Cazarin, M.R. Rivera-Vega, Sergio A. Cuevas-Covarrubias
Publikováno v:
Pediatric Dermatology. 30:354-358
Epidermolytic palmoplantar keratoderma (EPPK), an autosomal-dominant genodermatosis, is the most frequently occurring hereditary palmoplantar keratoderma. EPPK is characterized by hyperkeratosis of the palms and soles. Approximately 90% of patients p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83627888b49baa538c749e747f1d7798
https://doi.org/10.1111/pde.12027
https://doi.org/10.1111/pde.12027
Autor:
Susana Kofman-Alfaro, M.R. Rivera-Vega, C.A. Venegas-Vega, Sergio A. Cuevas-Covarrubias, J. Orozco
Publikováno v:
American Journal of Medical Genetics Part A. :2448-2451
Satoyoshi syndrome (SS) (OMIM 600705) is a rare multisystemic disorder of unknown etiology characterized by progressive painful intermittent muscle spasm, alopecia universalis, diarrhea, short stature, amenorrhea, and secondary skeletal abnormalities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e5055d10edf963ae55cb11809458710
https://doi.org/10.1002/ajmg.a.32751
https://doi.org/10.1002/ajmg.a.32751