Výsledky vyhledávání - "Marivi Cervera-Gaviria"

Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature

Autor: Julián García-Sánchez, Julia Enterría-Rosales, Juan José Juárez-Vignon-Whaley, Jaime Cervera-Gaviria, Rodrigo Treviño-Velasco, Marivi Cervera-Gaviria

Publikováno v: Journal of Pediatric Genetics.

Mutations in the FKRP gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the FKRP gene (c.1387A > G, p.Asn46

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a159e4d9811234f5df53c85f450802c2
https://doi.org/10.1055/s-0041-1726470

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Síndrome de fibromatosis hialina: reporte de un caso y revisión bibliográfica

Autor: Marivi Cervera Gaviria, Julián García Sánchez, Blanca Gabriela Lizeth Legorreta Ramírez, Juan José Juárez Vignon Whaley

Publikováno v: Acta Pediátrica de México. 40:274

ANTECEDENTES: El síndrome de fibromatosis hialina es una enfermedad rara del tejido conectivo, con patrón de herencia autosómica recesiva, caracterizada por múltiples nódulos subcutáneos, en la piel, hipertrofia gingival, contracturas articular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a8f94604e6d60abfda9eccebcb7aceb7
https://doi.org/10.18233/apm40no5pp274-2811893

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An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family

Autor: Paola Moyers-Pérez, Jaime Cervera-Gaviria, Ariadna González-del Angel, Nancy Barrera-Carmona, Marivi Cervera-Gaviria, Miguel Angel Alcántara-Ortigoza, Blanca Gabriela Lizet Legorreta-Ramírez

Publikováno v: BMC Neurology

Background Niemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by defects in intracellular lipid trafficking, which lead to the accumulation of lipids and glycosphingolipids within the end

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7bd9f6e3094010538c1d4fcd9cc7491
https://doi.org/10.1186/s12883-016-0649-5

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