Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Juan López Siles"'
Autor:
Mária Ondrejkovičová, Sylvia Dražilová, Monika Drakulová, Juan López Siles, Renáta Zemjarová Mezenská, Petra Jungová, Martin Fabián, Boris Rychlý, Miroslav Žigrai
Publikováno v:
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical pictu
Externí odkaz:
https://doaj.org/article/ccea115b715643bcb145806b35267f60
Autor:
Martin Fabian, Petra Jungová, Renáta Zemjarová Mezenská, Boris Rychlý, Miroslav Žigrai, Juan López Siles, Monika Drakulová, Mária Ondrejkovičová, Sylvia Dražilová
Publikováno v:
BMC Gastroenterology
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-6 (2020)
Background Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical picture can be
Autor:
Javier López Montiel, Carmen Palma Milla, Carmen Benito, Juan López Siles, Pilar Carrasco Salas, Sara Franco Freire
Publikováno v:
Medicina Clínica. 146:163-166
Resumen Fundamento y objetivo La neuropatia optica hereditaria de Leber se caracteriza por una perdida de vision aguda o subaguda, producida por mutaciones en el ADN mitocondrial. Pacientes y metodos Presentamos el estudio molecular realizado en una
Autor:
Margarita Medina Castellano, Julio Perez Gonzalez, Alfredo Santana Rodríguez, Yeray Novoa Medina, Carmen Palma Milla, Raquel García Delgado, Raquel García Rodríguez, Loida María García Cruz, José Ángel García Hernández, Juan López Siles
Publikováno v:
Prenatal diagnosis. 39(6)
Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition (speci
Autor:
Sara Franco Freire, Pablo Sánchez González, Carmen Torres Fernández, Carlos Sánchez Linares, Juan López Siles, Javier López Montiel, Sandra Carmona Tamajón, Carmen Benito López, Lucas David Andrés Garrido, Carmen Palma Milla, José Miguel Lezana Rosales
Publikováno v:
Annals of human genetics. 82(6)
Neurofibromatosis type I (NF1) is one of the most common genetic disorders in humans. NF1, a tumor predisposition syndrome, is caused by heterozygous pathogenic variants in the NF1 gene. Molecular genetic testing of NF1 is complex, especially because
Autor:
Carmen Benito, Sara Franco Freire, Carmen Palma Milla, José Miguel Lezana Rosales, Pilar Carrasco Salas, Juan López Siles
Publikováno v:
American Journal of Medical Genetics Part A. 170:544-546
Autor:
María José Peña, Katrin Beyer, Eduardo López-Laso, Juliana Matas, María Elena Mateos, Juana Guzmán, Juan López Siles, Juan Luis Pérez-Navero
Publikováno v:
American Journal of Medical Genetics Part A. 161:1091-1095
Mutations in the gene encoding glypican (GPC) 3 appear to be responsible for most cases of Simpson-Golabi-Behmel syndrome type 1. Duplication of the GPC4 gene has also been associated to this syndrome; however, no duplications involving GPC3 have bee
Autor:
David Moreno-Pérez, Antonio Jurado-Ortiz, Laura Olalla-Martín, Francisco Jesús García-Martín, Juan López-Siles, Marta Cruz-Cañete
Publikováno v:
Enfermedades Infecciosas y Microbiología Clínica. 25:177-183
Introduccion La gripe en pediatria ha sido clasicamente infradiagnosticada, por su clinica inespecifica y solapable con otros virus respiratorios. Los menores de 24 meses constituyen un grupo de riesgo y los escolares son una fuente importante de con
Autor:
Carmen Benito, Javier López Montiel, Pilar Carrasco Salas, Juan López Siles, Carmen Palma Milla, Sara Franco Freire
Publikováno v:
Medicina clinica. 146(4)
Background and objective Leber hereditary optic neuropathy is characterised by acute and subacute visual loss, produced by mitochondrial DNA mutations. Patients and methods The molecular study of a family with only one affected member is presented. R
Autor:
Marta, Cruz-Cañete, David, Moreno-Pérez, Antonio, Jurado-Ortiz, Francisco Jesús, García-Martín, Juan, López-Siles, Laura, Olalla-Martín
Publikováno v:
Enfermedades infecciosas y microbiologia clinica. 25(3)
Influenza infection in infants and children has been classically underestimated due to its non-specific symptoms, which sometimes overlap those of other respiratory viruses. Infants under 24 months are a risk group and school-aged children are a majo