Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Uxia Esperón-Moldes"'
1
Akademický článek
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect
Autor: Uxia Esperón-Moldes, Manuel Ginarte Val, Laura Rodríguez-Pazos, Laura Fachal, José Manuel Azaña, María Barberá Fons, Mónica Viejo Diaz, Ana Vega
Publikováno v: Acta Dermato-Venereologica, Vol 99, Iss 10, Pp 894-898 (2019)
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 ind
Externí odkaz: https://doaj.org/article/1e8317223ec9403bb761232d892d5400
Zobrazit plný text záznamu
2
Akademický článek
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
Autor: Uxia Esperón-Moldes, Manuel Ginarte-Val, Laura Rodríguez-Pazos, Laura Fachal, Ana Martín-Santiago, Asunción Vicente, David Jiménez-Gallo, Encarna Guillén-Navarro, Loreto Martorell Sampol, María Antonia González-Enseñat, Ana Vega
Publikováno v: PLoS ONE, Vol 15, Iss 2, p e0229025 (2020)
Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish
Externí odkaz: https://doaj.org/article/0ea9eb0f0fb14027b11273ccb93e27d4
Zobrazit plný text záznamu
3
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303CT founder mutation
Autor: Encarna Guillén-Navarro, María Antonia González-Enseñat, Loreto Martorell Sampol, Uxia Esperón-Moldes, Asunción Vicente, David Jiménez-Gallo, Laura Fachal, Ana Martín-Santiago, Laura Rodríguez-Pazos, Manuel Ginarte-Val, Ana Vega
Publikováno v: PLoS ONE
PLoS ONE, Vol 15, Iss 2, p e0229025 (2020)
Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f418ac3a183767ad3d9143f298aedeb
https://pubmed.ncbi.nlm.nih.gov/32069299
Zobrazit plný text záznamu
4
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
Autor: Manuel Ginarte, Uxia Esperón-Moldes, D. Tettamanti-Miranda, N. Ugalde-Noritz, Laura Fachal, Ana Vega, F. Moscoso, J. C. Ruiz, Jacobo Pardo-Seco, Laura Rodríguez-Pazos, Antonio Salas, Andrés Ordóñez-Ugalde, Martha Montalván-Suárez, Alberto Gómez-Carballa
Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing pattern
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a102be7e0b585b32793eeccce94f76
https://doi.org/10.1038/s41598-019-43133-6
Zobrazit plný text záznamu
7
A novelABCA12pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations
Autor: Fernanda Moscoso, Uxia Esperón-Moldes, Andrés Ordóñez-Ugalde, Daniel Tettamanti-Miranda, Laura Rodríguez-Pazos, Juan Carlos Ruiz, Ana Vega, Martha Montalván-Suárez, Nora Ugalde-Noritz, Manuel Ginarte, Laura Fachal, Luis Santomé
Publikováno v: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Molecular Genetics & Genomic Medicine
Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI gen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4343e7bc2a844acacb0d3fdaf5747dbf
https://doi.org/10.1002/mgg3.608
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje