Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Manuel Ginarte Val"'
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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
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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
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6
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
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8
Lesión supurativa persistente en mentón
Autor: Lidia Pérez-Pérez, Manuel Ginarte-Val
Publikováno v: Piel. 21:39-41
Piel. 2006;21(1):39-41 Varon de 64 anos de edad, sin antecedentes personales de interes, que consulto por una lesion asintomatica en la piel del menton, de aproximadamente un ano y medio de evolucion, a traves de la cual drenaba de forma esporadica u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e6988a045cbf2b74b8c6475bc7acecb7
https://doi.org/10.1016/s0213-9251(06)72424-8
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9
Adenoma tubular apocrino
Autor: Jaime Toribio Pérez, Carmen Peteiro García, Benigno Monteagudo Sánchez, Manuel Ginarte Val
Publikováno v: Actas Dermo-Sifiliográficas. 94:99-101
We report the case of a 26-year-old man with an axillar tumour composed of tubules lined by two rows of cells showing decapitation secretion, which was diagnosed as tubular apocrine adenoma. We discuss on the nosology of this entity, particularly its
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a1b8f298423b946954a2e89ac84aceda
https://doi.org/10.1016/s0001-7310(03)79233-3
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