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Page 1
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Martinez de Lapiscina I, Kouri C, Aurrekoetxea J, Sanchez M, Naamneh Elzenaty R, Sauter KS, Camats N, Grau G, Rica I, Rodriguez A, Vela A, Cortazar A, Alonso-Cerezo MC, Bahillo P, Bertholt L, Esteva I, Castaño L, Flück CE. Martinez de Lapiscina I, et al. Among authors: camats n. PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023. PLoS One. 2023. PMID: 37432935 Free PMC article.
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Katharopoulos E, Di Iorgi N, Fernandez-Alvarez P, Pandey AV, Groessl M, Dubey S, Camats N, Napoli F, Patti G, Lezzi M, Maghnie M, Flück CE. Katharopoulos E, et al. Among authors: camats n. Int J Mol Sci. 2020 Aug 27;21(17):6185. doi: 10.3390/ijms21176185. Int J Mol Sci. 2020. PMID: 32867102 Free PMC article.
Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.
Sardón O, Torrent-Vernetta A, Rovira-Amigo S, Dishop MK, Ferreres JC, Navarro A, Corcuera P, Korta-Murua J, Peña PG, Pérez-Belmonte E, Villares A, Camats N, Fernández-Cancio M, Carrascosa A, Pérez-Yarza EG, Moreno-Galdó A. Sardón O, et al. Among authors: camats n. Pediatr Pulmonol. 2019 Jun;54(6):837-846. doi: 10.1002/ppul.24324. Epub 2019 Mar 25. Pediatr Pulmonol. 2019. PMID: 30912317
Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency.
Fernández-Cancio M, Camats N, Flück CE, Zalewski A, Dick B, Frey BM, Monné R, Torán N, Audí L, Pandey AV. Fernández-Cancio M, et al. Among authors: camats n. Pharmaceuticals (Basel). 2018 Apr 29;11(2):37. doi: 10.3390/ph11020037. Pharmaceuticals (Basel). 2018. PMID: 29710837 Free PMC article.
25 results