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Expanded carrier screening in gamete donors of Venezuela.
Urbina MT, Benjamin I, Medina R, Jiménez J, Trías L, Lerner J. Urbina MT, et al. JBRA Assist Reprod. 2017 Dec 1;21(4):356-360. doi: 10.5935/1518-0557.20170062. JBRA Assist Reprod. 2017. PMID: 29099150 Free PMC article.
Among the high-impact most prevalent conditions in our study (Carrier Map group) were: 21-Hydroxilase-Deficient Congenital Nonclassical Adrenal Hyperplasia (1/8), Factor V deficiency (1/12), Hemochromatosis: Type 1: HFE Related (1/12), Short Chain Acyl-CoA (1 …
Among the high-impact most prevalent conditions in our study (Carrier Map group) were: 21-Hydroxilase-Deficient Congenital Nonclassical Adre …
Effect of C282Y genotype on self-reported musculoskeletal complications in hereditary hemochromatosis.
Camacho A, Funck-Brentano T, Simão M, Cancela L, Ottaviani S, Cohen-Solal M, Richette P. Camacho A, et al. PLoS One. 2015 Mar 30;10(3):e0122817. doi: 10.1371/journal.pone.0122817. eCollection 2015. PLoS One. 2015. PMID: 25822977 Free PMC article.
We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotyp …
We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genot …
Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.
Cruz-Rojo J, Fontanellas A, Morán-Jiménez MJ, Navarro-Ordóñez S, García-Bravo M, Méndez M, Muñoz-Rivero MC, de Salamanca RE. Cruz-Rojo J, et al. Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):845-52. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 12699242
Estrogens appeared as a precipitating factor for women with familial-PCT. The H63D mutation in the hemochromatosis type 1 gene was more frequently found than the C282Y mutation. ...
Estrogens appeared as a precipitating factor for women with familial-PCT. The H63D mutation in the hemochromatosis type 1 …