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ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.
Esperón-Moldes U, Ginarte M, Rodríguez-Pazos L, Fachal L, Pozo T, Aguilar JL, Del Boz González J, Santiago AM, Vega A. Esperón-Moldes U, et al. Among authors: rodriguez pazos l. J Dermatol Sci. 2018 Sep;91(3):328-331. doi: 10.1016/j.jdermsci.2018.05.012. Epub 2018 Jun 5. J Dermatol Sci. 2018. PMID: 29887490 Free article. No abstract available.
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.
Montalván-Suárez M, Esperón-Moldes US, Rodríguez-Pazos L, Ordóñez-Ugalde A, Moscoso F, Ugalde-Noritz N, Santomé L, Fachal L, Tettamanti-Miranda D, Ruiz JC, Ginarte M, Vega A. Montalván-Suárez M, et al. Among authors: rodriguez pazos l. Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27. Mol Genet Genomic Med. 2019. PMID: 30916489 Free PMC article.
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
Esperón-Moldes U, Ginarte-Val M, Rodríguez-Pazos L, Fachal L, Martín-Santiago A, Vicente A, Jiménez-Gallo D, Guillén-Navarro E, Sampol LM, González-Enseñat MA, Vega A. Esperón-Moldes U, et al. Among authors: rodriguez pazos l. PLoS One. 2020 Feb 18;15(2):e0229025. doi: 10.1371/journal.pone.0229025. eCollection 2020. PLoS One. 2020. PMID: 32069299 Free PMC article.
Autosomal recessive congenital ichthyosis.
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Rodríguez-Pazos L, et al. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Actas Dermosifiliogr. 2013. PMID: 23562412 Free article. Review. English, Spanish.
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Boyden LM, et al. Among authors: rodriguez pazos l. Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7. Br J Dermatol. 2017. PMID: 28403545 Free PMC article. No abstract available.
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.
Esperón-Moldes US, Pardo-Seco J, Montalván-Suárez M, Fachal L, Ginarte M, Rodríguez-Pazos L, Gómez-Carballa A, Moscoso F, Ugalde-Noritz N, Ordóñez-Ugalde A, Tettamanti-Miranda D, Ruiz JC, Salas A, Vega A. Esperón-Moldes US, et al. Among authors: rodriguez pazos l. Sci Rep. 2019 May 9;9(1):7175. doi: 10.1038/s41598-019-43133-6. Sci Rep. 2019. PMID: 31073126 Free PMC article.
42 results