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DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.
Hum Genet. 2020 Nov;139(11):1455-1470. doi: 10.1007/s00439-020-02189-5. Epub 2020 Jun 5.
Hum Genet. 2020.
PMID: 32504121
Mutant GNLY is linked to Stevens-Johnson syndrome and toxic epidermal necrolysis.
Fonseca DJ, Caro LA, Sierra-Díaz DC, Serrano-Reyes C, Londoño O, Suárez YC, Mateus HE, Bolívar-Salazar D, Ramírez AF, de-la-Torre A, Laissue P.
Fonseca DJ, et al. Among authors: sierra diaz dc.
Hum Genet. 2019 Dec;138(11-12):1267-1274. doi: 10.1007/s00439-019-02066-w. Epub 2019 Oct 14.
Hum Genet. 2019.
PMID: 31642954
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FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia.
Quintero-Ronderos P, Jiménez KM, Esteban-Pérez C, Ojeda DA, Bello S, Fonseca DJ, Coronel MA, Moreno-Ortiz H, Sierra-Díaz DC, Lucena E, Barbaux S, Vaiman D, Laissue P.
Quintero-Ronderos P, et al. Among authors: sierra diaz dc.
Mol Med. 2019 Aug 8;25(1):37. doi: 10.1186/s10020-019-0104-3.
Mol Med. 2019.
PMID: 31395028
Free PMC article.
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Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans.
Laissue P, Lakhal B, Vatin M, Batista F, Burgio G, Mercier E, Santos ED, Buffat C, Sierra-Diaz DC, Renault G, Montagutelli X, Salmon J, Monget P, Veitia RA, Méhats C, Fellous M, Gris JC, Cocquet J, Vaiman D.
Laissue P, et al. Among authors: sierra diaz dc.
Open Biol. 2016 Oct;6(10):160109. doi: 10.1098/rsob.160109.
Open Biol. 2016.
PMID: 27805902
Free PMC article.
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Structural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.
Agudelo WA, Gil-Quiñones SR, Fonseca A, Arenas A, Castro L, Sierra-Díaz DC, Patarroyo MA, Laissue P, Suárez CF, Cabrera R.
Agudelo WA, et al. Among authors: sierra diaz dc.
Int J Mol Sci. 2021 Nov 28;22(23):12861. doi: 10.3390/ijms222312861.
Int J Mol Sci. 2021.
PMID: 34884666
Free PMC article.
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Functional Analysis of BRCA1 3'UTR Variants Predisposing to Breast Cancer.
Sierra-Díaz DC, Cabrera R, Gonzalez-Vasquez LA, Angulo-Aguado M, Llinás-Caballero K, Fonseca-Mendoza DJ, Contreras-Bravo NC, Restrepo CM, Ortega-Recalde O, Morel A.
Sierra-Díaz DC, et al.
Appl Clin Genet. 2024 May 23;17:57-62. doi: 10.2147/TACG.S444546. eCollection 2024.
Appl Clin Genet. 2024.
PMID: 38803352
Free PMC article.
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