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Genetic and clinical characterization of 73 Pigmentary Mosaicism patients: revealing the genetic basis of clinical manifestations.
Salas-Labadía C, Gómez-Carmona S, Cruz-Alcívar R, Martínez-Anaya D, Del Castillo-Ruiz V, Durán-McKinster C, Ulloa-Avilés V, Yokoyama-Rebollar E, Ruiz-Herrera A, Navarrete-Meneses P, Lieberman-Hernández E, González-Del Angel A, Cervantes-Barragán D, Villarroel-Cortés C, Reyes-León A, Suárez-Pérez D, Pedraza-Meléndez A, González-Orsuna A, Pérez-Vera P. Salas-Labadía C, et al. Orphanet J Rare Dis. 2019 Nov 15;14(1):259. doi: 10.1186/s13023-019-1208-0. Orphanet J Rare Dis. 2019. PMID: 31730496 Free PMC article.
Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2.
Yamazaki-Nakashimada MA, Roldán-Marín R, Toussaint-Caire S, Olaya-Vargas A, Ramírez-Uribe N, Rivas-Larrauri F, Durán-McKinster C, Alcántara-Ortigoza MA, González-Del Angel A, Orozco-Covarrubias L, Scheffler-Mendoza S, Saez-de-Ocariz M. Yamazaki-Nakashimada MA, et al. J Eur Acad Dermatol Venereol. 2021 Jan;35(1):e53-e56. doi: 10.1111/jdv.16795. Epub 2020 Jul 22. J Eur Acad Dermatol Venereol. 2021. PMID: 32594618 No abstract available.
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome.
Garza-Mayén G, Ulloa-Avilés V, Villarroel CE, Navarrete-Meneses P, Lieberman-Hernández E, Abreu-González M, Márquez-Quiroz L, Azotla-Vilchis C, Cifuentes-Goches JC, Del Castillo-Ruiz V, Durán-McKinster C, Pérez-Vera P, Salas-Labadía C. Garza-Mayén G, et al. Eur J Med Genet. 2021 May;64(5):104199. doi: 10.1016/j.ejmg.2021.104199. Epub 2021 Mar 18. Eur J Med Genet. 2021. PMID: 33746039
Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.
Salas-Labadía C, Cervantes-Barragán DE, Cruz-Alcívar R, Daber RD, Conlin LK, Leonard LD, Spinner NB, Durán-McKinster C, Dávila-Ortíz de Montellano DJ, Del Castillo-Ruiz V, Pérez-Vera P. Salas-Labadía C, et al. Am J Med Genet A. 2014 Jul;164A(7):1765-9. doi: 10.1002/ajmg.a.36503. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677512 Review.
Usefulness of Trichoscopy over Hair Light Microscopy in Menkes Disease.
Sáez-de-Ocariz M, Aguilar-Sarmiento AS, Garcés-Abad MA, Vázquez-Arroyo P, García-Romero MT, Durán-McKinster C. Sáez-de-Ocariz M, et al. Skin Appendage Disord. 2022 Jan;8(1):57-60. doi: 10.1159/000518368. Epub 2021 Sep 2. Skin Appendage Disord. 2022. PMID: 35118132 Free PMC article.
73 results