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Page 1
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M. García M, et al. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745
Congenital plate-like osteoma cutis in an infant.
Hernandez-Martin A, Perez-Mies B, Torrelo A. Hernandez-Martin A, et al. Pediatr Dermatol. 2009 Jul-Aug;26(4):479-81. doi: 10.1111/j.1525-1470.2009.00962.x. Pediatr Dermatol. 2009. PMID: 19689534
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ, García M, Cuadrado-Corrales N, Llames SG, Charlesworth A, De Luca N, Illera N, Sánchez-Jimeno C, Holguín A, Duarte B, Trujillo-Tiebas MJ, Vicario JL, Santiago JL, Hernández-Martín A, Torrelo A, Castiglia D, Ayuso C, Larcher F, Jorcano JL, Meana A, Meneguzzi G, Zambruno G, Del Rio M. Escámez MJ, et al. Br J Dermatol. 2010 Jul;163(1):155-61. doi: 10.1111/j.1365-2133.2010.09713.x. Epub 2010 Feb 22. Br J Dermatol. 2010. PMID: 20184583
[Unilateral linear hyperpigmentation in a girl].
Hernández-Martín A, Colmenero I, Torrelo A. Hernández-Martín A, et al. Actas Dermosifiliogr. 2010 Jun;101(5):449-50. Actas Dermosifiliogr. 2010. PMID: 20525489 Spanish. No abstract available.
Extensive comedonal and cystic acne in Patau syndrome.
Torrelo A, Fernandez-Crehuet P, Del Prado E, Martes P, Hernández-Martín A, De Diego V, Carapeto F. Torrelo A, et al. Pediatr Dermatol. 2010 Mar-Apr;27(2):199-200. doi: 10.1111/j.1525-1470.2010.01098.x. Pediatr Dermatol. 2010. PMID: 20537076
258 results