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Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.
Cañueto J, Girós M, Ciria S, Pi-Castán G, Artigas M, García-Dorado J, García-Patos V, Virós A, Vendrell T, Torrelo A, Hernández-Martín A, Martín-Hernández E, Garcia-Silva MT, Fernández-Burriel M, Rosell J, Tejedor M, Martínez F, Valero J, García JL, Sánchez-Tapia EM, Unamuno P, González-Sarmiento R. Cañueto J, et al. Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2. Br J Dermatol. 2012. PMID: 22121851 Review.
X-linked ichthyosis: an update.
Hernández-Martín A, González-Sarmiento R, De Unamuno P. Hernández-Martín A, et al. Br J Dermatol. 1999 Oct;141(4):617-27. doi: 10.1046/j.1365-2133.1999.03098.x. Br J Dermatol. 1999. PMID: 10583107 Review.
[Patients with clinical criteria for Lynch syndrome with and without mutations in DNA repair genes (MLH1 and MSH2). A challenge for the clinician].
Seijas Tamayo R, Martín Gómez T, Pérez García J, Macías Álvarez L, Sánchez Barba M, Castro Marcos E, Sánchez Tapia EM, González Sarmiento R, Cruz Hernández JJ. Seijas Tamayo R, et al. Med Clin (Barc). 2011 Jul 9;137(4):166-70. doi: 10.1016/j.medcli.2011.03.017. Epub 2011 May 23. Med Clin (Barc). 2011. PMID: 21601892 Spanish.
Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain.
Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat MA, Vicente A, Martín-Santiago A, Garcia-Bravo B, Feito M, Baselga E, Círia S, de Lucas R, Ginarte M, González-Sarmiento R, Torrelo A. Hernández-Martín A, et al. J Am Acad Dermatol. 2012 Aug;67(2):240-4. doi: 10.1016/j.jaad.2011.07.033. Epub 2011 Oct 14. J Am Acad Dermatol. 2012. PMID: 22000705
Molecular evidence of type 2 mosaicism in Gorlin syndrome.
Torrelo A, Hernández-Martín A, Bueno E, Colmenero I, Rivera I, Requena L, Happle R, González-Sarmiento R. Torrelo A, et al. Br J Dermatol. 2013 Dec;169(6):1342-5. doi: 10.1111/bjd.12458. Br J Dermatol. 2013. PMID: 23746055
277 results