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Page 1
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C. Vieitez I, et al. Among authors: millan jm. Neurologia. 2017 Jul-Aug;32(6):377-385. doi: 10.1016/j.nrl.2015.12.009. Epub 2016 Mar 9. Neurologia. 2017. PMID: 26968818 Free article. English, Spanish.
Guidelines for genetic study of aniridia.
Blanco-Kelly F, Villaverde-Montero C, Lorda-Sánchez I, Millán JM, Trujillo-Tiebas MJ, Ayuso C. Blanco-Kelly F, et al. Among authors: millan jm. Arch Soc Esp Oftalmol. 2013 Apr;88(4):145-52. doi: 10.1016/j.oftal.2012.07.006. Epub 2012 Sep 25. Arch Soc Esp Oftalmol. 2013. PMID: 23597644 Review. English, Spanish.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Among authors: millan jm. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C. Beneyto MM, et al. Among authors: millan jm. Ophthalmic Genet. 2000 Jun;21(2):123-8. Ophthalmic Genet. 2000. PMID: 10916187
Gene symbol: CRB1.
Vallespin E, Millan JM, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Gallego J, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Among authors: millan jm. Hum Genet. 2007 Feb;120(6):914. Hum Genet. 2007. PMID: 17438615 No abstract available.
[Molecular genetic study of Usher syndrome in Spain].
Jaijo T, Aller E, Beneyto M, Nájera C, Millán JM. Jaijo T, et al. Among authors: millan jm. Acta Otorrinolaringol Esp. 2005 Aug-Sep;56(7):285-9. doi: 10.1016/s0001-6519(05)78616-7. Acta Otorrinolaringol Esp. 2005. PMID: 16240916 Free article. Spanish.
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM. Jaijo T, et al. Among authors: millan jm. Hum Mutat. 2006 Mar;27(3):290-1. doi: 10.1002/humu.9404. Hum Mutat. 2006. PMID: 16470552
226 results