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Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
Ramírez-Castro JL, Pineda-Trujillo N, Valencia AV, Muñetón CM, Botero O, Trujillo O, Vásquez G, Mora BE, Durango N, Bedoya G, Ruiz-Linares A. Ramírez-Castro JL, et al. Among authors: bedoya g. Am J Med Genet. 2002 Nov 15;113(1):47-51. doi: 10.1002/ajmg.10741. Am J Med Genet. 2002. PMID: 12400065
[Validation of the Diagnostic Interview for Genetic Studies (DIGS) in Colombia].
Palacio CA, García J, Arbeláez MP, Sánchez R, Aguirre B, Garcés IC, Montoya GJ, Gómez J, Agudelo A, López CA, Calle JJ, Cardeño CA, Cano JF, López MC, Montoya P, Herrera CP, González N, González A, Bedoya G, Ruiz A, Ospina J. Palacio CA, et al. Among authors: bedoya g. Biomedica. 2004 Mar;24(1):56-62. Biomedica. 2004. PMID: 15239602 Spanish.
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
Pineda-Trujillo N, Cornejo W, Carrizosa J, Wheeler RB, Múnera S, Valencia A, Agudelo-Arango J, Cogollo A, Anderson G, Bedoya G, Mole SE, Ruíz-Linares A. Pineda-Trujillo N, et al. Among authors: bedoya g. Neurology. 2005 Feb 22;64(4):740-2. doi: 10.1212/01.WNL.0000151974.44980.F1. Neurology. 2005. PMID: 15728307
162 results