Baiget M - Search Results

1

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A. Thompson DA, et al. Among authors: baiget m. Hum Mol Genet. 2005 Dec 15;14(24):3865-75. doi: 10.1093/hmg/ddi411. Epub 2005 Nov 3. Hum Mol Genet. 2005. PMID: 16269441

2

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

Valverde D, Pereiro I, Vallespín E, Ayuso C, Borrego S, Baiget M. Valverde D, et al. Among authors: baiget m. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1065-8. doi: 10.1167/iovs.08-2083. Epub 2008 Nov 14. Invest Ophthalmol Vis Sci. 2009. PMID: 19011012

3

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Barragán I, Borrego S, Pieras JI, González-del Pozo M, Santoyo J, Ayuso C, Baiget M, Millan JM, Mena M, Abd El-Aziz MM, Audo I, Zeitz C, Littink KW, Dopazo J, Bhattacharya SS, Antiñolo G. Barragán I, et al. Among authors: baiget m. Hum Mutat. 2010 Nov;31(11):E1772-800. doi: 10.1002/humu.21334. Hum Mutat. 2010. PMID: 21069908 Free PMC article.

4

Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.

Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M. Gamundi MJ, et al. Among authors: baiget m. Mol Vis. 2005 Nov 2;11:922-8. Mol Vis. 2005. PMID: 16280978 Free article.

5

Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele.

Valverde D, Riveiro-Alvarez R, Bernal S, Jaakson K, Baiget M, Navarro R, Ayuso C. Valverde D, et al. Among authors: baiget m. Mol Vis. 2006 Aug 11;12:902-8. Mol Vis. 2006. PMID: 16917483 Free article.

6

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

Gamundi MJ, Hernan I, Martínez-Gimeno M, Maseras M, García-Sandoval B, Ayuso C, Antiñolo G, Baiget M, Carballo M. Gamundi MJ, et al. Among authors: baiget m. BMC Med Genet. 2006 Apr 5;7:35. doi: 10.1186/1471-2350-7-35. BMC Med Genet. 2006. PMID: 16597330 Free PMC article.

7

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Alías L, et al. Among authors: baiget m. Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3. Hum Genet. 2009. PMID: 19050931

8

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D. Piñeiro-Gallego T, et al. Among authors: baiget m. Mol Vis. 2012;18:1794-802. Epub 2012 Jul 3. Mol Vis. 2012. PMID: 22876109 Free PMC article.

9

Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.

Valverde D, Riveiro-Alvarez R, Aguirre-Lamban J, Baiget M, Carballo M, Antiñolo G, Millán JM, Garcia Sandoval B, Ayuso C. Valverde D, et al. Among authors: baiget m. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):985-90. doi: 10.1167/iovs.06-0307. Invest Ophthalmol Vis Sci. 2007. PMID: 17325136

10

High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

Gamundi MJ, Hernan I, Muntanyola M, Trujillo MJ, García-Sandoval B, Ayuso C, Baiget M, Carballo M. Gamundi MJ, et al. Among authors: baiget m. Mol Vis. 2007 Jun 28;13:1031-7. Mol Vis. 2007. PMID: 17653047 Free PMC article.

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