Bernal S - Search Results

1

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: bernal s. Ophthalmic Genet. 2000 Jun;21(2):123-8. Ophthalmic Genet. 2000. PMID: 10916187

2

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.

Bernal S, Calaf M, Adan A, Solans T, Valverde D, Ayuso C, Baiget M. Bernal S, et al. Ophthalmic Genet. 2001 Mar;22(1):19-25. doi: 10.1076/opge.22.1.19.2237. Ophthalmic Genet. 2001. PMID: 11262646

3

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M. Bernal S, et al. J Med Genet. 2003 Jan;40(1):e8. doi: 10.1136/jmg.40.1.e8. J Med Genet. 2003. PMID: 12525556 Free PMC article. No abstract available.

4

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

Bernal S, Calaf M, Garcia-Hoyos M, Garcia-Sandoval B, Rosell J, Adan A, Ayuso C, Baiget M. Bernal S, et al. J Med Genet. 2003 Jul;40(7):e89. doi: 10.1136/jmg.40.7.e89. J Med Genet. 2003. PMID: 12843338 Free PMC article. No abstract available.

5

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

Bernal S, Medà C, Solans T, Ayuso C, Garcia-Sandoval B, Valverde D, Del Rio E, Baiget M. Bernal S, et al. Clin Genet. 2005 Sep;68(3):204-14. doi: 10.1111/j.1399-0004.2005.00481.x. Clin Genet. 2005. PMID: 16098008

6

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: bernal s. Mol Vis. 2006 Aug 11;12:902-8. Mol Vis. 2006. PMID: 16917483 Free article.

7

Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.

Stenirri S, Battistella S, Soriani N, Bernal S, Baiget M, Ferrari M, Cremonesi L. Stenirri S, et al. Among authors: bernal s. Eur J Ophthalmol. 2007 Sep-Oct;17(5):749-54. doi: 10.1177/112067210701700510. Eur J Ophthalmol. 2007. PMID: 17932850

8

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C, Baiget M. Bernal S, et al. Clin Genet. 2008 Apr;73(4):360-6. doi: 10.1111/j.1399-0004.2008.00963.x. Epub 2008 Feb 20. Clin Genet. 2008. PMID: 18294254

9

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: bernal s. Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3. Hum Genet. 2009. PMID: 19050931

10

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM. Jaijo T, et al. Among authors: bernal s. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13. Invest Ophthalmol Vis Sci. 2010. PMID: 19683999

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