Hernán I - Search Results

1

Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.

Milla E, Laguna J, Alforja MS, Pascual B, Gamundi MJ, Borràs E, Hernán I, Muniesa MJ, Pazos M, Duch S, Carballo M, Jodar M; EMEIGG group. Milla E, et al. Among authors: hernan i. PLoS One. 2024 Jan 19;19(1):e0282133. doi: 10.1371/journal.pone.0282133. eCollection 2024. PLoS One. 2024. PMID: 38241218 Free PMC article.

2

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

Hernan I, Borràs E, de Sousa Dias M, Gamundi MJ, Mañé B, Llort G, Agúndez JA, Blanca M, Carballo M. Hernan I, et al. J Mol Diagn. 2012 May-Jun;14(3):286-93. doi: 10.1016/j.jmoldx.2012.01.013. Epub 2012 Mar 16. J Mol Diagn. 2012. PMID: 22426013 Free article.

3

Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.

de Sousa Dias M, Hernan I, Pascual B, Borràs E, Mañé B, Gamundi MJ, Carballo M. de Sousa Dias M, et al. Among authors: hernan i. Mol Vis. 2013;19:654-64. Epub 2013 Mar 21. Mol Vis. 2013. PMID: 23559859 Free PMC article.

4

Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.

Millá E, Hernan I, Gamundi MJ, Martínez-Gimeno M, Carballo M. Millá E, et al. Among authors: hernan i. Mol Vis. 2007 Apr 27;13:639-48. Mol Vis. 2007. PMID: 17515884 Free PMC article.

5

Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.

Hernan I, Gamundi MJ, Planas E, Borràs E, Maseras M, Carballo M. Hernan I, et al. Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3723-9. doi: 10.1167/iovs.10-6933. Invest Ophthalmol Vis Sci. 2011. PMID: 21357407

6

New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.

de Sousa Dias M, Hernan I, Delás B, Pascual B, Borràs E, Gamundi MJ, Mañé B, Fernández-San José P, Ayuso C, Carballo M. de Sousa Dias M, et al. Among authors: hernan i. Mol Vis. 2015 Aug 18;21:857-70. eCollection 2015. Mol Vis. 2015. PMID: 26321861 Free PMC article.

7

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

Millá E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M, Gamundi MJ; Spanish Multicenter Glaucoma Group-Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG. Millá E, et al. Among authors: hernan i. Mol Vis. 2013 Aug 4;19:1707-22. Print 2013. Mol Vis. 2013. PMID: 23922489 Free PMC article.

8

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M. Martínez-Gimeno M, et al. Among authors: hernan i. Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. doi: 10.1167/iovs.02-0871. Invest Ophthalmol Vis Sci. 2003. PMID: 12714658

9

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: hernan i. Mol Vis. 2007 Jun 28;13:1031-7. Mol Vis. 2007. PMID: 17653047 Free PMC article.

10

High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.

Borràs E, Dotor E, Arcusa A, Gamundi MJ, Hernan I, de Sousa Dias M, Mañé B, Agúndez JA, Blanca M, Carballo M. Borràs E, et al. Among authors: hernan i. Front Genet. 2013 Jan 17;3:312. doi: 10.3389/fgene.2012.00312. eCollection 2012. Front Genet. 2013. PMID: 23335937 Free PMC article.

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