Gamundi MJ - Search Results

1

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: gamundi mj. Mol Vis. 2013;19:654-64. Epub 2013 Mar 21. Mol Vis. 2013. PMID: 23559859 Free PMC article.

2

[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)].

Millá E, Maseras M, Martínez-Gimeno M, Gamundi MJ, Assaf H, Esmerado C, Carballo M; Grupo Multicéntrico Español de Retinosis Pigmentaria. Millá E, et al. Among authors: gamundi mj. Arch Soc Esp Oftalmol. 2002 Sep;77(9):481-4. Arch Soc Esp Oftalmol. 2002. PMID: 12221539 Spanish.

3

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: gamundi mj. Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. doi: 10.1167/iovs.02-0871. Invest Ophthalmol Vis Sci. 2003. PMID: 12714658

4

De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.

Hernan I, Roig I, Martin B, Gamundi MJ, Martinez-Gimeno M, Carballo M. Hernan I, et al. Among authors: gamundi mj. Clin Genet. 2004 Jul;66(1):58-62. doi: 10.1111/j.0009-9163.2004.00266.x. Clin Genet. 2004. PMID: 15200509

5

Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation.

Carballo M, Roig I, Aguilar F, Pol MA, Gamundi MJ, Hernan I, Martinez-Gimeno M. Carballo M, et al. Among authors: gamundi mj. Am J Med Genet A. 2005 Feb 1;132A(4):361-4. doi: 10.1002/ajmg.a.30388. Am J Med Genet A. 2005. PMID: 15742474

6

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. Mol Vis. 2005 Nov 2;11:922-8. Mol Vis. 2005. PMID: 16280978 Free article.

7

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. BMC Med Genet. 2006 Apr 5;7:35. doi: 10.1186/1471-2350-7-35. BMC Med Genet. 2006. PMID: 16597330 Free PMC article.

8

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: gamundi mj. Mol Vis. 2007 Apr 27;13:639-48. Mol Vis. 2007. PMID: 17515884 Free PMC article.

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

10

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. Among authors: gamundi mj. 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

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