Nájera C - 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: najera c. Ophthalmic Genet. 2000 Jun;21(2):123-8. Ophthalmic Genet. 2000. PMID: 10916187

2

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

Nájera C, Beneyto M, Blanca J, Aller E, Fontcuberta A, Millán JM, Ayuso C. Nájera C, et al. Hum Mutat. 2002 Jul;20(1):76-7. doi: 10.1002/humu.9042. Hum Mutat. 2002. PMID: 12112664

3

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.

Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J. Aller E, et al. Among authors: najera c. Ophthalmic Genet. 2007 Sep;28(3):151-5. doi: 10.1080/13816810701537374. Ophthalmic Genet. 2007. PMID: 17896313

4

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: najera c. 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

5

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.

Millán JM, Martínez F, Vilela C, Beneyto M, Prieto F, Nájera C. Millán JM, et al. Among authors: najera c. Hum Genet. 1995 Aug;96(2):216-8. doi: 10.1007/BF00207382. Hum Genet. 1995. PMID: 7635473

6

Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.

Ayuso C, Garcia-Sandoval B, Najera C, Valverde D, Carballo M, Antiñolo G. Ayuso C, et al. Among authors: najera c. Clin Genet. 1995 Sep;48(3):120-2. Clin Genet. 1995. PMID: 8556816

7

Clinical and genetic aspects of two Spanish families with autosomal dominant retinitis pigmentosa (ADRP).

Vilela C, Beneyto M, Bosch R, Millan JM, Marco M, Vallet M, Alonso L, Tormos I, Najera C, Valls B, Paricio N, Prieto F. Vilela C, et al. Among authors: najera c. Ophthalmic Genet. 1996 Mar;17(1):29-33. doi: 10.3109/13816819609057866. Ophthalmic Genet. 1996. PMID: 8740695

8

Linkage analysis in Usher syndrome type I (USH1) families from Spain.

Espinós C, Nájera C, Millán JM, Ayuso C, Baiget M, Pérez-Garrigues H, Rodrigo O, Vilela C, Beneyto M. Espinós C, et al. Among authors: najera c. J Med Genet. 1998 May;35(5):391-8. doi: 10.1136/jmg.35.5.391. J Med Genet. 1998. PMID: 9610802 Free PMC article.

9

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.

Espinós C, Millán JM, Sánchez F, Beneyto M, Nájera C. Espinós C, et al. Among authors: najera c. Hum Genet. 1998 Jun;102(6):691-4. doi: 10.1007/s004390050763. Hum Genet. 1998. PMID: 9703432

10

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib.

Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, García-Sandoval B, Ayuso C, Nájera C, Beneyto M. Cuevas JM, et al. Among authors: najera c. Mol Cell Probes. 1998 Dec;12(6):417-20. doi: 10.1006/mcpr.1998.0202. Mol Cell Probes. 1998. PMID: 9843659

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