Najera C - Search Results

1

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

2

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

3

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.

4

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

5

Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online.

Trujillo MJ, Millán JM, Nájera C, Beneyto M, García-Sandoval B, Rodriguez de Alba M, Sanz R, Ayuso C. Trujillo MJ, et al. Among authors: najera c. Hum Mutat. 1998;12(3):218. Hum Mutat. 1998. PMID: 10660337

6

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM. Aller E, et al. Among authors: najera c. J Med Genet. 2006 Nov;43(11):e55. doi: 10.1136/jmg.2006.041764. J Med Genet. 2006. PMID: 17085681 Free PMC article.

7

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM. Jaijo T, et al. Among authors: najera c. Hum Mutat. 2006 Mar;27(3):290-1. doi: 10.1002/humu.9404. Hum Mutat. 2006. PMID: 16470552

8

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

9

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

10

Functional analysis of splicing mutations in MYO7A and USH2A genes.

Jaijo T, Aller E, Aparisi MJ, García-García G, Hernan I, Gamundi MJ, Nájera C, Carballo M, Millán JM. Jaijo T, et al. Among authors: najera c. Clin Genet. 2011 Mar;79(3):282-8. doi: 10.1111/j.1399-0004.2010.01454.x. Clin Genet. 2011. PMID: 20497194

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

151 results

Search Page

Filters