Nájera C - Search Results

1

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.

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

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.

Aller E, Nájera C, Millán JM, Oltra JS, Pérez-Garrigues H, Vilela C, Navea A, Beneyto M. Aller E, et al. Among authors: najera c. Eur J Hum Genet. 2004 May;12(5):407-10. doi: 10.1038/sj.ejhg.5201138. Eur J Hum Genet. 2004. PMID: 14970843

4

[Usher syndrome: an example of genetic heterogeneity].

Nájera C, Beneyto M, Millán JM. Nájera C, et al. Med Clin (Barc). 2005 Oct 1;125(11):423-7. doi: 10.1157/13079387. Med Clin (Barc). 2005. PMID: 16216190 Review. Spanish.

5

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

6

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

7

Epidemiology of retinitis pigmentosa in the Valencian community (Spain).

Nájera C, Millán JM, Beneyto M, Prieto F. Nájera C, et al. Genet Epidemiol. 1995;12(1):37-46. doi: 10.1002/gepi.1370120105. Genet Epidemiol. 1995. PMID: 7713399 Review.

8

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

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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