Espinós 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: espinos c. Ophthalmic Genet. 2000 Jun;21(2):123-8. Ophthalmic Genet. 2000. PMID: 10916187

2

Polymorphism of alcohol dehydrogenase genes in alcoholic and nonalcoholic individuals from Valencia (Spain).

Espinós C, Sánchez F, Ramírez C, Juan F, Nájera C. Espinós C, et al. Hereditas. 1997;126(3):247-53. doi: 10.1111/j.1601-5223.1997.00247.x. Hereditas. 1997. PMID: 9350139 Free article.

3

[Genetic research on Usher's syndrome in Spain].

Espinós C, Millán JM. Espinós C, et al. Med Clin (Barc). 1998 Mar 14;110(9):340-1. Med Clin (Barc). 1998. PMID: 9567267 Spanish. No abstract available.

4

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. 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.

5

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. Hum Genet. 1998 Jun;102(6):691-4. doi: 10.1007/s004390050763. Hum Genet. 1998. PMID: 9703432

6

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: espinos c. Mol Cell Probes. 1998 Dec;12(6):417-20. doi: 10.1006/mcpr.1998.0202. Mol Cell Probes. 1998. PMID: 9843659

7

[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].

Espinós C, Pérez-Garrigues H, Beneyto M, Vilela C, Rodrigo O, Nájera C. Espinós C, et al. An Otorrinolaringol Ibero Am. 1999;26(1):83-95. An Otorrinolaringol Ibero Am. 1999. PMID: 10091368 Review. Spanish.

8

Identification of three novel mutations in the MYO7A gene.

Cuevas JM, Espinós C, Millán JM, Sánchez F, Trujillo MJ, Ayuso C, Beneyto M, Nájera C. Cuevas JM, et al. Among authors: espinos c. Hum Mutat. 1999 Aug 19;14(2):181. doi: 10.1002/(SICI)1098-1004(1999)14:2<181::AID-HUMU11>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10447383

9

Epidemiology of Usher syndrome in Valencia and Spain.

Espinós C, Millán JM, Beneyto M, Nájera C. Espinós C, et al. Community Genet. 1998;1(4):223-8. doi: 10.1159/000016167. Community Genet. 1998. PMID: 15178965

10

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F. Claramunt R, et al. Among authors: espinos c. J Med Genet. 2005 Apr;42(4):358-65. doi: 10.1136/jmg.2004.022178. J Med Genet. 2005. PMID: 15805163 Free PMC article. No abstract available.

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