Ayuso C - Search Results

1

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C. Perez-Carro R, et al. Among authors: ayuso c. Sci Rep. 2016 Jan 25;6:19531. doi: 10.1038/srep19531. Sci Rep. 2016. PMID: 26806561 Free PMC article.

2

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. Clin Genet. 1995 Sep;48(3):120-2. Clin Genet. 1995. PMID: 8556816

3

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients.

Ayuso C, Trujillo MJ, Robledo M, Ramos C, Benitez J, Martín-Osés F, del Rio T, García-Sandoval B. Ayuso C, et al. Hum Genet. 1996 Jul;98(1):51-4. doi: 10.1007/s004390050158. Hum Genet. 1996. PMID: 8682506

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. Among authors: ayuso 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.

5

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

6

Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.

Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C. Lorda-Sanchez I, et al. Among authors: ayuso c. Ophthalmic Genet. 1999 Jun;20(2):127-31. doi: 10.1076/opge.20.2.127.2289. Ophthalmic Genet. 1999. PMID: 10420199

7

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: ayuso 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

8

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: ayuso c. Hum Mutat. 1998;12(3):218. Hum Mutat. 1998. PMID: 10660337

9

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

10

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.

Trujillo MJ, Garcia-Sandoval B, Lorda-Sanchez I, Gimenez A, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C. Trujillo MJ, et al. Among authors: ayuso c. Ophthalmic Genet. 2000 Dec;21(4):251-6. Ophthalmic Genet. 2000. PMID: 11135497

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