Ayuso C - Search Results

1

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

Kamenarova K, Corton M, García-Sandoval B, Fernández-San Jose P, Panchev V, Avila-Fernández A, López-Molina MI, Chakarova C, Ayuso C, Bhattacharya SS. Kamenarova K, et al. Among authors: ayuso c. Biomed Res Int. 2013;2013:517570. doi: 10.1155/2013/517570. Epub 2013 Aug 14. Biomed Res Int. 2013. PMID: 24024198 Free PMC article.

2

Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.

Jordan SA, del Rio T, Soriano N, Garcia-Sandoval B, Kenna P, Ayuso C, Benitez J, Humphries P. Jordan SA, et al. Among authors: ayuso c. Hum Mol Genet. 1992 Sep;1(6):411-5. doi: 10.1093/hmg/1.6.411. Hum Mol Genet. 1992. PMID: 1301915

3

Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa.

Reig C, Antich J, Gean E, Garcia-Sandoval B, Ramos C, Ayuso C, Carballo M. Reig C, et al. Among authors: ayuso c. Hum Genet. 1994 Sep;94(3):283-6. doi: 10.1007/BF00208284. Hum Genet. 1994. PMID: 8076945

4

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

5

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

6

G106R rhodopsin mutation is also present in Spanish ADRP patients.

Ayuso C, Reig C, Garcia-Sandoval B, Trujillo MJ, Antiñolo G, Borrego S, Carballo M. Ayuso C, et al. Ophthalmic Genet. 1996 Sep;17(3):95-101. doi: 10.3109/13816819609057111. Ophthalmic Genet. 1996. PMID: 8905849

7

Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.

Valverde D, Baiget M, Seminago R, del Rio E, García-Sandoval B, del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso C. Valverde D, et al. Among authors: ayuso c. Hum Mutat. 1996;8(4):393-4. doi: 10.1002/humu.1380080403. Hum Mutat. 1996. PMID: 8956055 No abstract available.

8

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.

Martínez-Mir A, Bayés M, Vilageliu L, Grinberg D, Ayuso C, del Río T, García-Sandoval B, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S. Martínez-Mir A, et al. Among authors: ayuso c. Genomics. 1997 Feb 15;40(1):142-6. doi: 10.1006/geno.1996.4528. Genomics. 1997. PMID: 9070931 Free article.

9

[The Pro347Leu mutation of the rhodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis].

Trujillo MJ, del Río T, Reig C, Benítez J, García Sandoval B, Carballo M, Ayuso C. Trujillo MJ, et al. Among authors: ayuso c. Med Clin (Barc). 1998 Apr 18;110(13):501-4. Med Clin (Barc). 1998. PMID: 9611733 Spanish.

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: ayuso 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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