Ayuso C - Search Results

1

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

2

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo MA, Chivelet P, et al. Bayés M, et al. Among authors: ayuso c. Hum Mutat. 1995;5(3):228-34. doi: 10.1002/humu.1380050307. Hum Mutat. 1995. PMID: 7599633

3

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families.

Bayés M, Valverde D, Balcells S, Grinberg D, Vilageliu L, Benítez J, Ayuso C, Beneyto M, Baiget M, Gonzàlez-Duarte R. Bayés M, et al. Among authors: ayuso c. Hum Genet. 1995 Jul;96(1):89-94. doi: 10.1007/BF00214192. Hum Genet. 1995. PMID: 7607661

4

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

5

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

6

Polymorphic variations in peripherin-RDS gene in the Spanish population.

Trujillo MJ, Ayuso C, Robledo M, Sandoval BG, Ramos C, Benitez J. Trujillo MJ, et al. Among authors: ayuso c. Ann Genet. 1995;38(4):225-7. Ann Genet. 1995. PMID: 8629810

7

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

8

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

9

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.

10

Novel mutations in the TIGR gene in early and late onset open angle glaucoma.

Mansergh FC, Kenna PF, Ayuso C, Kiang AS, Humphries P, Farrar GJ. Mansergh FC, et al. Among authors: ayuso c. Hum Mutat. 1998;11(3):244-51. doi: 10.1002/(SICI)1098-1004(1998)11:3<244::AID-HUMU10>3.0.CO;2-Z. Hum Mutat. 1998. PMID: 9521427

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