Ayuso C - Search Results

1

Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Villaverde C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: ayuso c. Hum Genet. 2007 Jun;121(5):647. Hum Genet. 2007. PMID: 17879437 No abstract available.

2

Somatic stability in chorionic villi samples and other Huntington fetal tissues.

Benitez J, Robledo M, Ramos C, Ayuso C, Astarloa R, Garcia Yébenes J, Brambati B. Benitez J, et al. Among authors: ayuso c. Hum Genet. 1995 Aug;96(2):229-32. doi: 10.1007/BF00207386. Hum Genet. 1995. PMID: 7635477

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

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

5

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.

Miano MG, Testa F, Strazzullo M, Trujillo M, De Bernardo C, Grammatico B, Simonelli F, Mangino M, Torrente I, Ruberto G, Beneyto M, Antinolo G, Rinaldi E, Danesino C, Ventruto V, D'Urso M, Ayuso C, Baiget M, Ciccodicola A. Miano MG, et al. Among authors: ayuso c. Eur J Hum Genet. 1999 Sep;7(6):687-94. doi: 10.1038/sj.ejhg.5200352. Eur J Hum Genet. 1999. PMID: 10482958

6

Three novel mutations (P215L, T289P, and 3811-2 A-->G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families.

Martinez-Gimeno M, Trujillo MJ, Lorda I, Gimenez A, Calvo MT, Ayuso C, Carballo M. Martinez-Gimeno M, et al. Among authors: ayuso c. Hum Mutat. 2000 Jul;16(1):95-6. doi: 10.1002/1098-1004(200007)16:1<95::AID-HUMU31>3.0.CO;2-0. Hum Mutat. 2000. PMID: 10874327 No abstract available.

7

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.

Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C. Lorda-Sanchez IJ, et al. Among authors: ayuso c. Ophthalmic Genet. 2000 Sep;21(3):185-9. Ophthalmic Genet. 2000. PMID: 11035551

8

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

9

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.

Trujillo MJ, Martinez-Gimeno M, Giménez A, Lorda I, Bueno J, García-Sandoval B, Ramos C, Carballo M, Ayuso C. Trujillo MJ, et al. Among authors: ayuso c. Hum Mutat. 2001;17(1):80. doi: 10.1002/1098-1004(2001)17:1<80::AID-HUMU27>3.0.CO;2-G. Hum Mutat. 2001. PMID: 11139263 No abstract available.

10

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M. Bernal S, et al. Among authors: ayuso c. J Med Genet. 2003 Jan;40(1):e8. doi: 10.1136/jmg.40.1.e8. J Med Genet. 2003. PMID: 12525556 Free PMC article. No abstract available.

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