Ayuso C - Search Results

1

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Among authors: ayuso c. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 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

[DNA markers linked to Huntington's disease (D4S10 and D4S95) in Spanish families: preliminary results].

Benítez J, Ramos C, Fernández E, Ayuso C, Yébenes J. Benítez J, et al. Among authors: ayuso c. Rev Clin Esp. 1992 Apr;190(6):299-301. Rev Clin Esp. 1992. PMID: 1350862 Spanish.

4

Study of the parental origin of sexual aneuploidy in ten families using RFLPs.

Villamar M, Fernandez E, Ayuso C, Ramos C, Benitez J. Villamar M, et al. Among authors: ayuso c. Ann Genet. 1990;33(1):29-31. Ann Genet. 1990. PMID: 1973343

5

Parental origin of chromosomal nondisjunction in a 49,XXXXY male using recombinant-DNA techniques.

Villamar M, Benitez J, Fernández E, Ayuso C, Ramos C. Villamar M, et al. Among authors: ayuso c. Clin Genet. 1989 Sep;36(3):152-5. doi: 10.1111/j.1399-0004.1989.tb03181.x. Clin Genet. 1989. PMID: 2791329

6

[Role of the cytogeneticist in genetic counseling].

Sánchez Cascos A, Ayuso C, Ramos C. Sánchez Cascos A, et al. Among authors: ayuso c. An Esp Pediatr. 1988 Sep;29 Suppl 32:71-3. An Esp Pediatr. 1988. PMID: 3247972 Spanish. No abstract available.

7

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

8

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

9

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

10

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

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