Ayuso C - Search Results

1

Author Correction: 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 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4. Sci Rep. 2021. PMID: 33972629 Free PMC article. No abstract available.

2

[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.

3

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

4

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

5

[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.

6

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

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

[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

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

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