Ayuso C - Search Results

1

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).

Vallespin E, Avila-Fernandez A, Almoguera B, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Among authors: ayuso c. Hum Genet. 2010 Jan;127(1):118. Hum Genet. 2010. PMID: 20108395 No abstract available.

2

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

3

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma.

González-González MC, García-Hoyos M, Trujillo MJ, Rodríguez de Alba M, Lorda-Sánchez I, Díaz-Recasens J, Gallardo E, Ayuso C, Ramos C. González-González MC, et al. Among authors: ayuso c. Prenat Diagn. 2002 Oct;22(10):946-8. doi: 10.1002/pd.439. Prenat Diagn. 2002. PMID: 12378583

4

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

González-González MC, Trujillo MJ, Rodríguez de Alba M, García-Hoyos M, Lorda-Sánchez I, Díaz-Recasens J, Ayuso C, Ramos C. González-González MC, et al. Among authors: ayuso c. Prenat Diagn. 2003 Mar;23(3):232-4. doi: 10.1002/pd.570. Prenat Diagn. 2003. PMID: 12627425

5

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.

Bernal S, Calaf M, Garcia-Hoyos M, Garcia-Sandoval B, Rosell J, Adan A, Ayuso C, Baiget M. Bernal S, et al. Among authors: ayuso c. J Med Genet. 2003 Jul;40(7):e89. doi: 10.1136/jmg.40.7.e89. J Med Genet. 2003. PMID: 12843338 Free PMC article. No abstract available.

6

Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism.

Lorda-Sanchez I, Trujillo MJ, Gomez-Garre P, de Alba MR, Gonzalez-Gonzalez C, García-Hoyos M, Ayuso C, Ramos C. Lorda-Sanchez I, et al. Among authors: ayuso c. Am J Med Genet A. 2003 Aug 15;121A(1):20-4. doi: 10.1002/ajmg.a.10197. Am J Med Genet A. 2003. PMID: 12900896

7

Gene symbol: CFTR. Disease: Cystic fibrosis.

Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C. Trujillo-Tiebas MJ, et al. Among authors: ayuso c. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046061 No abstract available.

8

Evaluation of SFRP1 as a candidate for human retinal dystrophies.

Garcia-Hoyos M, Cantalapiedra D, Arroyo C, Esteve P, Rodríguez J, Riveiro R, Trujillo MJ, Ramos C, Bovolenta P, Ayuso C. Garcia-Hoyos M, et al. Among authors: ayuso c. Mol Vis. 2004 Jun 28;10:426-31. Mol Vis. 2004. PMID: 15235574 Free article.

9

Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience.

González-González C, Garcia-Hoyos M, Trujillo-Tiebas MJ, Lorda-Sanchez I, de Alba MR, Infantes F, Gallego J, Diaz-Recasens J, Ayuso C, Ramos C. González-González C, et al. Among authors: ayuso c. J Histochem Cytochem. 2005 Mar;53(3):307-14. doi: 10.1369/jhc.4A6400.2005. J Histochem Cytochem. 2005. PMID: 15750008

10

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages.

Diego-Alvarez D, Garcia-Hoyos M, Trujillo MJ, Gonzalez-Gonzalez C, Rodriguez de Alba M, Ayuso C, Ramos-Corrales C, Lorda-Sanchez I. Diego-Alvarez D, et al. Among authors: ayuso c. Hum Reprod. 2005 May;20(5):1235-43. doi: 10.1093/humrep/deh781. Epub 2005 Mar 10. Hum Reprod. 2005. PMID: 15760965

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