Ayuso C - Search Results

1

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

Tam LC, Kiang AS, Kennan A, Kenna PF, Chadderton N, Ader M, Palfi A, Aherne A, Ayuso C, Campbell M, Reynolds A, McKee A, Humphries MM, Farrar GJ, Humphries P. Tam LC, et al. Among authors: ayuso c. Hum Mol Genet. 2008 Jul 15;17(14):2084-100. doi: 10.1093/hmg/ddn107. Epub 2008 Apr 1. Hum Mol Genet. 2008. PMID: 18385099

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

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.

Jordan SA, Farrar GJ, Kenna P, Humphries MM, Sheils DM, Kumar-Singh R, Sharp EM, Soriano N, Ayuso C, Benitez J, et al. Jordan SA, et al. Among authors: ayuso c. Nat Genet. 1993 May;4(1):54-8. doi: 10.1038/ng0593-54. Nat Genet. 1993. PMID: 8513324

4

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

5

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

6

A novel Asp380Ala mutation in the GLC1A/myocilin gene in a family with juvenile onset primary open angle glaucoma.

Kennan AM, Mansergh FC, Fingert JH, Clark T, Ayuso C, Kenna PF, Humphries P, Farrar GJ. Kennan AM, et al. Among authors: ayuso c. J Med Genet. 1998 Nov;35(11):957-60. doi: 10.1136/jmg.35.11.957. J Med Genet. 1998. PMID: 9832047 Free PMC article.

7

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.

Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P. Kennan A, et al. Among authors: ayuso c. Hum Mol Genet. 2002 Mar 1;11(5):547-57. doi: 10.1093/hmg/11.5.547. Hum Mol Genet. 2002. PMID: 11875049

8

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

Aherne A, Kennan A, Kenna PF, McNally N, Lloyd DG, Alberts IL, Kiang AS, Humphries MM, Ayuso C, Engel PC, Gu JJ, Mitchell BS, Farrar GJ, Humphries P. Aherne A, et al. Among authors: ayuso c. Hum Mol Genet. 2004 Mar 15;13(6):641-50. doi: 10.1093/hmg/ddh061. Hum Mol Genet. 2004. PMID: 14981049

9

Gene symbol: CRB1. Disease: early onset retinitis pigmentosa.

Vallespin E, Riveiro-Alvarez R, Aguirre-Lamban J, Cantalapiedra D, Tapias I, Garcia-Sandoval B, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Among authors: ayuso c. Hum Genet. 2006 Jul;119(6):681. Hum Genet. 2006. PMID: 17128490 No abstract available.

10

Novel human pathological mutations. Gene symbol: GUCY2D. Disease: early onset retinitis pigmentosa.

Avila-Fernandez A, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Avila-Fernandez A, et al. Among authors: ayuso c. Hum Genet. 2007 Jun;121(5):650-1. Hum Genet. 2007. PMID: 17879450 No abstract available.

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