Gimenez A - Search Results

1

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: gimenez a. 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.

2

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: gimenez a. 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.

3

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: gimenez a. Ophthalmic Genet. 2000 Dec;21(4):251-6. Ophthalmic Genet. 2000. PMID: 11135497

4

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: gimenez a. 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.

5

Gene symbol: RPGR. Disease: Retinitis Pigmentosa.

Giménez A, Riveiro R, Trujillo-Tiebas MJ, Aguirre J, Avila A, García-Hoyos M, Ayuso C. Giménez A, et al. Hum Genet. 2008 Oct;124(3):303. Hum Genet. 2008. PMID: 18846630 No abstract available.

6

Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.

Blanco-Kelly F, García-Hoyos M, Cortón M, Avila-Fernández A, Riveiro-Álvarez R, Giménez A, Hernan I, Carballo M, Ayuso C. Blanco-Kelly F, et al. Among authors: gimenez a. Mol Vis. 2012;18:1478-83. Epub 2012 Jun 5. Mol Vis. 2012. PMID: 22736939 Free PMC article.

7

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.

Fernandez-San Jose P, Blanco-Kelly F, Corton M, Trujillo-Tiebas MJ, Gimenez A, Avila-Fernandez A, Garcia-Sandoval B, Lopez-Molina MI, Hernan I, Carballo M, Riveiro-Alvarez R, Ayuso C. Fernandez-San Jose P, et al. Among authors: gimenez a. Acta Ophthalmol. 2015 Feb;93(1):e38-44. doi: 10.1111/aos.12486. Epub 2014 Nov 18. Acta Ophthalmol. 2015. PMID: 25408095 Free article.

8

Gene symbol: NDP. Disease: Norrie disease.

Riveiro-Alvarez R, Trujillo MJ, Gimenez A, Cantalapiedra D, Vallespin E, Villaverde C, Ayuso C. Riveiro-Alvarez R, et al. Among authors: gimenez a. Hum Genet. 2006 Jul;119(6):675. Hum Genet. 2006. PMID: 17128466 No abstract available.

9

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: gimenez a. Hum Genet. 2007 Jun;121(5):650-1. Hum Genet. 2007. PMID: 17879450 No abstract available.

10

Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.

Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Among authors: gimenez a. Hum Genet. 2007 Sep;122(2):212. Hum Genet. 2007. PMID: 18386368 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

482 results

Search Page

Filters