Rivolta C - Search Results

1

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.

Rio Frio T, Civic N, Ransijn A, Beckmann JS, Rivolta C. Rio Frio T, et al. Among authors: rivolta c. Hum Mol Genet. 2008 Oct 15;17(20):3154-65. doi: 10.1093/hmg/ddn212. Epub 2008 Jul 18. Hum Mol Genet. 2008. PMID: 18640990

2

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

Rivolta C, Sweklo EA, Berson EL, Dryja TP. Rivolta C, et al. Am J Hum Genet. 2000 Jun;66(6):1975-8. doi: 10.1086/302926. Epub 2000 Apr 20. Am J Hum Genet. 2000. PMID: 10775529 Free PMC article.

3

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Rivolta C, et al. Hum Mol Genet. 2002 May 15;11(10):1219-27. doi: 10.1093/hmg/11.10.1219. Hum Mol Genet. 2002. PMID: 12015282 Review.

4

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP. Rivolta C, et al. Hum Mutat. 2006 Jul;27(7):644-53. doi: 10.1002/humu.20325. Hum Mutat. 2006. PMID: 16708387

5

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C. Rio Frio T, et al. Among authors: rivolta c. J Clin Invest. 2008 Apr;118(4):1519-31. doi: 10.1172/JCI34211. J Clin Invest. 2008. PMID: 18317597 Free PMC article.

6

PRPF31 alternative splicing and expression in human retina.

Tanackovic G, Rivolta C. Tanackovic G, et al. Among authors: rivolta c. Ophthalmic Genet. 2009 Jun;30(2):76-83. doi: 10.1080/13816810902744621. Ophthalmic Genet. 2009. PMID: 19373678

7

Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia.

Butticaz C, Werge T, Beckmann JS, Cuénod M, Do KQ, Rivolta C. Butticaz C, et al. Among authors: rivolta c. Psychiatr Genet. 2009 Aug;19(4):201-8. doi: 10.1097/YPG.0b013e32832cef21. Psychiatr Genet. 2009. PMID: 19455074

8

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C. Rio Frio T, et al. Among authors: rivolta c. Hum Mutat. 2009 Sep;30(9):1340-7. doi: 10.1002/humu.21071. Hum Mutat. 2009. PMID: 19618371 Free PMC article.

9

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa.

Rio Frio T, Panek S, Iseli C, Di Gioia SA, Kumar A, Gal A, Rivolta C. Rio Frio T, et al. Among authors: rivolta c. Mol Vis. 2009 Dec 8;15:2627-33. Mol Vis. 2009. PMID: 20011630 Free PMC article.

10

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C. Langmann T, et al. Among authors: rivolta c. Am J Hum Genet. 2010 Sep 10;87(3):376-81. doi: 10.1016/j.ajhg.2010.07.018. Epub 2010 Aug 12. Am J Hum Genet. 2010. PMID: 20705278 Free PMC article.

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