Dryja TP - Search Results

1

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. Among authors: dryja tp. 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.

2

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. McGee TL, et al. Among authors: dryja tp. J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27. J Med Genet. 2010. PMID: 20507924 Free PMC article.

3

Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation.

Hartong DT, McGee TL, Sandberg MA, Berson EL, Asselbergs FW, van der Harst P, De Vivo I, Dryja TP. Hartong DT, et al. Among authors: dryja tp. Mol Vis. 2009;15:592-7. Epub 2009 Mar 27. Mol Vis. 2009. PMID: 19325938 Free PMC article.

4

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP. Thiagalingam S, et al. Among authors: dryja tp. Ophthalmic Genet. 2007 Sep;28(3):135-42. doi: 10.1080/13816810701503681. Ophthalmic Genet. 2007. PMID: 17896311

5

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.

Rivolta C, Berson EL, Dryja TP. Rivolta C, et al. Among authors: dryja tp. Mol Vis. 2006 Dec 5;12:1511-5. Mol Vis. 2006. PMID: 17167409

6

A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.

Mylvaganam GH, McGee TL, Berson EL, Dryja TP. Mylvaganam GH, et al. Among authors: dryja tp. Mol Vis. 2006 Dec 4;12:1496-8. Mol Vis. 2006. PMID: 17167406

7

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. Among authors: dryja tp. Hum Mutat. 2006 Jul;27(7):644-53. doi: 10.1002/humu.20325. Hum Mutat. 2006. PMID: 16708387

8

Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.

Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M. Schatz P, et al. Among authors: dryja tp. Ophthalmic Genet. 2005 Sep;26(3):119-24. doi: 10.1080/13816810500229090. Ophthalmic Genet. 2005. PMID: 16272056

9

Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.

Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP. Wada Y, et al. Among authors: dryja tp. Invest Ophthalmol Vis Sci. 2005 May;46(5):1735-41. doi: 10.1167/iovs.04-1197. Invest Ophthalmol Vis Sci. 2005. PMID: 15851576

10

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.

Sweeney MO, McGee TL, Berson EL, Dryja TP. Sweeney MO, et al. Among authors: dryja tp. Mol Vis. 2007 Apr 5;13:588-93. Mol Vis. 2007. PMID: 17438524 Free PMC article.

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