Dryja TP - Search Results

1

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. McLaughlin ME, et al. Among authors: dryja tp. Nat Genet. 1993 Jun;4(2):130-4. doi: 10.1038/ng0693-130. Nat Genet. 1993. PMID: 8394174

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

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS. Dryja TP, et al. Proc Natl Acad Sci U S A. 2005 Mar 29;102(13):4884-9. doi: 10.1073/pnas.0501233102. Epub 2005 Mar 21. Proc Natl Acad Sci U S A. 2005. PMID: 15781871 Free PMC article.

10

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

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