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Items: 1 to 20 of 42

1.
Rod Photoreceptor Temporal Properties in Retinitis Pigmentosa
Yuquan Wen, Kirsten G. Locke, Donald C. Hood, David G. Birch
Exp Eye Res. Author manuscript; available in PMC 2012 Mar 1.
Published in final edited form as: Exp Eye Res. 2011 Mar; 92(3): 202–208. Published online 2011 Jan 8. doi: 10.1016/j.exer.2010.12.014
PMCID:
PMC3057282
AbstractArticlePDF–579K
2.
TNFa knockdown in the retina promotes cone survival in a mouse model of autosomal dominant retinitis pigmentosa
Tapasi Rana, Pravallika Kotla, Roderick Fullard, Marina Gorbatyuk
Biochim Biophys Acta. Author manuscript; available in PMC 2018 Jul 23.
Published in final edited form as: Biochim Biophys Acta. 2017 Jan; 1863(1): 92–102. Published online 2016 Nov 14. doi: 10.1016/j.bbadis.2016.10.008
PMCID:
PMC6056179
AbstractArticlePDF–2.0M
3.
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
Crystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, Gaëlle M Lefèvre, Jean-Pierre Hardelin, Aziz El-Amraoui, Amrit Singh-Estivalet, Saddek Mohand-Saïd, Susanne Kohl, Anne Kurtenbach, Ieva Sliesoraityte, Ditta Zobor, Souad Gherbi, Francesco Testa, Francesca Simonelli, Sandro Banfi, Ana Fakin, Damjan Glavač, Martina Jarc-Vidmar, Andrej Zupan, Saba Battelino, Loreto Martorell Sampol, Maria Antonia Claveria, Jaume Catala Mora, Shzeena Dad, Lisbeth B Møller, Jesus Rodriguez Jorge, Marko Hawlina, Alberto Auricchio, José-Alain Sahel, Sandrine Marlin, Eberhart Zrenner, Isabelle Audo, Christine Petit
Eur J Hum Genet. 2016 Dec; 24(12): 1730–1738. Published online 2016 Jul 27. doi: 10.1038/ejhg.2016.99
PMCID:
PMC5117943
AbstractArticlePDF–2.0M
4.
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho, Ellen B. Richardson, Kelsey A. McFadden, Jason R. Willer, Davut Pehlivan, Pengfei Liu, Igor L. Pediaditakis, Aniko Sabo, Richard Alan Lewis, Eyal Banin, James R. Lupski, Erica E. Davis, Nicholas Katsanis
Am J Hum Genet. 2016 Aug 4; 99(2): 318–336. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2015.04.023
PMCID:
PMC4974085
AbstractArticlePDF–2.3M
5.
Rates of Decline in fdOCT Defined Regions of the Visual Field in Patients with RPGR-mediated X-Linked Retinitis Pigmentosa (XLRP)
David G. Birch, Kirsten G. Locke, Joost Felius, Martin Klein, Dianna K. H. Wheaton, Dennis R. Hoffman, Donald C. Hood
Ophthalmology. Author manuscript; available in PMC 2016 Apr 1.
Published in final edited form as: Ophthalmology. 2015 Apr; 122(4): 833–839. Published online 2014 Dec 31. doi: 10.1016/j.ophtha.2014.11.005
PMCID:
PMC4372456
ArticlePDF–1.7M
6.
Vitritis in Pediatric Genetic Retinal Disorders
Maria Stunkel, Sajag Bhattarai, Andrew Kemerley, Edwin M. Stone, Kai Wang, Robert F. Mullins, Arlene V. Drack
Ophthalmology. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: Ophthalmology. 2015 Jan; 122(1): 192–199. Published online 2014 Sep 10. doi: 10.1016/j.ophtha.2014.07.037
PMCID:
PMC4277925
AbstractArticlePDF–747K
7.
A Comparison of Progressive Loss of the Ellipsoid Zone (EZ) Band in Autosomal Dominant and X-Linked Retinitis Pigmentosa
Cindy X. Cai, Kirsten G. Locke, Rithambara Ramachandran, David G. Birch, Donald C. Hood
Invest Ophthalmol Vis Sci. 2014 Nov; 55(11): 7417–7422. Published online 2014 Nov 19. doi: 10.1167/iovs.14-15013
PMCID:
PMC4238317
AbstractArticlePDF–499K
8.
Alström Syndrome is associated with short stature and reduced GH reserve
S. Romano, P. Maffei, V. Bettini, G. Milan, F. Favaretto, M. Gardiman, J.D. Marshall, N.A. Greggio, G.B. Pozzan, G.B. Collin, J.K. Naggert, R. Bronson, R. Vettor
Clin Endocrinol (Oxf) Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: Clin Endocrinol (Oxf). 2013 Oct; 79(4): 529–536. Published online 2013 Mar 26. doi: 10.1111/cen.12180
PMCID:
PMC3718851
AbstractArticlePDF–3.4M
9.
A Novel Locus for Autosomal Recessive Retinitis Pigmentosa in a Consanguineous Pakistani Family Maps to Chromosome 2p
SHAGUFTA NAZ, S. AMER RIAZUDDIN, LIN LI, MARIAM SHAHID, SAMRA KOUSAR, PAUL A. SIEVING, J. FIELDING HEJTMANCIK, SHEIKH RIAZUDDIN
Am J Ophthalmol. Author manuscript; available in PMC 2012 Jul 18.
Published in final edited form as: Am J Ophthalmol. 2010 May; 149(5): 861–866. Published online 2010 Mar 15. doi: 10.1016/j.ajo.2009.12.034
PMCID:
PMC3399686
AbstractArticlePDF–1.2M
10.
MERRF and Kearns-Sayre overlap syndrome due to the mtDNA m.3291T>C mutation
Valentina Emmanuele, David S. Silvers, Evangelia Sotiriou, Kurenai Tanji, Salvatore DiMauro, Michio Hirano
Muscle Nerve. Author manuscript; available in PMC 2012 Sep 1.
Published in final edited form as: Muscle Nerve. 2011 Sep; 44(3): 448–451. doi: 10.1002/mus.22149
PMCID:
PMC3197731
AbstractArticlePDF–386K
11.
Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss
Madhulatha Pantrangi, Julie Rath, Nicole Kaetterhenry, Kari Branham, Dana Talsness, James L. Weber
Mol Vis. 2024; 30: 49–57. Published online 2024 Feb 19.
PMCID:
PMC10994678
AbstractArticlePDF–529K
12.
Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice
Denise Yan, Kazusaku Kamiya, Xiao Mei Ouyang, Xue Zhong Liu
Int J Exp Pathol. 2011 Feb; 92(1): 66–71. doi: 10.1111/j.1365-2613.2010.00751.x
PMCID:
PMC3052758
AbstractArticlePDF–367K
13.
Genomic Rearrangements of the PRPF31 Gene Account for 2.5% of Autosomal Dominant Retinitis Pigmentosa
Lori S. Sullivan, Sara J. Bowne, C. Robyn Seaman, Susan H. Blanton, Richard A. Lewis, John R. Heckenlively, David G. Birch, Dianna Hughbanks-Wheaton, Stephen P. Daiger
Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Nov 17.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2006 Oct; 47(10): 4579–4588. doi: 10.1167/iovs.06-0440
PMCID:
PMC2778205
AbstractArticlePDF–903K
14.
USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23
Zubair M Ahmed, Saima Riazuddin, Shaheen N Khan, Penelope L Friedman, Sheikh Riazuddin, Thomas B Friedman
Clin Genet. Author manuscript; available in PMC 2009 Apr 27.
Published in final edited form as: Clin Genet. 2009 Jan; 75(1): 86–91. Published online 2008 May 25. doi: 10.1111/j.1399-0004.2008.01038.x
PMCID:
PMC2673543
AbstractArticlePDF–956K
15.
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration
Ann H. Milam, Linda Rose, Artur V. Cideciyan, Mark R. Barakat, Wai-Xing Tang, Nisha Gupta, Tomas S. Aleman, Alan F. Wright, Edwin M. Stone, Val C. Sheffield, Samuel G. Jacobson
Proc Natl Acad Sci U S A. 2002 Jan 8; 99(1): 473–478. Published online 2002 Jan 2. doi: 10.1073/pnas.022533099
PMCID:
PMC117584
AbstractArticlePDF–463K
16.
Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy.
A M Moudy, S D Handran, M P Goldberg, N Ruffin, I Karl, P Kranz-Eble, D C DeVivo, S M Rothman
Proc Natl Acad Sci U S A. 1995 Jan 31; 92(3): 729–733. doi: 10.1073/pnas.92.3.729
PMCID:
PMC42693
SummaryPage BrowsePDF–1.4M
17.
Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration.
N J Colley, J A Cassill, E K Baker, C S Zuker
Proc Natl Acad Sci U S A. 1995 Mar 28; 92(7): 3070–3074. doi: 10.1073/pnas.92.7.3070
PMCID:
PMC42361
SummaryPage BrowsePDF–1.7M
18.
Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.
T Li, W K Franson, J W Gordon, E L Berson, T P Dryja
Proc Natl Acad Sci U S A. 1995 Apr 11; 92(8): 3551–3555. doi: 10.1073/pnas.92.8.3551
PMCID:
PMC42205
SummaryPage BrowsePDF–1.9M
19.
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
M E McLaughlin, T L Ehrhart, E L Berson, T P Dryja
Proc Natl Acad Sci U S A. 1995 Apr 11; 92(8): 3249–3253. doi: 10.1073/pnas.92.8.3249
PMCID:
PMC42143
SummaryPage BrowsePDF–1.2M
20.
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
T P Dryja, J T Finn, Y W Peng, T L McGee, E L Berson, K W Yau
Proc Natl Acad Sci U S A. 1995 Oct 24; 92(22): 10177–10181. doi: 10.1073/pnas.92.22.10177
PMCID:
PMC40759
SummaryPage BrowsePDF–1.3M

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