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Items: 1 to 20 of 317

1.
Abnormal electroretinogram associated with developmental brain anomalies.
G W Cibis, K M Fitzgerald
Trans Am Ophthalmol Soc. 1995; 93: 147–161. doi: 10.1016/s0002-9394(14)70553-7
PMCID:
PMC1312055
SummaryPage BrowsePDF–1.7M
2.
Abnormal Electroretinogram after Kir7.1 Channel Suppression Suggests Role in Retinal Electrophysiology
Pawan K. Shahi, Xinling Liu, Bryce Aul, Andrea Moyer, Akshita Pattnaik, Jerod Denton, De-Ann M. Pillers, Bikash R. Pattnaik
Sci Rep. 2017; 7: 10651. Published online 2017 Sep 6. doi: 10.1038/s41598-017-11034-1
PMCID:
PMC5587531
AbstractArticlePDF–3.9M
3.
The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort
Richard Sather, III, Jacie Ihinger, Michael Simmons, Glenn P. Lobo, Sandra R. Montezuma
Int J Mol Sci. 2024 Jan; 25(2): 1253. Published online 2024 Jan 19. doi: 10.3390/ijms25021253
PMCID:
PMC10816538
AbstractArticlePDF–3.7M
4.
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
V C Sheffield, G A Fishman, J S Beck, A E Kimura, E M Stone
Am J Hum Genet. 1991 Oct; 49(4): 699–706.
PMCID:
PMC1683182
SummaryPage BrowsePDF–1.6M
5.
ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy
K. Fitzgerald, G. Cibis, A. H. Gettel, R. Rinaldi, D. Harris, R. White
J Med Genet. 1999 Apr; 36(4): 316–322.
PMCID:
PMC1734342
SummaryPDF–125K
6.
The negative ERG is not synonymous with nightblindness.
G W Cibis, K M Fitzgerald
Trans Am Ophthalmol Soc. 2001; 99: 171–176.
PMCID:
PMC1359007
SummaryPDF–103K
7.
Transduction of Photoreceptors With Equine Infectious Anemia Virus Lentiviral Vectors: Safety and Biodistribution of StarGen for Stargardt Disease
Katie Binley, Peter Widdowson, Julie Loader, Michelle Kelleher, Sharifah Iqball, Georgina Ferrige, Jackie de Belin, Marie Carlucci, Diana Angell-Manning, Felicity Hurst, Scott Ellis, James Miskin, Alcides Fernandes, Paul Wong, Rando Allikmets, Christopher Bergstrom, Thomas Aaberg, Jiong Yan, Jian Kong, Peter Gouras, Annick Prefontaine, Mark Vezina, Martin Bussieres, Stuart Naylor, Kyriacos A. Mitrophanous
Invest Ophthalmol Vis Sci. 2013 Jun; 54(6): 4061–4071. Published online 2013 Jun 12. doi: 10.1167/iovs.13-11871
PMCID:
PMC3681475
AbstractArticlePDF–889K
8.
The Role of Carcinine in Signaling at the Drosophila Photoreceptor Synapse
Brendan A Gavin, Susan E Arruda, Patrick J Dolph
PLoS Genet. 2007 Dec; 3(12): e206. Prepublished online 2007 Oct 8. Published online 2007 Dec 7. doi: 10.1371/journal.pgen.0030206
PMCID:
PMC2134947
AbstractArticlePDF–329K
9.
Clinical Phenotypes and Prognostic Full-Field Electroretinographic Findings in Stargardt Disease
SARWAR ZAHID, THIRAN JAYASUNDERA, WILLIAM RHOADES, KARI BRANHAM, NAHEED KHAN, LESLIE M. NIZIOL, DAVID C. MUSCH, JOHN R. HECKENLIVELY
Am J Ophthalmol. Author manuscript; available in PMC 2015 Jul 7.
Published in final edited form as: Am J Ophthalmol. 2013 Mar; 155(3): 465–473.e3. Published online 2012 Dec 5. doi: 10.1016/j.ajo.2012.09.011
PMCID:
PMC4494104
AbstractArticlePDF–583K
10.
Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa
Nitza Goldenberg-Cohen, Eyal Banin, Yael Zalzstein, Ben Cohen, Ygal Rotenstreich, Leah Rizel, Lina Basel-Vanagaite, Tamar Ben-Yosef
Mol Vis. 2013; 19: 1565–1571. Published online 2013 Jul 20.
PMCID:
PMC3718492
AbstractArticlePDF–917K
11.
Interpretation of the mouse electroretinogram
Lawrence H. Pinto, Brandon Invergo, Kazuhiro Shimomura, Joseph S. Takahashi, John B. Troy
Doc Ophthalmol. Author manuscript; available in PMC 2013 Sep 30.
Published in final edited form as: Doc Ophthalmol. 2007 Nov; 115(3): 127–136. Published online 2007 Jul 17. doi: 10.1007/s10633-007-9064-y
PMCID:
PMC3786689
AbstractArticlePDF–329K
12.
The zebrafish pinball wizard gene encodes WRB, a tail‐anchored‐protein receptor essential for inner‐ear hair cells and retinal photoreceptors
Shuh‐Yow Lin, Melissa A. Vollrath, Sara Mangosing, Jun Shen, Elena Cardenas, David P. Corey
J Physiol. 2016 Feb 15; 594(4): 895–914. Published online 2015 Dec 28. doi: 10.1113/JP271437
PMCID:
PMC4753259
AbstractArticlePDF–1.6M
13.
Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography
Wadih M. Zein, Benedetto Falsini, Ekaterina T. Tsilou, Amy E. Turriff, Julie M. Schultz, Thomas B. Friedman, Carmen C. Brewer, Christopher K. Zalewski, Kelly A. King, Julie A. Muskett, Atteeq U. Rehman, Robert J. Morell, Andrew J. Griffith, Paul A. Sieving
Invest Ophthalmol Vis Sci. 2015 Jan; 56(1): 107–114. Published online 2015 Jan 6. doi: 10.1167/iovs.14-15355
PMCID:
PMC4288141
AbstractArticlePDF–695K
14.
Correlation between electroretinogram findings and molecular analysis in the Duchenne muscular dystrophy phenotype.
I De Becker, D C Riddell, J M Dooley, F Tremblay
Br J Ophthalmol. 1994 Sep; 78(9): 719–722. doi: 10.1136/bjo.78.9.719
PMCID:
PMC504913
SummaryPage BrowsePDF–644K
15.
Electroretinographic features of the retinopathy, globe enlarged (rge) chick phenotype
Fabiano Montiani-Ferreira, Gillian C. Shaw, Andrew M. Geller, Simon M. Petersen-Jones
Mol Vis. 2007; 13: 553–565. Published online 2007 Apr 4.
PMCID:
PMC2652020
AbstractArticlePDF–704K
16.
Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease
Mary Luz Uribe, Carmen Haro, María Paz Ventero, Laura Campello, Jesús Cruces, José Martín-Nieto
Mol Vis. 2016; 22: 658–673. Published online 2016 Jun 16.
PMCID:
PMC4911909
AbstractArticlePDF–4.5M
17.
Mammalian Homolog of Drosophila retinal degeneration B Rescues the Mutant Fly Phenotype
Jinghua T. Chang, Scott Milligan, Yuanyuan Li, Christina E. Chew, Janey Wiggs, Neal G. Copeland, Nancy A. Jenkins, Peter A. Campochiaro, David R. Hyde, Donald J. Zack
J Neurosci. 1997 Aug 1; 17(15): 5881–5890. doi: 10.1523/JNEUROSCI.17-15-05881.1997
PMCID:
PMC6573195
AbstractArticlePDF–797K
18.
Impaired Ca2+ Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells
Valerio Marino, Giuditta Dal Cortivo, Paolo Enrico Maltese, Giorgio Placidi, Elisa De Siena, Benedetto Falsini, Matteo Bertelli, Daniele Dell’Orco
Int J Mol Sci. 2021 Apr; 22(8): 4030. Published online 2021 Apr 14. doi: 10.3390/ijms22084030
PMCID:
PMC8070792
AbstractArticlePDF–4.5M
19.
SLC7A14 linked to autosomal recessive retinitis pigmentosa
Zi-Bing Jin, Xiu-Feng Huang, Ji-Neng Lv, Lue Xiang, Dong-Qing Li, Jiangfei Chen, Changjiang Huang, Jinyu Wu, Fan Lu, Jia Qu
Nat Commun. 2014 Mar 27; 5: 3517. Published online 2014 Mar 27. doi: 10.1038/ncomms4517
PMCID:
PMC3974215
AbstractArticlePDF–1.6M
20.
Severe Neurologic Impairment in Mice with Targeted Disruption of the Electrogenic Sodium Bicarbonate Cotransporter NBCe2 (Slc4a5 Gene)
Liyo Kao, Lisa M. Kurtz, Xuesi Shao, Marios C. Papadopoulos, Li Liu, Dean Bok, Steven Nusinowitz, Bryan Chen, Salvatore L. Stella, Mark Andre, Josh Weinreb, Serena S. Luong, Natik Piri, Jacky M. K. Kwong, Debra Newman, Ira Kurtz
J Biol Chem. 2011 Sep 16; 286(37): 32563–32574. Published online 2011 Jun 24. doi: 10.1074/jbc.M111.249961
PMCID:
PMC3173174
AbstractArticlePDF–3.0M

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