U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 76

1.
An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9
Orly Goldstein, Jason G. Mezey, Adam R. Boyko, Chuan Gao, Wei Wang, Carlos D. Bustamante, Lynne J. Anguish, Julie Ann Jordan, Susan E. Pearce-Kelling, Gustavo D. Aguirre, Gregory M. Acland
Mol Vis. 2010; 16: 1549–1569. Published online 2010 Aug 11.
PMCID:
PMC2925905
AbstractArticlePDF–1.8M
2.
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark
Marianne N. Hove, Kevser Z. Kilic-Biyik, Alana Trotter, Karen Grønskov, Birgit Sander, Michael Larsen, Joseph Carroll, Torben Bech-Hansen, Thomas Rosenberg
Invest Ophthalmol Vis Sci. 2016 Dec; 57(15): 6861–6869. doi: 10.1167/iovs.16-19445
PMCID:
PMC5215230
AbstractArticlePDF–1.1M
3.
A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype
Jan Hauke, Andrea Schild, Antje Neugebauer, Alexandra Lappa, Julia Fricke, Sascha Fauser, Stefanie Rösler, Andrea Pannes, Dirk Zarrinnam, Janine Altmüller, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Eric Hahnen, Bodo B. Beck
PLoS One. 2013; 8(10): e76414. Published online 2013 Oct 4. doi: 10.1371/journal.pone.0076414
PMCID:
PMC3790679
AbstractArticlePDF–1.2M
4.
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum
Rachel M. Huckfeldt, Florin Grigorian, Emily Place, Jason I. Comander, Demetrios Vavvas, Lucy H. Young, Paul Yang, Maria Shurygina, Eric A. Pierce, Mark E. Pennesi
Mol Vis. 2020; 26: 423–433. Published online 2020 Jun 3.
PMCID:
PMC7300197
AbstractArticlePDF–1.0M
5.
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2
Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, Susanne Koch, Verena Schludi, Stefanie Krause, Christina Zeitz, Isabelle Audo, Marie-Elise Lancelot, Christian Hamel, Isabelle Meunier, Markus N. Preising, Christoph Friedburg, Birgit Lorenz, Nawal Zabouri, Silke Haverkamp, Marina Garcia Garrido, Naoyuki Tanimoto, Mathias W. Seeliger, Martin Biel, Christian A. Wahl-Schott
Hum Mol Genet. 2014 Mar 15; 23(6): 1538–1550. Published online 2013 Oct 26. doi: 10.1093/hmg/ddt541
Correction in:
Hum Mol Genet. 2017 Jan 15; 26(2): 466.
PMCID:
PMC3929091
AbstractArticlePDF–2.3M
6.
Identification of Four Novel Variants and Determination of Genotype–Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations
Qing Zhu, Xue Rui, Ya Li, Ya You, Xun-Lun Sheng, Bo Lei
Front Cell Dev Biol. 2021; 9: 634843. Published online 2021 Mar 1. doi: 10.3389/fcell.2021.634843
PMCID:
PMC7957020
AbstractArticlePDF–2.9M
7.
Association between genotype and phenotype in families with mutations in the ABCA4 gene
Ulrika Kjellström
Mol Vis. 2014; 20: 89–104. Published online 2014 Jan 7.
PMCID:
PMC3892680
AbstractArticlePDF–3.7M
8.
Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt’s dystrophy
Shannon M. Conley, Xue Cai, Rasha Makkia, Yalin Wu, Janet R. Sparrow, Muna I. Naash
Biochim Biophys Acta. Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: Biochim Biophys Acta. 2012 Jul; 1822(7): 1169–1179. Published online 2011 Oct 13. doi: 10.1016/j.bbadis.2011.10.007
PMCID:
PMC3351560
AbstractArticlePDF–4.5M
9.
Retinoid Binding Properties of Nucleotide Binding Domain 1 of the Stargardt Disease-associated ATP Binding Cassette (ABC) Transporter, ABCA4
Esther E. Biswas-Fiss, Stephanie Affet, Malissa Ha, Subhasis B. Biswas
J Biol Chem. 2012 Dec 28; 287(53): 44097–44107. Published online 2012 Nov 9. doi: 10.1074/jbc.M112.409623
PMCID:
PMC3531725
AbstractArticlePDF–3.6M
10.
Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes
Li Huang, Qingyan Zhang, Shiqiang Li, Liping Guan, Xueshan Xiao, Jianguo Zhang, Xiaoyun Jia, Wenmin Sun, Zhihong Zhu, Yang Gao, Ye Yin, Panfeng Wang, Xiangming Guo, Jun Wang, Qingjiong Zhang
PLoS One. 2013; 8(6): e65546. Published online 2013 Jun 11. doi: 10.1371/journal.pone.0065546
PMCID:
PMC3679152
AbstractArticlePDF–350K
11.
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
12.
Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
Marta Corton, Koji M. Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta
PLoS One. 2013; 8(6): e65574. Published online 2013 Jun 14. doi: 10.1371/journal.pone.0065574
Correction in:
PLoS One. 2016; 11(3): e0153121.
PMCID:
PMC3683009
AbstractArticlePDF–389K
13.
Outcome of ABCA4 disease-associated alleles in autosomal recessive Retinal Dystrophies: Retrospective analysis in 420 Spanish families
Rosa Riveiro-Alvarez, Miguel-Angel Lopez-Martinez, Jana Zernant, Jana Aguirre-Lamban, Diego Cantalapiedra, Almudena Avila-Fernandez, A. Gimenez, Maria-Isabel Lopez-Molina, Blanca Garcia-Sandoval, Fiona Blanco-Kelly, Marta Corton, Sorina Tatu, Patricia Fernandez-San Jose, Maria-Jose Trujillo-Tiebas, Carmen Ramos, Rando Allikmets, Carmen Ayuso
Ophthalmology. Author manuscript; available in PMC 2014 Nov 1.
Published in final edited form as: Ophthalmology. 2013 Nov; 120(11): 10.1016/j.ophtha.2013.04.002. Published online 2013 Jun 4. doi: 10.1016/j.ophtha.2013.04.002
PMCID:
PMC3808491
AbstractArticlePDF–138K
14.
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
15.
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy
Maria Carolina Ortube, Samuel P Strom, Stanley F Nelson, Steven Nusinowitz, Ariadna Martinez, Michael B Gorin
BMC Med Genet. 2014; 15: 11. Published online 2014 Jan 20. doi: 10.1186/1471-2350-15-11
PMCID:
PMC3905103
AbstractArticlePDF–3.2M
16.
Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing
Xiao Zhang, Xianglian Ge, Wei Shi, Ping Huang, Qingjie Min, Minghan Li, Xinping Yu, Yaming Wu, Guangyu Zhao, Yi Tong, Zi-Bing Jin, Jia Qu, Feng Gu
PLoS One. 2014; 9(4): e95528. Published online 2014 Apr 24. doi: 10.1371/journal.pone.0095528
PMCID:
PMC3999032
AbstractArticlePDF–1.3M
17.
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy
Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G. MacArthur, UCL-Exomes Consortium, Shomi S. Bhattacharya, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Uwe Wolfrum, Andrew R. Webster, Vincent Plagnol
Am J Hum Genet. 2014 May 1; 94(5): 760–769. doi: 10.1016/j.ajhg.2014.04.003
PMCID:
PMC4067560
AbstractArticlePDF–1.7M
18.
Role of the C-Terminus of the Photoreceptor ABCA4 Transporter in Protein Folding, Function and Retinal Degenerative Diseases
Ming Zhong, Laurie L. Molday, Robert S. Molday
J Biol Chem. Author manuscript; available in PMC 2014 Jul 9.
Published in final edited form as: J Biol Chem. 2009 Feb 6; 284(6): 3640–3649. Published online 2008 Dec 4. doi: 10.1074/jbc.M806580200
PMCID:
PMC4090197
AbstractArticlePDF–1.4M
19.
Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss
Akhila Alapati, Kerry Goetz, John Suk, Mili Navani, Amani Al-Tarouti, Thiran Jayasundera, Santa J. Tumminia, Pauline Lee, Radha Ayyagari
Invest Ophthalmol Vis Sci. 2014 Sep; 55(9): 5510–5521. Published online 2014 Sep 2. doi: 10.1167/iovs.14-14359
PMCID:
PMC4152151
AbstractArticlePDF–685K
20.
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy
Rosa Riveiro-Álvarez, Yajing (Angela) Xie, Miguel-Ángel López-Martínez, Tomasz Gambin, Raquel Pérez-Carro, Almudena Ávila-Fernández, María-Isabel López-Molina, Jana Zernant, Shalini Jhangiani, Donna Muzny, Bo Yuan, Eric Boerwinkle, Richard Gibbs, James R. Lupski, Carmen Ayuso, Rando Allikmets
JAMA Ophthalmol. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: JAMA Ophthalmol. 2015 Feb 1; 133(2): 133–139. doi: 10.1001/jamaophthalmol.2014.4266
PMCID:
PMC4351871
AbstractArticlePDF–701K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center