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Select item 38534091.

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

James A. Poulter, Musallam Al-Araimi, Ivan Conte, Maria M. van Genderen, Eamonn Sheridan, Ian M. Carr, David A. Parry, Mike Shires, Sabrina Carrella, John Bradbury, Kamron Khan, Phillis Lakeman, Panagiotis I. Sergouniotis, Andrew R. Webster, Anthony T. Moore, Bishwanath Pal, Moin D. Mohamed, Anandula Venkataramana, Vedam Ramprasad, Rohit Shetty, Murugan Saktivel, Govindasamy Kumaramanickavel, Alex Tan, David A. Mackey, Alex W. Hewitt, Sandro Banfi, Manir Ali, Chris F. Inglehearn, Carmel Toomes

Am J Hum Genet. 2013 Dec 5; 93(6): 1143–1150. doi: 10.1016/j.ajhg.2013.11.002

PMCID:: PMC3853409

Abstract Article PDF–1.7M

Select item 66971092.

CONVERSATIONS WITH RAY GUILLERY ON ALBINISM: LINKING SIAMESE CAT VISUAL PATHWAY CONNECTIVITY TO MOUSE RETINAL DEVELOPMENT

Carol Mason, Ray Guillery

Eur J Neurosci. Author manuscript; available in PMC 2020 Apr 23.

Published in final edited form as: Eur J Neurosci. 2019 Apr; 49(7): 913–927. Published online 2019 Apr 23. doi: 10.1111/ejn.14396

PMCID:: PMC6697109

Abstract Article PDF–1.3M

Select item 63302413.

Chorioretinal Changes in a Genetically Confirmed Case of Boucher-Neuhäuser Syndrome

Brittany B. DeNaro, Elona Dhrami-Gavazi, David M. Rubaltelli, K. Bailey Freund, Winston Lee, Lawrence A. Yannuzzi, Stephen H. Tsang, Joann J. Kang

Retin Cases Brief Rep. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Retin Cases Brief Rep. 2021 Mar 1; 15(2): 179–184. doi: 10.1097/ICB.0000000000000769

PMCID:: PMC6330241

Abstract Article PDF–1.4M

Select item 62191604.

The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density

Daniel J. Lee, Erica N. Woertz, Alexis Visotcky, Melissa A. Wilk, Heather Heitkotter, Rachel E. Linderman, Sergey Tarima, C. Gail Summers, Brian P. Brooks, Murray H. Brilliant, Bhavna J. Antony, Brandon J. Lujan, Joseph Carroll

Invest Ophthalmol Vis Sci. 2018 Nov; 59(13): 5336–5348. doi: 10.1167/iovs.18-24145

Correction in:: Invest Ophthalmol Vis Sci. 2020 Nov; 61(13): 28.

PMCID:: PMC6219160

Abstract Article PDF–1.2M

Select item 54289035.

GPR143 mutations in Chinese patients with ocular albinism type 1

Xiuhua Jia, Jin Yuan, Xiaoyun Jia, Shiqi Ling, Shiqiang Li, Xiangming Guo

Mol Med Rep. 2017 May; 15(5): 3069–3075. Published online 2017 Mar 23. doi: 10.3892/mmr.2017.6366

PMCID:: PMC5428903

Abstract Article PDF–1.5M

Select item 53143546.

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism

Xuan Zou, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Huajin Li, Ruifang Sui

Sci Rep. 2017; 7: 33713. Published online 2017 Feb 17. doi: 10.1038/srep33713

PMCID:: PMC5314354

Abstract Article PDF–1.3M

Select item 49489807.

Clinical Insights Into Foveal Morphology in Albinism

Brandon K. McCafferty, Melissa A. Wilk, John T. McAllister, Kimberly E. Stepien, Adam M. Dubis, Murray H. Brilliant, Jennifer L Anderson, Joseph Carroll, C. Gail Summers

J Pediatr Ophthalmol Strabismus. Author manuscript; available in PMC 2016 Jul 18.

Published in final edited form as: J Pediatr Ophthalmol Strabismus. 2015 May-Jun; 52(3): 167–172. doi: 10.3928/01913913-20150427-06

PMCID:: PMC4948980

Abstract Article PDF–329K

Select item 44982208.

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus

Ruifang Han, Xiaojuan Wang, Dongjie Wang, Liming Wang, Zhongfang Yuan, Ming Ying, Ningdong Li

Sci Rep. 2015; 5: 12031. Published online 2015 Jul 10. doi: 10.1038/srep12031

PMCID:: PMC4498220

Abstract Article PDF–1.3M

Select item 40980609.

Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism

Melissa A. Wilk, John T. McAllister, Robert F. Cooper, Adam M. Dubis, Teresa N. Patitucci, Phyllis Summerfelt, Jennifer L. Anderson, Kimberly E. Stepien, Deborah M. Costakos, Thomas B. Connor, Jr, William J. Wirostko, Pei-Wen Chiang, Alfredo Dubra, Christine A. Curcio, Murray H. Brilliant, C. Gail Summers, Joseph Carroll

Invest Ophthalmol Vis Sci. 2014 Jul; 55(7): 4186–4198. Published online 2014 Jul 14. doi: 10.1167/iovs.13-13217

PMCID:: PMC4098060

Abstract Article PDF–1.2M

Select item 404262410.

OCULAR FINDINGS IN PATIENTS WITH OCULOCUTANEOUS ALBINISM TYPE IA WITH G47D TYROSINASE GENE MUTATION IN PUERTO RICO: A Case Report

Ferdinand Rodríguez-Agramonte, Natalio J. Izquierdo, Carmen Cadilla

Bol Asoc Med P R. Author manuscript; available in PMC 2014 Jun 3.

Published in final edited form as: Bol Asoc Med P R. 2013; 105(2): 62–64.

PMCID:: PMC4042624

Abstract Article PDF–28K

Select item 685114211.

Clinical and genetic variability in children with partial albinism

Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon C. Ramsden, Theodora Gale, Georgina Hall, Katherine Smith, Dalia Kasperaviciute, Ellen Thomas, I. Chris Lloyd, Sofia Douzgou, Jill Clayton-Smith, Susmito Biswas, Jane L. Ashworth, Graeme C. M. Black, Panagiotis I. Sergouniotis

Sci Rep. 2019; 9: 16576. Published online 2019 Nov 12. doi: 10.1038/s41598-019-51768-8

PMCID:: PMC6851142

Abstract Article PDF–4.7M

Select item 306015612.

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

Junjie Hu, Desheng Liang, Jinjie Xue, Jing Liu, Lingqian Wu

Mol Vis. 2011; 17: 715–722. Published online 2011 Mar 12.

PMCID:: PMC3060156

Abstract Article PDF–2.6M

Select item 257648213.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism

Shaohua Fang, Xiangming Guo, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Qingjiong Zhang

Mol Vis. 2008; 14: 1974–1982. Published online 2008 Oct 30.

PMCID:: PMC2576482

Abstract Article PDF–7.5M

Select item 177272814.

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene

L Lauronen, R Jalkanen, J Huttunen, E Carlsson, S Tuupanen, S Lindh, H Forsius, E-M Sankila, T Alitalo

Br J Ophthalmol. 2005 Jul; 89(7): 820–824. doi: 10.1136/bjo.2004.060582

PMCID:: PMC1772728

Abstract Article PDF–192K

Select item 168276115.

Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

T Alitalo, T A Kruse, H Forsius, A W Eriksson, A de la Chapelle

Am J Hum Genet. 1991 Jan; 48(1): 31–38.

PMCID:: PMC1682761

Summary Page Browse PDF–1009K

Select item 146839616.

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Hélène Mayeur, Olivier Roche, Christelle Vêtu, Carolina Jaliffa, Dominique Marchant, Hélène Dollfus, Dominique Bonneau, Francis L Munier, Daniel F Schorderet, Alex V Levin, Elise Héon, Joanne Sutherland, Didier Lacombe, Edith Said, Eedy Mezer, Josseline Kaplan, Jean-Louis Dufier, Cécile Marsac, Maurice Menasche, Marc Abitbol

BMC Med Genet. 2006; 7: 41. Published online 2006 Apr 28. doi: 10.1186/1471-2350-7-41

PMCID:: PMC1468396

Abstract Article PDF–875K

Select item 138021517.

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

Neil V. Morgan, Shanaz Pasha, Colin A. Johnson, John R. Ainsworth, Robin A. J. Eady, Ban Dawood, Carole McKeown, Richard C. Trembath, Jonathan Wilde, Steve P. Watson, Eamonn R. Maher

Am J Hum Genet. 2006 Jan; 78(1): 160–166. Published online 2005 Nov 28. doi: 10.1086/499338

PMCID:: PMC1380215

Abstract Article PDF–989K

Select item 137701818.

OA1 mutations and deletions in X-linked ocular albinism.

R E Schnur, M Gao, P A Wick, M Keller, P J Benke, M J Edwards, A W Grix, A Hockey, J H Jung, K K Kidd, M Kistenmacher, A V Levin, R A Lewis, M A Musarella, R W Nowakowski, S J Orlow, R S Pagon, D A Pillers, H H Punnett, G E Quinn, K Tezcan, J Wagstaff, R G Weleber

Am J Hum Genet. 1998 Apr; 62(4): 800–809. doi: 10.1086/301776

PMCID:: PMC1377018

Summary PDF–3.0M

Select item 50448619.

Clinical features of affected males with X linked ocular albinism.

S J Charles, J S Green, J W Grant, J R Yates, A T Moore

Br J Ophthalmol. 1993 Apr; 77(4): 222–227. doi: 10.1136/bjo.77.4.222

PMCID:: PMC504486

Summary Page Browse PDF–1.4M

Select item 14030620.

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

Valérie Faugère, Sylvie Tuffery-Giraud, Christian Hamel, Mireille Claustres

BMC Genet. 2003; 4: 1. Published online 2003 Jan 7. doi: 10.1186/1471-2156-4-1

PMCID:: PMC140306

Abstract Article PDF–310K

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