Publications by authors named "Shomi S Bhattacharya"

100Publications

Gene of the month: .

J Clin Pathol 2017 Sep 29;70(9):729-732. Epub 2017 Jun 29.

Department of Genetics, UCL Institute of Ophthalmology, London, UK.

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http://jcp.bmj.com/lookup/doi/10.1136/jclinpath-2016-203971
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http://dx.doi.org/10.1136/jclinpath-2016-203971DOI Listing
September 2017

Effects of Ca ions on bestrophin-1 surface films.

Colloids Surf B Biointerfaces 2017 Jan 13;149:226-232. Epub 2016 Oct 13.

Sofia University "St. Kliment Ohridski", Department of Biochemistry, Faculty of Biology, 8 Dragan Tzankov str., 1164 Sofia, Bulgaria. Electronic address:

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http://dx.doi.org/10.1016/j.colsurfb.2016.10.023DOI Listing
January 2017

Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa.

Nanomedicine 2016 11 2;12(8):2251-2260. Epub 2016 Jul 2.

Department of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, Universidade de Santiago de Compostela, Campus Vida, Santiago de Compostela, Spain; Molecular Image Group, Health Research Institute-University Clinical Hospital of Santiago de Compostela (IDIS), Santiago de Compostela, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nano.2016.06.007DOI Listing
November 2016

First insights into the expression of VAX2 in humans and its localization in the adult primate retina.

Exp Eye Res 2016 07 11;148:24-29. Epub 2016 May 11.

Institute of Ophthalmology, UCL, London EC1V 9EL, UK.

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http://dx.doi.org/10.1016/j.exer.2016.05.008DOI Listing
July 2016

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Authors:
Chiea Chuen Khor Tan Do Hongyan Jia Masakazu Nakano Ronnie George Khaled Abu-Amero Roopam Duvesh Li Jia Chen Zheng Li Monisha E Nongpiur Shamira A Perera Chunyan Qiao Hon-Tym Wong Hiroshi Sakai Mônica Barbosa de Melo Mei-Chin Lee Anita S Chan Yaakub Azhany Thi Lam Huong Dao Yoko Ikeda Rodolfo A Perez-Grossmann Tomasz Zarnowski Alexander C Day Jost B Jonas Pancy O S Tam Tuan Anh Tran Humaira Ayub Farah Akhtar Shazia Micheal Paul T K Chew Leyla A Aljasim Tanuj Dada Tam Thi Luu Mona S Awadalla Naris Kitnarong Boonsong Wanichwecharungruang Yee Yee Aung Jelinar Mohamed-Noor Saravanan Vijayan Sripriya Sarangapani Rahat Husain Aliza Jap Mani Baskaran David Goh Daniel H Su Huaizhou Wang Vernon K Yong Leonard W Yip Tuyet Bach Trinh Manchima Makornwattana Thanh Thu Nguyen Edgar U Leuenberger Ki-Ho Park Widya Artini Wiyogo Rajesh S Kumar Celso Tello Yasuo Kurimoto Suman S Thapa Kessara Pathanapitoon John F Salmon Yong Ho Sohn Antonio Fea Mineo Ozaki Jimmy S M Lai Visanee Tantisevi Chaw Chaw Khaing Takanori Mizoguchi Satoko Nakano Chan-Yun Kim Guangxian Tang Sujie Fan Renyi Wu Hailin Meng Thi Thuy Giang Nguyen Tien Dat Tran Morio Ueno Jose Maria Martinez Norlina Ramli Yin Mon Aung Rigo Daniel Reyes Stephen A Vernon Seng Kheong Fang Zhicheng Xie Xiao Yin Chen Jia Nee Foo Kar Seng Sim Tina T Wong Desmond T Quek Rengaraj Venkatesh Srinivasan Kavitha Subbiah R Krishnadas Nagaswamy Soumittra Balekudaru Shantha Boon-Ang Lim Jeanne Ogle José P C de Vasconcellos Vital P Costa Ricardo Y Abe Bruno B de Souza Chelvin C Sng Maria C Aquino Ewa Kosior-Jarecka Guillermo Barreto Fong Vania Castro Tamanaja Ricardo Fujita Yuzhen Jiang Naushin Waseem Sancy Low Huan Nguyen Pham Sami Al-Shahwan E Randy Craven Muhammad Imran Khan Rrima Dada Kuldeep Mohanty Muneeb A Faiq Alex W Hewitt Kathryn P Burdon Eng Hui Gan Anuwat Prutthipongsit Thipnapa Patthanathamrongkasem Mary Ann T Catacutan Irene R Felarca Chona S Liao Emma Rusmayani Vira Wardhana Istiantoro Giulia Consolandi Giulia Pignata Carlo Lavia Prin Rojanapongpun Lerprat Mangkornkanokpong Sunee Chansangpetch Jonathan C H Chan Bonnie N K Choy Jennifer W H Shum Hlaing May Than Khin Thida Oo Aye Thi Han Victor H Yong Xiao-Yu Ng Shuang Ru Goh Yaan Fun Chong Martin L Hibberd Mark Seielstad Eileen Png Sarah J Dunstan Nguyen Van Vinh Chau Jinxin Bei Yi Xin Zeng Abhilasha Karkey Buddha Basnyat Francesca Pasutto Daniela Paoli Paolo Frezzotti Jie Jin Wang Paul Mitchell John H Fingert R Rand Allingham Michael A Hauser Soon Thye Lim Soo Hong Chew Richard P Ebstein Anavaj Sakuntabhai Kyu Hyung Park Jeeyun Ahn Greet Boland Harm Snippe Richard Stead Raquel Quino Su Nyunt Zaw Urszula Lukasik Rohit Shetty Mimiwati Zahari Hyoung Won Bae Nay Lin Oo Toshiaki Kubota Anita Manassakorn Wing Lau Ho Laura Dallorto Young Hoon Hwang Christine A Kiire Masako Kuroda Zeiras Eka Djamal Jovell Ian M Peregrino Arkasubhra Ghosh Jin Wook Jeoung Tung S Hoan Nuttamon Srisamran Thayanithi Sandragasu Saw Htoo Set Vi Huyen Doan Shomi S Bhattacharya Ching-Lin Ho Donald T Tan Ramanjit Sihota Seng-Chee Loon Kazuhiko Mori Shigeru Kinoshita Anneke I den Hollander Raheel Qamar Ya-Xing Wang Yik Y Teo E-Shyong Tai Curt Hartleben-Matkin David Lozano-Giral Seang Mei Saw Ching-Yu Cheng Juan C Zenteno Chi Pui Pang Huong T T Bui Owen Hee Jamie E Craig Deepak P Edward Michiko Yonahara Jamil Miguel Neto Maria L Guevara-Fujita Liang Xu Robert Ritch Ahmad Tajudin Liza-Sharmini Tien Y Wong Saleh Al-Obeidan Nhu Hon Do Periasamy Sundaresan Clement C Tham Paul J Foster Lingam Vijaya Kei Tashiro Eranga N Vithana Ningli Wang Tin Aung

Nat Genet 2016 May 4;48(5):556-62. Epub 2016 Apr 4.

Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.

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http://www.nature.com/articles/ng.3540
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http://dx.doi.org/10.1038/ng.3540DOI Listing
May 2016

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.

Mol Biol Evol 2016 05 13;33(5):1205-18. Epub 2016 Jan 13.

Medical Genome Project, Genomics and Bioinformatics Platform of Andalusia (GBPA), Sevilla, Spain Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/Consejo Superior de Investigaciones Científicas/University of Seville, Sevilla, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Sevilla, Spain

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http://dx.doi.org/10.1093/molbev/msw005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839216PMC
May 2016

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):8297-305

The McGill Ocular Genetics Laboratory Paediatric Ophthalmology Division, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1167/iovs.15-17104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4699406PMC
December 2015

Concise review: reactive astrocytes and stem cells in spinal cord injury: good guys or bad guys?

Stem Cells 2015 Apr;33(4):1036-41

CABIMER (Centro Andaluz de Biología Molecular y Medicina Regenerativa), Avda. Americo Vespucio s/n, Parque Científico y Tecnológico Cartuja, Sevilla, Spain.

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http://dx.doi.org/10.1002/stem.1959DOI Listing
April 2015

Cleavage of Mer tyrosine kinase (MerTK) from the cell surface contributes to the regulation of retinal phagocytosis.

J Biol Chem 2015 Feb 23;290(8):4941-52. Epub 2014 Dec 23.

From the INSERM, U968, Sorbonne Universités, UPMC Univ Paris 06, UMR_S968, Institut de la Vision, CNRS, UMR_7210, 17 Rue Moreau, Paris, F-75012, France,

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http://www.jbc.org/lookup/doi/10.1074/jbc.M114.628297
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http://dx.doi.org/10.1074/jbc.M114.628297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335232PMC
February 2015

Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.

Am J Pathol 2014 Oct 8;184(10):2641-52. Epub 2014 Aug 8.

Vision Institute, INSERM, U968, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, CNRS, UMR_7210, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2014.06.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188860PMC
October 2014

ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma.

PLoS Genet 2014 Mar 6;10(3):e1004089. Epub 2014 Mar 6.

Singapore Eye Research Institute and Singapore National Eye Centre, Singapore; Department of Ophthalmology, National University Health System & National University of Singapore, Singapore.

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http://oar.a-star.edu.sg/jspui/bitstream/123456789/729/1/ABC
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http://dx.plos.org/10.1371/journal.pgen.1004089
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http://dx.doi.org/10.1371/journal.pgen.1004089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3945113PMC
March 2014

Brief report: astrogliosis promotes functional recovery of completely transected spinal cord following transplantation of hESC-derived oligodendrocyte and motoneuron progenitors.

Stem Cells 2014 Feb;32(2):594-9

CABIMER (Centro Andaluz de Biología Molecular y Medicina Regenerativa), Avda. Americo Vespucio s/n, Parque Científico y Tecnológico Cartuja, Sevilla, Spain.

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http://doi.wiley.com/10.1002/stem.1562
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http://dx.doi.org/10.1002/stem.1562DOI Listing
February 2014

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

Biomed Res Int 2013 14;2013:517570. Epub 2013 Aug 14.

Department of Cellular Therapy and Regenerative Medicine, Andalusian Centre for Molecular Biology and Regenerative Medicine (CABIMER), 'Isla Cartuja', 41092 Seville, Spain.

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http://dx.doi.org/10.1155/2013/517570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759255PMC
April 2014

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

Eur J Hum Genet 2013 Dec 27;21(12):1356-60. Epub 2013 Mar 27.

Department of Genetics, Institute of Ophthalmology, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2013.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831071PMC
December 2013

Hypoxia increases the yield of photoreceptors differentiating from mouse embryonic stem cells and improves the modeling of retinogenesis in vitro.

Stem Cells 2013 May;31(5):966-78

CABIMER (Centro Andaluz de Biología Molecular y Medicina Regenerativa), Avda. Americo Vespucio s/n, Parque Científico y Tecnológico Cartuja, Sevilla, Spain.

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http://dx.doi.org/10.1002/stem.1339DOI Listing
May 2013

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.

Hum Mol Genet 2013 Apr 7;22(8):1507-15. Epub 2013 Jan 7.

Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Avda. Americo Vespucio, Seville 41092, Spain.

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http://dx.doi.org/10.1093/hmg/dds563DOI Listing
April 2013

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

PLoS Genet 2012 8;8(11):e1003040. Epub 2012 Nov 8.

Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1371/journal.pgen.1003040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3493449PMC
May 2013

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.

PLoS One 2012 25;7(9):e45495. Epub 2012 Sep 25.

Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045495PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458081PMC
April 2013

Cross species analysis of Prominin reveals a conserved cellular role in invertebrate and vertebrate photoreceptor cells.

Dev Biol 2012 Nov 1;371(2):312-20. Epub 2012 Sep 1.

Department of Biology, Indiana University, 1001 East Third St, Bloomington, IN 47405, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S001216061200468
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http://dx.doi.org/10.1016/j.ydbio.2012.08.024DOI Listing
November 2012

Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.

Nat Genet 2012 Oct 26;44(10):1142-1146. Epub 2012 Aug 26.

Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

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http://dx.doi.org/10.1038/ng.2390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4333205PMC
October 2012

A map of human microRNA variation uncovers unexpectedly high levels of variability.

Genome Med 2012 24;4(8):62. Epub 2012 Aug 24.

Institute of Computational Genomics, Centro de Investigación Príncipe Felipe (CIPF), C/ Eduardo Primo Yufera 3, Valencia, 46012, Spain ; Medical Genome Project, Andalusian Center for Human Genomic Sequencing, c/ Albert Einstein s/n. Plta. Baja, Sevilla, 41092, Spain ; BIER, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIPF, C/ Eduardo Primo Yufera 3, Valencia, 46012, Spain ; Functional Genomics Node (INB), CIPF, C/ Eduardo Primo Yufera 3, Valencia, 46012, Spain.

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http://link.springer.com/content/pdf/10.1186%2Fgm363.pdf
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http://genomemedicine.com/content/4/8/62
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http://dx.doi.org/10.1186/gm363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064319PMC
August 2014

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Hum Mol Genet 2012 Sep 20;21(18):4126-37. Epub 2012 Jun 20.

Department of Genetics, UCL Institute of Ophthalmology, London EC1V 9EL, UK.

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http://dx.doi.org/10.1093/hmg/dds242DOI Listing
September 2012

Derivation of cerebellar neurons from human pluripotent stem cells.

Curr Protoc Stem Cell Biol 2012 Mar;Chapter 1:Unit 1H.5

CABIMER (Centro Andaluz de Biología Molecular y Medicina Regenerativa), Sevilla, Spain.

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http://dx.doi.org/10.1002/9780470151808.sc01h05s20DOI Listing
March 2012

Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.

Invest Ophthalmol Vis Sci 2012 Jan 25;53(1):440-7. Epub 2012 Jan 25.

MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.10-5640DOI Listing
January 2012

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.

Mol Vis 2011 23;17:2272-82. Epub 2011 Aug 23.

NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171497PMC
January 2012

Hypoxia enhances the generation of retinal progenitor cells from human induced pluripotent and embryonic stem cells.

Stem Cells Dev 2012 May 27;21(8):1344-55. Epub 2011 Oct 27.

Department of Biochemical Engineering, The Advanced Centre for Biochemical Engineering, University College London, London, UK.

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https://www.liebertpub.com/doi/10.1089/scd.2011.0225
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http://dx.doi.org/10.1089/scd.2011.0225DOI Listing
May 2012

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q.

Eur J Hum Genet 2011 Dec 6;19(12):1289-91. Epub 2011 Jul 6.

Department of Genetics, Institute of Ophthalmology, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2011.130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230366PMC
December 2011

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2011 Aug 22;52(9):6597-603. Epub 2011 Aug 22.

Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.11-7861DOI Listing
August 2011

A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract.

Mol Vis 2011 6;17:1249-53. Epub 2011 May 6.

Department of Genetics, Institute of Ophthalmology, University College London, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103741PMC
September 2011

Copy-number variations in EYS: a significant event in the appearance of arRP.

Invest Ophthalmol Vis Sci 2011 Jul 29;52(8):5625-31. Epub 2011 Jul 29.

Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.

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http://dx.doi.org/10.1167/iovs.11-7292DOI Listing
July 2011

Concise review: stem cells for the treatment of cerebellar-related disorders.

Stem Cells 2011 Apr;29(4):564-9

Centro Andaluz de Biología Molecular y Medicina Regenerativa, Avda. Americo Vespucio s/n, Parque Científico y Tecnológico Cartuja, Sevilla, Spain.

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https://www.researchgate.net/profile/Slaven_Erceg/publicatio
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http://doi.wiley.com/10.1002/stem.619
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http://dx.doi.org/10.1002/stem.619DOI Listing
April 2011

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Hum Mutat 2010 Nov;31(11):E1772-800

Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/ Universidad de Sevilla, Sevilla, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3045506PMC
http://dx.doi.org/10.1002/humu.21334DOI Listing
November 2010

Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers.

Arch Ophthalmol 2010 Sep;128(9):1191-5

Division of Genetics, Institute of Ophthalmology, University College London, London, England.

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http://dx.doi.org/10.1001/archophthalmol.2010.200DOI Listing
September 2010

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice.

Proc Natl Acad Sci U S A 2010 Aug 16;107(35):15523-8. Epub 2010 Aug 16.

Neurobiology-Neurodegeneration and Repair Laboratory, Biological Imaging Core, and Mechanisms of Retinal Diseases Section, Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1073/pnas.1002897107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2932565PMC
August 2010

EYS is a major gene for rod-cone dystrophies in France.

Hum Mutat 2010 May;31(5):E1406-35

INSERM U968, Department of Genetics, Institut de la Vision, UPMC Univ Paris 06, 17 Rue Moreau, Paris, France.

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http://dx.doi.org/10.1002/humu.21249DOI Listing
May 2010

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.

Nat Rev Genet 2010 Apr;11(4):273-84

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1038/nrg2717DOI Listing
April 2010

Molecular genetic study of Egyptian patients with macular corneal dystrophy.

Br J Ophthalmol 2010 Feb 3;94(2):250-5. Epub 2009 Sep 3.

Department of Molecular Genetics, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.

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http://dx.doi.org/10.1136/bjo.2009.161810DOI Listing
February 2010

Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?

Ophthalmic Genet 2009 Jun;30(2):96-8

Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1080/13816810802695543DOI Listing
June 2009

Dominant cataract formation in association with a vimentin assembly disrupting mutation.

Hum Mol Genet 2009 Mar 6;18(6):1052-7. Epub 2009 Jan 6.

Institut für Biochemie und Molekularbiologie, Abteilung für Zellbiochemie und LIMES, Universität Bonn, Bonn, Germany.

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http://dx.doi.org/10.1093/hmg/ddn440DOI Listing
March 2009

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.

Ophthalmic Res 2008 6;40(2):105-8. Epub 2008 Feb 6.

Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK.

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http://dx.doi.org/10.1159/000115325DOI Listing
March 2008

The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.

Invest Ophthalmol Vis Sci 2007 Oct;48(10):4421-5

MRC Centre of Epidemiology for Child Health, Institute of Child Health, University College London, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.07-0231DOI Listing
October 2007

Study of p.N247S KERA mutation in a British family with cornea plana.

Mol Vis 2007 Jul 27;13:1339-47. Epub 2007 Jul 27.

Division of Molecular Genetics, Institute of Ophthalmology, UCL, London, UK.

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July 2007

Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.

Hum Mol Genet 2007 Jul 20;16(14):1699-707. Epub 2007 May 20.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy.

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http://academic.oup.com/hmg/article/16/14/1699/2356000/Mutat
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http://dx.doi.org/10.1093/hmg/ddm118DOI Listing
July 2007

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2007 Mar;48(3):1330-4

Department of Molecular Genetics, Institute of Ophthalmology, University College London, London, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.06-0963DOI Listing
March 2007

A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).

J Glaucoma 2007 Jan;16(1):104-11

Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK.

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https://insights.ovid.com/crossref?an=00061198-200701000-000
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http://dx.doi.org/10.1097/01.ijg.0000212288.00917.e1DOI Listing
January 2007

Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects.

Vision Res 2006 Dec 2;46(27):4556-67. Epub 2006 Oct 2.

Hamilton Eye Institute, Department of Ophthalmology, Retinal Degeneration and Ophthalmic Genetics Service, University of Tennessee Health Science Center, 930 Madison Avenue, Suit 731, Memphis, TN 38163, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S004269890600361
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http://dx.doi.org/10.1016/j.visres.2006.08.018DOI Listing
December 2006

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

Invest Ophthalmol Vis Sci 2006 Jul;47(7):3085-97

Moorfields Eye Hospital, City Road, and Instiute of Ophthalmology, University College London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.05-1600DOI Listing
July 2006

A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease.

Mol Vis 2006 Apr 18;12:384-8. Epub 2006 Apr 18.

Institute of Ophthalmology, University College London, London, UK.

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April 2006