Ophthalmic Genetics, Volume 32, Issue 1 (2011)

Browse this journal
Sample our Medicine, Dentistry, Nursing & Allied Health journals, sign in here to start your FREE access for 14 days

Ophthalmic Genetics, Volume 32, Issue 1 (2011)

See all volumes and issues
Vol 45, 2024 Vol 44, 2023 Vol 43, 2022 Vol 42, 2021 Vol 41, 2020 Vol 40, 2019 Vol 39, 2018 Vol 38, 2017 Vol 37, 2016 Vol 36, 2015 Vol 35, 2014 Vol 34, 2013 Vol 33, 2012 Volume 32, 2011 Vol 31, 2010 Vol 30, 2009 Vol 29, 2008 Vol 28, 2007 Vol 27, 2006 Vol 26, 2005 Vol 25, 2004 Vol 24, 2003 Vol 23, 2002 Vol 22, 2001 Vol 21, 2000 Vol 20, 1999 Vol 19, 1998 Vol 18, 1997 Vol 17, 1996 Vol 16, 1995 Vol 15, 1994 Vol 14, 1993 Vol 13, 1992 Vol 12, 1991 Vol 11, 1990 Vol 10, 1989 Vol 9, 1988 Vol 8, 1987 Vol 7, 1986 Vol 6, 1985 Vol 5, 1985 Vol 4, 1984 Vol 3, 1983 Vol 2, 1983 Vol 1, 1981-1982
Download citations Download PDFs Download issue

Review

Review Article
RPGR: Role in the photoreceptor cilium, human retinal disease, and gene therapy
Jutta Hosch, Birgit Lorenz & Knut Stieger
Pages: 1-11
Published online: 21 Dec 2010
AbstractforRPGR: Role in the photoreceptor cilium, human retinal disease, and gene therapy | Full Text | References | PDF (885.1 KB)
  • 848 Views
  • 30 CrossRef citations
  • 0Altmetric

Original Article

Article
Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series
Michele Rinaldi, Elisabetta Buscarini, Cesare Danesino, Flavia Chiosi, Antonella De Benedictis, Antonio Porcellini & Ciro Costagliola
Pages: 12-17
Published online: 21 Dec 2010
AbstractforOcular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series | Full Text | References | PDF (920.5 KB)
  • 326 Views
  • 15 CrossRef citations
  • 0Altmetric
Article
Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma
Niro Kasahara, Cristiano Caixeta-Umbelino, Maurício D. Paolera, Mylene N. Rocha, Flávio Richeti, José P.C. Vasconcellos, Ralph Cohen, Vital P. Costa, Carlos A. Longui, Murilo R. Melo & Mônica B. Melo
Pages: 18-23
Published online: 21 Dec 2010
AbstractforMyocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma | Full Text | References | PDF (550.8 KB)
  • 73 Views
  • 2 CrossRef citations
  • 0Altmetric
Article
OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations
Oscar F. Chacon-Camacho, Leyla Camarillo-Blancarte & Juan C. Zenteno
Pages: 24-30
Published online: 15 Nov 2010
AbstractforOCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations | Full Text | References | PDF (1.1 MB)
  • 174 Views
  • 6 CrossRef citations
  • 0Altmetric
Article
Central retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review
Yi-Ting Hsieh, Ming-Tao Yang, Yi-Jie Peng & Wei-Cherng Hsu
Pages: 31-38
Published online: 21 Dec 2010
AbstractforCentral retinal vein occlusion as the initial manifestation of LHON / MELAS overlap syndrome with mitochondrial DNA G13513A mutation—Case report and literature review | Full Text | References | PDF (961.9 KB)
  • 260 Views
  • 18 CrossRef citations
  • 0Altmetric
Article
Expression of double strand DNA breaks repair genes in pterygium
Anna Łękawa–Ilczuk, Halina Antosz, Beata Rymgayłło–Jankowska & Tomasz Żarnowski
Pages: 39-47
Published online: 15 Nov 2010
AbstractforExpression of double strand DNA breaks repair genes in pterygium | Full Text | References | PDF (713 KB)
  • 123 Views
  • 6 CrossRef citations
  • 0Altmetric
Article
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract
Wei He, Xin Li, Jiajing Chen, Ling Xu, Feng Zhang, Qiushi Dai, Hao Cui, Duen-Mei Wang, Jun Yu, Songnian Hu & Shan Lu
Pages: 48-53
Published online: 21 Dec 2010
AbstractforGenetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract | Full Text | References | PDF (847.7 KB)
  • 121 Views
  • 7 CrossRef citations
  • 0Altmetric
Article
Juvenile xanthogranuloma of the corneoscleral limbus: report of two cases
Christophe De Keyser, Prabhat Maudgal, Eric Legius, Rita Van Ginderdeuren & Ingele Casteels
Pages: 54-56
Published online: 21 Dec 2010
AbstractforJuvenile xanthogranuloma of the corneoscleral limbus: report of two cases | Full Text | References | PDF (656.4 KB)
  • 135 Views
  • 8 CrossRef citations
  • 0Altmetric
Article
A novel nonsense mutation in Rhodopsin gene in two Indonesian Families with Autosomal Recessive Retinitis Pigmentosa
Arief Kartasasmita, Keiko Fujiki, Erwin Iskandar, Iwan Sovani, Takuro Fujimaki & Akira Murakami
Pages: 57-63
Published online: 21 Dec 2010
AbstractforA novel nonsense mutation in Rhodopsin gene in two Indonesian Families with Autosomal Recessive Retinitis Pigmentosa | Full Text | References | PDF (1.1 MB)
  • 280 Views
  • 15 CrossRef citations
  • 0Altmetric

Letter to the Editor

Letter
Giant Macular Hole in Alport Syndrome
Page: 64
Published online: 21 Dec 2010
CitationforGiant Macular Hole in Alport Syndrome | Full Text | References | PDF (481.7 KB)
  • 544 Views
  • 3 CrossRef citations
  • 0Altmetric
Free Access

Explore articles

Explore the most recently published articles

Geleophysic dysplasia and Weill–Marchesani syndrome: ADAMTSL2 a possible common gene
Tarik Duzenli et al.
Case Report | Published online: 24 Jul 2024
The landscape of clinical trials research in inherited ophthalmic disease
Vincent Ng et al.
Article | Published online: 24 Jul 2024
Genetic methylation in myopia
Xi He et al.
Article Commentary | Published online: 24 Jul 2024
Usher syndrome in the United Arab Emirates
Arif O. Khan
Article | Published online: 17 Jul 2024
View all latest articles