Ophthalmic Genetics, Volume 25, Issue 2 (2004)

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Ophthalmic Genetics, Volume 25, Issue 2 (2004)

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Research Article

Article
Leber congenital amaurosis: a genetic paradigm
Rando Allikmets
Pages: 67-79
Published online: 08 Jul 2009
AbstractforLeber congenital amaurosis: a genetic paradigm | References | PDF (93.3 KB)
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Article
Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4mutations (H69Y and C181R)
Satoshi Omoto, Takaaki Hayashi, Kenji Kitahara, Tomokazu Takeuchi & Yasuo Ueoka
Pages: 81-90
Published online: 08 Jul 2009
AbstractforAutosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4mutations (H69Y and C181R) | References | PDF (218.6 KB)
  • 132 Views
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Article
Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients
Tomoko Umeda, Toshihiko Matsuo, Mikio Nagayama, Naoyuki Tamura, Yuko Tanabe & Hiroshi Ohtsuki
Pages: 91-99
Published online: 08 Jul 2009
AbstractforClinical relevance of optineurin sequence alterations in Japanese glaucoma patients | References | PDF (102.6 KB)
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Article
Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview
Markus Preising & Carmen Ayuso
Pages: 101-110
Published online: 08 Jul 2009
AbstractforRab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview | References | PDF (175.4 KB)
  • 312 Views
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Article
Evaluation of the ARMD1 locus on 1q25–31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1
M. Hayashi, J.E. Merriam, C.C.W. Klaver, J. Zernant, A.A. Bergen, R.T. Smith, S. Chang, J.C. Merriam & R. Allikmets
Pages: 111-119
Published online: 08 Jul 2009
AbstractforEvaluation of the ARMD1 locus on 1q25–31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1 | References | PDF (78.4 KB)
  • 88 Views
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Article
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)
Simon Brooks, Neil Ebenezer, Subathra Poopalasundaram, Eamonn Maher, Peter Francis, Anthony Moore & Alison Hardcastle
Pages: 121-131
Published online: 08 Jul 2009
AbstractforRefinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS) | References | PDF (177.7 KB)
  • 114 Views
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Article
A novel RDS/peripherin gene mutation associated with diverse macular phenotypes
Zhenglin Yang, Yang Li, Li Jiang, Goutam Karan, Darius Moshfeghi, Scott O'Connor, Xi Li, Zhengya Yu, Hilel Lewis, Donald Zack, Samuel Jacobson & Kang Zhang
Pages: 133-145
Published online: 08 Jul 2009
AbstractforA novel RDS/peripherin gene mutation associated with diverse macular phenotypes | References | PDF (269.7 KB)
  • 104 Views
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Article
A novel KERAmutation associated with autosomal recessive cornea plana
Arif Khan & Marios Kambouris
Pages: 147-152
Published online: 08 Jul 2009
AbstractforA novel KERAmutation associated with autosomal recessive cornea plana | References | PDF (110.3 KB)
  • 63 Views
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Article
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome
Elias Traboulsi, Naji Waked, Hala Mégarbané & André Mégarbané
Pages: 153-156
Published online: 08 Jul 2009
AbstractforOcular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome | References | PDF (146.5 KB)
  • 70 Views
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Article
Peters' anomaly
Gerald Zaidman
Pages: 157-158
Published online: 08 Jul 2009
CitationforPeters' anomaly | PDF (35.4 KB)
  • 22 Views
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