Ophthalmic Genetics, Volume 28, Issue 4 (2007)

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Ophthalmic Genetics, Volume 28, Issue 4 (2007)

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Review

Review Article
A Review of the Molecular Genetics of Congenital Idiopathic Nystagmus (CIN)
James Self & Andrew Lotery
Pages: 187-191
Published online: 08 Jul 2009
AbstractforA Review of the Molecular Genetics of Congenital Idiopathic Nystagmus (CIN) | Full Text | References | PDF (120.5 KB)
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Research Article

Article
Pseudo-Vitelliform Macular Detachment and Cuticular Drusen: Exclusion of 6 Candidate Genes
Irene A. Barbazetto, Nicolas A. Yannuzzi, Christina M. Klais, Joanna E. Merriam, Jana Zernant, Enrico Peiretti, Lawrence A. Yannuzzi & Rando Allikmets
Pages: 192-197
Published online: 08 Jul 2009
AbstractforPseudo-Vitelliform Macular Detachment and Cuticular Drusen: Exclusion of 6 Candidate Genes | Full Text | References | PDF (8.8 MB)
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Article
A New GJA1 (Connexin 43) Mutation Causing Oculodentodigital Dysplasia Associated to Uncommon Features
David Rivera de la Parra & Juan Carlos Zenteno
Pages: 198-202
Published online: 08 Jul 2009
AbstractforA New GJA1 (Connexin 43) Mutation Causing Oculodentodigital Dysplasia Associated to Uncommon Features | Full Text | References | PDF (1.4 MB)
  • 125 Views
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Article
LOC387715/HTRA1 and Complement Factor H Variants in Patients with Age-Related Macular Degeneration Seen at the Mayo Clinic
Jose S. Pulido, Lisa M. Peterson, Lejla Mutapcic, Sandra Bryant & W. Edward Highsmith
Pages: 203-207
Published online: 08 Jul 2009
AbstractforLOC387715/HTRA1 and Complement Factor H Variants in Patients with Age-Related Macular Degeneration Seen at the Mayo Clinic | Full Text | References | PDF (66.2 KB)
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Case Report

Article
Lens Coloboma Associated with a Ciliary Body Cyst
Arif O. Khan & Abdullah Al-Assiri
Pages: 208-209
Published online: 08 Jul 2009
AbstractforLens Coloboma Associated with a Ciliary Body Cyst | Full Text | References | PDF (1 MB)
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Article
Chorioretinopathy and Microcephaly with Normal Development
Hoda Ahmadi & Yasmin S. Bradfield
Pages: 210-215
Published online: 08 Jul 2009
AbstractforChorioretinopathy and Microcephaly with Normal Development | Full Text | References | PDF (2.3 MB)
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Article
Two Novel Deletions (Array CGH Findings) in Pigment Dispersion Syndrome
Ruth Mikelsaar, Harras Molder, Oliver Bartsch & Margus Punab
Pages: 216-219
Published online: 08 Jul 2009
AbstractforTwo Novel Deletions (Array CGH Findings) in Pigment Dispersion Syndrome | Full Text | References | PDF (1.2 MB)
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Article
Severe Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene
Hiroyuki Kondo, Minghui Qin, Tomoko Tahira, Eiichi Uchio & Kenshi Hayashi
Pages: 220-223
Published online: 08 Jul 2009
AbstractforSevere Form of Familial Exudative Vitreoretinopathy Caused by Homozygous R417Q Mutation in Frizzled-4 Gene | Full Text | References | PDF (727.6 KB)
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Article
Genetic Screening of Leber Congenital Amaurosis in a Large Consanguineous Iranian Family
Tayebeh Rezaie, Mohammad-Hassan Karimi-Nejad, Mohammad-Reza Meshkat, Saeed Sohbati, Roxana Karimi-Nejad, Hossein Najmabadi & Mansoor Sarfarazi
Pages: 224-228
Published online: 08 Jul 2009
AbstractforGenetic Screening of Leber Congenital Amaurosis in a Large Consanguineous Iranian Family | Full Text | References | PDF (1 MB)
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Letter To The Editor

Letter
Reassessment of the Pathologic Significance of the 9438 Mitochondrial DNA mutation Associated with LHON
Khaled K. Abu-Amero & Thomas M. Bosley
Pages: 229-230
Published online: 08 Jul 2009
CitationforReassessment of the Pathologic Significance of the 9438 Mitochondrial DNA mutation Associated with LHON | Full Text | References | PDF (39 KB)
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Free Access

Erratum

Correction
Erratum
Page: 231
Published online: 08 Jul 2009
CitationforErratum | Full Text | PDF (20.2 KB)
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