http://www.informaworld.com/smpp/title~content=t713734455~db=all informaworld: articles recently published in Ophthalmic Genetics Informa Healthcare Articles recently published in Ophthalmic Genetics RSS feed of the most recently published articles of Ophthalmic Genetics 2009-09-01 undefined Ophthalmic Genetics 1381-6810 weekly 1 2009-09-01T00:00+00:00 Rhodopsin: The Functional Significance of Asn-Linked Glycosylation and Other Post-Translational Modifications http://www.informaworld.com/smpp/content~content=a913873324~db=all~jumptype=rss Al-Ubaidi, Muayyad R. Fliesler, Steven J. Murray, Anne R. 30 3 109 120 Retinoblastoma CSF Metastasis Cured By Multimodality Chemotherapy Without Radiation http://www.informaworld.com/smpp/content~content=a913875095~db=all~jumptype=rss Chan, Helen S. L. Gallie, Brenda L. Halliday, William Doyle, John J. Budning, Andrew Dimaras, Helen Héon, Elise 30 3 121 126 Ophthalmic Pathology of Nance-Horan Syndrome: Case Report and Review of the Literature http://www.informaworld.com/smpp/content~content=a913873086~db=all~jumptype=rss Sieving, Pamela C. Herzlich, Alexandra A. Patel, Mrinali Chan, Chi-Chao Ding, Xiaoyan 30 3 127 135 Microcephaly and Congenital Grouped Pigmentation of the Retinal Pigment Epithelium Associated with Submicroscopic Deletions of 13q33.3-q34 and 11p15.4 http://www.informaworld.com/smpp/content~content=a913882396~db=all~jumptype=rss Traboulsi, Elias I. Cohen, Bruce Varn, Mary Morales, Augusto Seaver, Laurie H. Smith, Brooke T. DuPont, Barbara R. Rogers, R. Curtis Everman, David B. Siddiqui, Ajaz M. 30 3 136 141 Corneal Decompensation in Recessive Cornea Plana http://www.informaworld.com/smpp/content~content=a913872516~db=all~jumptype=rss Alkuraya, Fowzan S. Meyer, Brain F. Al-Gehedan, Saeed Aldahmesh, Mohammed A. Khan, Arif O. 30 3 142 145 A New Syndrome Associated with Absence of Lower Lid Lacrimal Punctum, Ptosis, Elevation Deficiency of Both Eyes and Mild Facial Dysmorphism http://www.informaworld.com/smpp/content~content=a913872539~db=all~jumptype=rss Bahce, Muhterem Ugurel, Mehmet Sahin Uysal, Yusuf Mutlu, Fatih Mehmet Torun, Deniz Guran, Sefik 30 3 146 151 Why do Cone Photoreceptors Die in Rod-Specific Forms of Retinal Degenerations? http://www.informaworld.com/smpp/content~content=a913880765~db=all~jumptype=rss Koenekoop, Robert K. 30 3 152 154 Are Patients with Down Syndrome Predisposed to Retinal Neoplasms? http://www.informaworld.com/smpp/content~content=a913872561~db=all~jumptype=rss Satgé, Daniel 30 3 155 155 RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy http://www.informaworld.com/smpp/content~content=a910512300~db=all~jumptype=rss Naash, Muna I. Conley, Shannon M. Cai, Xue 30 2 57 62 Natural History of Phenotypic Changes in Stargardt Macular Dystrophy http://www.informaworld.com/smpp/content~content=a910511475~db=all~jumptype=rss Fishman, Gerald A. Walia, Saloni 30 2 63 68 Flecked-Retina Syndromes http://www.informaworld.com/smpp/content~content=a910511405~db=all~jumptype=rss Kapur, Rashmi Fishman, Gerald A. Walia, Saloni 30 2 69 75 PRPF31 Alternative Splicing and Expression in Human Retina http://www.informaworld.com/smpp/content~content=a910511565~db=all~jumptype=rss Rivolta, Carlo Tanackovic, Goranka 30 2 76 83 Quantitative Analysis of Tumor Size in a Murine Model of Retinoblastoma http://www.informaworld.com/smpp/content~content=a910511835~db=all~jumptype=rss Gallie, Brenda L. Marchong, Mellone N. Dimaras, Helen 30 2 84 90 Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata http://www.informaworld.com/smpp/content~content=a910512048~db=all~jumptype=rss Engle, Elizabeth C. Jamieson, Robyn Balachandran, Chandra Flaherty, Maree P. 30 2 91 95 Mutations in TOPORS : A Rare Cause of Autosomal Dominant Retinitis Pigmentosa in Continental Europe? http://www.informaworld.com/smpp/content~content=a910511822~db=all~jumptype=rss Rüther, Klaus Bhattacharya, Shomi S. Chakarova, Christina F. Schob, Claudia Orth, Ulrike Gal, Andreas Kindler, Stefan 30 2 96 98 A Novel NDP Mutation in an Infant with Unilateral Persistent Fetal Vasculature and Retinal Vasculopathy http://www.informaworld.com/smpp/content~content=a910510907~db=all~jumptype=rss Mohney, Brian G. Quiram, Polly A. Ellison, Jay W. Pulido, Jose S. Aponte, Elisabeth P. 30 2 99 102 Ophthalmic Features in a Dysmorphic Boy with Chromosome 4q Deletion and Duplication http://www.informaworld.com/smpp/content~content=a910512598~db=all~jumptype=rss Pecile, Vanna Pensiero, Stefano Redaelli, Serena Dalprà, Leda Marchetti, Federico Petix, Vincenzo Benussi, Daniela Gambel Fabretto, Antonella Parentin, Fulvio 30 2 103 105 Coats' Disease, Megalopapilla and Cornelia De Lange Syndrome http://www.informaworld.com/smpp/content~content=a910510883~db=all~jumptype=rss Sears, Jonathan E. Traboulsi, Elias I. Barakat, Mark R. 30 2 106 108 Macular Dysfunction and Morphology in Spinocerebellar Ataxia Type 7 (SCA 7) http://www.informaworld.com/smpp/content~content=a908187385~db=all~jumptype=rss Andréasson, Sten Ponjavic, Vesna Gränse, Lotta Hugosson, Therése 30 1 1 6 Duane Retraction Syndrome, Nystagmus, Retinal Pigment Epitheliopathy and Epiretinal Membrane with Micro- and Pachygyria, Developmental Delay, Hearing Loss and Craniopharyngioma http://www.informaworld.com/smpp/content~content=a908192131~db=all~jumptype=rss Bateman, J. Bronwyn Vasiliou, Vasilis Lassen, Natalie D'Amelio, Savino 30 1 7 12 Lack of Association Between Optineurin Gene Variants T34T, E50K, M98K, 691_692insAG and R545Q and Primary Open Angle Glaucoma in Brazilian Patients http://www.informaworld.com/smpp/content~content=a908182603~db=all~jumptype=rss de Almeida, Geraldo Vicente Cohen, Ralph Mandia, Carmo Rocha, Mylene Neves Richeti, Flávio Longui, Carlos Alberto de Melo, Mônica Barbosa Paolera, Maurício Della Kasahara, Niro Costa, Vital Paulino de Vasconcellos, José Paulo Cabral Caixeta-Umbelino, Cristiano 30 1 13 18 Uncommon Associations with Ataxia-Telangiectasia: Vitiligo and Optic Disc Drusen http://www.informaworld.com/smpp/content~content=a908188478~db=all~jumptype=rss Ateş, Nurcan Aras Adiguzel, Ufuk Okuyaz, Çetin Sari, Ayça 30 1 19 22 Phenotypic Overlap of Familial Exudative Vitreoretinopathy (FEVR) with Persistent Fetal Vasculature (PFV) Caused by FZD4 Mutations in two Distinct Pedigrees http://www.informaworld.com/smpp/content~content=a908192643~db=all~jumptype=rss Hoskin-Mott, Ann Samuels, Mark Beis, M. Jill Zheng, Binyou Wallace, Karin Robitaille, Johane M. Guernsey, Duane L. 30 1 23 30 The Effect of Therapy Refusal Against Medical Advice in Retinoblastoma Patients in a Setting Where Treatment Delays are Common http://www.informaworld.com/smpp/content~content=a908179157~db=all~jumptype=rss Moll, Annette C. Sitorus, Rita S. Simangunsong, Lumongga S. Imhof, Saskia Völker-Dieben, H. J. M. Riono, Pandu Suhardjono, Setiowati 30 1 31 36 Congenital Alacrima in a Patient with Blepharophimosis Syndrome http://www.informaworld.com/smpp/content~content=a908192176~db=all~jumptype=rss Athappilly, Geetha K. Braverman, Rebecca Sands 30 1 37 39 Published International Classification of Retinoblastoma (ICRB) Definitions Contain Inconsistencies—An Analysis of Impact http://www.informaworld.com/smpp/content~content=a908192764~db=all~jumptype=rss Dunkel, Ira J. Kim, Jonathan W. Abramson, David H. Novetsky, Danielle E. 30 1 40 44 Triple A or Allgrove Syndrome. A Case Report with Ophthalmic Abnormalities and a Novel Mutation in the AAAS Gene http://www.informaworld.com/smpp/content~content=a908190934~db=all~jumptype=rss Zenteno, Juan Carlos Rivera-Parra, David Martínez-Guzmán, Oswaldo Villanueva-Mendoza, Cristina 30 1 45 49 Cystoid Macular Edema in a Patient with Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy http://www.informaworld.com/smpp/content~content=a908179369~db=all~jumptype=rss Pulido, Jose S. Mohney, Brian G. Brubaker, Jacob W. 30 1 50 53 LCA5 , a Rare Genetic Cause of Leber Congenital Amaurosis in Koreans http://www.informaworld.com/smpp/content~content=a908180339~db=all~jumptype=rss Park, Sung Sup Kim, Ji Yeon Hwang, Jeong-Min Yu, Young Suk Seong, Moon-Woo Kim, Seong Yeon 30 1 54 55 Genetic Isolates in Ophthalmic Diseases http://www.informaworld.com/smpp/content~content=a905443945~db=all~jumptype=rss Mackey, David A. Ruddle, Jonathan B. Hewitt, Alex W. Sherwin, Justin C. 29 4 149 161 John Dalton: Though in Error, He Still Influenced Our Understanding of Congenital Color Deficiency http://www.informaworld.com/smpp/content~content=a905456687~db=all~jumptype=rss Fishman, Gerald A. 29 4 162 165 Glucocorticoid Receptor Polymorphisms and Intraocular Pressure Response to Intravitreal Triamcinolone Acetonide http://www.informaworld.com/smpp/content~content=a905445228~db=all~jumptype=rss Schwartz, Stephen G. Fini, M. Elizabeth Puliafito, Carmen A. Young, Brandon Tsinoremas, Nicholas F. Cervino, Alessandra C. L. Pletcher, Mathew T. Gerzenstein, Sabrina M. 29 4 166 170 Genetic Heritability of a Shallow Anterior Chamber in Chinese Families with Primary Angle Closure Glaucoma http://www.informaworld.com/smpp/content~content=a905453028~db=all~jumptype=rss Yuan, Chang Ming Yin, Zheng Qin Pen, Hui Min Tu, Yun Shu 29 4 171 176 The Association of an Epibulbar Dermoid and Duane Syndrome in a Patient with a SALL1 Mutation (Townes-Brocks Syndrome) http://www.informaworld.com/smpp/content~content=a905449454~db=all~jumptype=rss Reddy, M. Ashwin Barry, John S. 29 4 177 180 Aicardi Syndrome in a Genotypic Male http://www.informaworld.com/smpp/content~content=a905453717~db=all~jumptype=rss Traboulsi, Elias I. Parikh, Sumit Reid, Janet Chappelow, Aimee V. 29 4 181 183 Vitreous Veils and Radial Lattice in Marshall Syndrome http://www.informaworld.com/smpp/content~content=a905459797~db=all~jumptype=rss Babovic-Vuksanovic, Dusica Pulido, Jose S. Mohney, Brian G. Brubaker, Jacob W. 29 4 184 185 Low Dose Irradiation for Diffuse Choroidal Hemangioma http://www.informaworld.com/smpp/content~content=a905457431~db=all~jumptype=rss Singh, Arun D. Macklis, Roger M. Anderson, Carryn Grant, Lorna W. 29 4 186 188 Posterior Microphthalmos Versus Nanophthalmos http://www.informaworld.com/smpp/content~content=a905449071~db=all~jumptype=rss Khan, Arif O. 29 4 189 189 Errata http://www.informaworld.com/smpp/content~content=a905452224~db=all~jumptype=rss 29 4 190 190 Errata http://www.informaworld.com/smpp/content~content=a905445009~db=all~jumptype=rss 29 4 191 192 Successful RPE65 Gene Replacement and Improved Visual Function in Humans http://www.informaworld.com/smpp/content~content=a902123338~db=all~jumptype=rss Koenekoop, Robert K. 29 3 89 91 Leber Congenital Amaurosis: From Darkness to Spotlight http://www.informaworld.com/smpp/content~content=a902123260~db=all~jumptype=rss Kaplan, Josseline 29 3 92 98 Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier http://www.informaworld.com/smpp/content~content=a902123449~db=all~jumptype=rss Bonilha, Vera L. Trzupek, Karmen M. Li, Yong Francis, Peter J. Hollyfield, Joe G. Rayborn, Mary E. Weleber, Richard G. Smaoui, Nizar 29 3 99 110 The Role of Mitochondrial Haplogroups in Non-arteritic Anterior Ischemic Optic Neuropathy http://www.informaworld.com/smpp/content~content=a902123519~db=all~jumptype=rss González, Ana M. Larruga, Jose M. Bosley, Thomas M. Abu-Amero, Khaled K. 29 3 111 116 Trilateral Retinoblastoma with Pituitary-Hypothalamic Dysfunction http://www.informaworld.com/smpp/content~content=a902123496~db=all~jumptype=rss Drake, James Chan, Helen S. L. Budning, Andrew Dai, Shuan Héon, Elise Dimaras, Helen Doyle, John Gallie, Brenda L. Halliday, William 29 3 120 125 Familial Aortic Dissection and Congenital Iris Flocculi with Hypertension http://www.informaworld.com/smpp/content~content=a902123412~db=all~jumptype=rss Kowitoonkij, Weerapan Phowthongkum, Prasit Burapasubkajorn, Patinut Intarabeth, Pongsak Buddhari, Wasin 29 3 126 127 Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a Proven BBS1 Mutation http://www.informaworld.com/smpp/content~content=a902123426~db=all~jumptype=rss Lloyd, I. Christopher Beales, Philip L. Clayton-Smith, Jill Cannon, Paul S. 29 3 128 132 Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2 http://www.informaworld.com/smpp/content~content=a902123366~db=all~jumptype=rss Weleber, Richard G. Grant, Elizabeth A. Trzupek, Karmen M. Reiss, Jacob Crow, Kate Messiaen, Ludwine 29 3 133 138 Mutation Analysis of the VMD2 Gene in Thai Families with Best Macular Dystrophy http://www.informaworld.com/smpp/content~content=a902123228~db=all~jumptype=rss Thongnoppakhun, Wanna Atchaneeyasakul, La-ongsri Jinda, Worapoj Sakolsatayadorn, Natta Trinavarat, Adisak Ruangvoravate, Ngamkae Thanasombatskul, Nualanong Limwongse, Chanin 29 3 139 144 PAX6 Analysis of Two Unrelated Families from the Arabian Peninsula with Classic Hereditary Aniridia http://www.informaworld.com/smpp/content~content=a902123313~db=all~jumptype=rss Aldahmesh, Mohammad A. Khan, Arif O. 29 3 145 148