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Genetic Disorders

Citations 121-130 of 188 total displayed.

Past content (since May 1998):

Clinicopathologic Reports, Case Reports, and Small Case Series
Photodynamic Therapy for Exudative Hamartoma in Tuberous Sclerosis
Stefan Mennel; Norbert Hausmann; Carsten H. Meyer; Silvia Peter
Arch Ophthalmol 2006; 124: 597-599. [Extract] [Full text] [PDF]  

Clinical Sciences
Immunohistochemical Evaluation of Conjunctival Fibrillin-1 in Marfan Syndrome
Anuradha Ganesh; Charles Smith; Wilson Chan; Sheila Unger; Nada Quercia; Maurice Godfrey; Stephen Kraft; Raymond Buncic; Alex Levin
Arch Ophthalmol 2006; 124: 205-209. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
A Novel Mutation in the GJA1 Gene in a Family With Oculodentodigital Dysplasia
José P. C. Vasconcellos; Mônica B. Melo; Rui B. Schimiti; Norisvaldo C. Bressanim; Fernando F. Costa; Vital P. Costa
Arch Ophthalmol 2005; 123: 1422-1426. [Abstract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Bilateral, Localized Orbital Neurofibromas and Charcot-Marie-Tooth Disease
Riad N. Ma’luf; Baha’ N. Noureddin; Nicola G. Ghazi; Ayman N. Tawil; Suha S. Allam
Arch Ophthalmol 2005; 123: 1443-1445. [Extract] [Full text] [PDF]  

Epidemiology
Genetic Risk of Rhegmatogenous Retinal Detachment: A Familial Aggregation Study
Sioe Lie Go; Carel B. Hoyng; Caroline C. W. Klaver
Arch Ophthalmol 2005; 123: 1237-1241. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
A Novel KIF21A Mutation in a Patient With Congenital Fibrosis of the Extraocular Muscles and Marcus Gunn Jaw-Winking Phenomenon
Koki Yamada; David G. Hunter; Caroline Andrews; Elizabeth C. Engle
Arch Ophthalmol 2005; 123: 1254-1259. [Abstract] [Full text] [PDF]  

Laboratory Sciences
Spontaneous Uveal Amelanotic Melanoma in Transgenic Tyr-RAS+ Ink4a/Arf–/– Mice
William H. Tolleson; Jason C. Doss; John Latendresse; Alan R. Warbritton; William B. Melchior Jr; Lynda Chin; Richard R. Dubielzig; Daniel M. Albert
Arch Ophthalmol 2005; 123: 1088-1094. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Genotype-Phenotype Correlation in 2 Indian Families With Severe Granular Corneal Dystrophy
Chitra Kannabiran; Mittanamalli S. Sridhar; S. Kalyana Chakravarthi; Geeta K. Vemuganti; Meena Lakshmipathi
Arch Ophthalmol 2005; 123: 1127-1133. [Abstract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Aggressive Retinal Astrocytomas in 4 Patients With Tuberous Sclerosis Complex
Jerry A. Shields; Ralph C. Eagle Jr; Carol L. Shields; Brian P. Marr
Arch Ophthalmol 2005; 123: 856-863. [Extract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
A Novel TIMP3 Mutation Associated With Sorsby Fundus Dystrophy
Irene A. Barbazetto; Masanori Hayashi; Christina M. Klais; Lawrence A. Yannuzzi; Rando Allikmets
Arch Ophthalmol 2005; 123: 542-543. [Extract] [Full text] [PDF]  

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