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Genetic Disorders

Citations 151-160 of 188 total displayed.

Past content (since May 1998):

Clinicopathologic Reports, Case Reports, and Small Case Series
A New Syndrome of Hereditary Congenital Corneal Opacities, Cornea Guttata, and Corectopia
Jeong-Min Hwang; Daniel C. Chung; Elias I. Traboulsi
Arch Ophthalmol 2003; 121: 1053-1054. [Extract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Long-term Fundus Changes Due to Fundus Albipunctatus Associated With Mutations in the RDH5 Gene
Keigo Sekiya; Mitsuru Nakazawa; Hiroshi Ohguro; Tomoaki Usui; Naoyuki Tanimoto; Haruki Abe
Arch Ophthalmol 2003; 121: 1057-a-1059-a. [Extract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Management of Retinal Detachment in Osteogenesis Imperfecta
Dean Eliott; Kourous A. Rezai; A. Bawa Dass; John Lewis
Arch Ophthalmol 2003; 121: 1062-1064. [Extract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Pseudotumor Cerebri Induced by All-trans Retinoic Acid Treatment of Acute Promyelocytic Leukemia
Michael Colucciello
Arch Ophthalmol 2003; 121: 1064-1065. [Extract] [Full text] [PDF]  

Clinical Sciences
Phenotype of Retinitis Pigmentosa Associated With the Ser50Thr Mutation in the NRL Gene
David A. R. Bessant; Graham E. Holder; Frederick W. Fitzke; Annette M. Payne; Shomi S. Bhattacharya; Alan C. Bird
Arch Ophthalmol 2003; 121: 793-802. [Abstract] [Full text] [PDF]  

Clinical Sciences
Retinal Function in Carriers of Bardet-Biedl Syndrome
Gerald F. Cox; Ronald M. Hansen; Nicole Quinn; Anne B. Fulton
Arch Ophthalmol 2003; 121: 804-810. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Immunohistochemical and Molecular Genetic Evidence for Type IV Collagen {alpha}5 Chain Abnormality in the Anterior Lenticonus Associated With Alport Syndrome
Shinji Ohkubo; Hisashi Takeda; Tomomi Higashide; Mari Ito; Mayumi Sakurai; Yutaka Shirao; Takashi Yanagida; Yoshio Oda; Yoshikazu Sado
Arch Ophthalmol 2003; 121: 846-850. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
ABCA4 Gene Sequence Variations in Patients With Autosomal Recessive Cone-Rod Dystrophy
Gerald A. Fishman; Edwin M. Stone; David A. Eliason; Chris M. Taylor; Martin Lindeman; Deborah J. Derlacki
Arch Ophthalmol 2003; 121: 851-855. [Abstract] [Full text] [PDF]  

Epidemiology
Lack of an Association of Apolipoprotein E Gene Polymorphisms With Familial Age-Related Macular Degeneration
Dennis W. Schultz; Michael L. Klein; Andrea Humpert; Jacek Majewski; Mitchell Schain; Richard G. Weleber; Jurg Ott; Ted S. Acott
Arch Ophthalmol 2003; 121: 679-683. [Abstract] [Full text] [PDF]  

Clinicopathologic Reports, Case Reports, and Small Case Series
Microcornea and Subluxated Lenses Due to a Splicing Error in the Fibrillin-1 Gene in a Patient With Marfan Syndrome
Mark C. Vital; Helen A. Mintz-Hittner; Dianna M. Milewicz
Arch Ophthalmol 2003; 121: 579-581. [Extract] [Full text] [PDF]  

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