|
Genetic Disorders
Citations 141-150 of 188 total displayed.
|
Past content
(since May 1998):
|
- Ophthalmic Molecular Genetics
Autosomal Dominant Macular Degeneration Associated With 208delG Mutation in the FSCN2 Gene
- Yuko Wada; Toshiaki Abe; Toshitaka Itabashi; Hajime Sato; Miyuki Kawamura; Makoto Tamai
Arch Ophthalmol 2003; 121: 1613-1620.
[Abstract]
[Full text]
[PDF]
- Ophthalmic Molecular Genetics
A Peculiar Autosomal Dominant Macular Dystrophy Caused by an Asparagine Deletion at Codon 169 in the Peripherin/RDS Gene
- Janneke J. C. van Lith-Verhoeven; Bellinda van den Helm; August F. Deutman; Arthur A. B. Bergen; Frans P. M. Cremers; Carel B. Hoyng; Paulus T. V. M. de Jong
Arch Ophthalmol 2003; 121: 1452-1457.
[Abstract]
[Full text]
[PDF]
- Clinical Sciences
Biological Safety Assessment of Docosahexaenoic Acid Supplementation in a Randomized Clinical Trial for X-Linked Retinitis Pigmentosa
- Dianna H. Wheaton; Dennis R. Hoffman; Kirsten G. Locke; Reginald B. Watkins; David G. Birch
Arch Ophthalmol 2003; 121: 1269-1278.
[Abstract]
[Full text]
[PDF]
- Ophthalmic Molecular Genetics
Status of the NF1 Tumor Suppressor Locus in Uveal Melanoma
- William J. Foster; Christine E. Fuller; Arie Perry; J. William Harbour
Arch Ophthalmol 2003; 121: 1311-1315.
[Abstract]
[Full text]
[PDF]
- Ophthalmic Molecular Genetics
Shared Mutations in NR2E3 in Enhanced S-cone Syndrome, Goldmann-Favre Syndrome, and Many Cases of Clumped Pigmentary Retinal Degeneration
- Dror Sharon; Michael A. Sandberg; Rafael C. Caruso; Eliot L. Berson; Thaddeus P. Dryja
Arch Ophthalmol 2003; 121: 1316-1323.
[Abstract]
[Full text]
[PDF]
- Laboratory Sciences
Alterations in Corneal Stromal Dendritic Cell Phenotype and Distribution in Inflammation
- Pedram Hamrah; Ying Liu; Qiang Zhang; M. Reza Dana
Arch Ophthalmol 2003; 121: 1132-1140.
[Abstract]
[Full text]
[PDF]
- Ophthalmic Molecular Genetics
Glaucoma Phenotype in Pedigrees With the Myocilin Thr377Met Mutation
- David A. Mackey; Danielle L. Healey; John H. Fingert; Michael A. Coote; Tiffany L. Wong; Colleen H. Wilkinson; Paul J. McCartney; Julian L. Rait; A. Pauline de Graaf; Edwin M. Stone; Jamie E. Craig
Arch Ophthalmol 2003; 121: 1172-1180.
[Abstract]
[Full text]
[PDF]
- Ophthalmic Molecular Genetics
Lack of Association of Mutations in Optineurin With Disease in Patients With Adult-onset Primary Open-angle Glaucoma
- Janey L. Wiggs; Josette Auguste; R. Rand Allingham; Jason D. Flor; Margaret A. Pericak-Vance; Kathryn Rogers; Karen R. LaRocque; Felicia L. Graham; Bob Broomer; Elizabeth Del Bono; Jonathan L. Haines; Michael Hauser
Arch Ophthalmol 2003; 121: 1181-1183.
[Abstract]
[Full text]
[PDF]
- Ophthalmic Molecular Genetics
Genomewide Homozygosity Mapping and Molecular Analysis of a Candidate Gene Located on 22q13 (Fibulin-1) in a Previously Undescribed Vitreoretinal Dystrophy
- Maike Weigell-Weber; Gian-Marco Sarra; Dieter Kotzot; Lodewijk Sandkuijl; Elmar Messmer; Martin Hergersberg
Arch Ophthalmol 2003; 121: 1184-1188.
[Abstract]
[Full text]
[PDF]
- Ophthalmic Molecular Genetics
Mutations in the Myocilin Gene in Families With Primary Open-angle Glaucoma and Juvenile Open-angle Glaucoma
- Mirella Bruttini; Ilaria Longo; Paolo Frezzotti; Rossella Ciappetta; Alessandro Randazzo; Nicola Orzalesi; Elena Fumagalli; Aldo Caporossi; Renato Frezzotti; Alessandra Renieri
Arch Ophthalmol 2003; 121: 1034-1038.
[Abstract]
[Full text]
[PDF]
|
|
