Volume 27; Issue 4

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Ophthalmic Genetics
Volume 27; Issue 4

Ophthalmic Genetics

Volume 27; Issue 4

1

Juvenile Cataracts in a Patient with Histidinuria: Case Report

Santacana-Laffitte, Guido, Izquierdo, Natalio J., Lladó, José R., Maumenee, Irene H.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 1.24 MB

english, 2006

2

Mutation Screen of the Cone-Specific Gene, CLUL1 , in 376 Patients with Age-Related Macular Degeneration

Sturgill, Gwen M., Pauer, Gayle J. T., Bala, Elisa, Simpson, Ellen, Yaniglos, Stacia S., Crabb, John W., Hollyfield, Joe G., Lewis, Hilel, Peachey, Neal S., Hagstrom, Stephanie A.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 85 KB

english, 2006

3

A Splice-Site Mutation in CCM1/KRIT1 is Associated with Retinal and Cerebral Cavernous Hemangioma

Kitzmann, Anna S., Pulido, Jose S., Ferber, Matthew J., Highsmith, W. Edward, Babovic-Vuksanovic, Dusica

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 632 KB

english, 2006

4

Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis

Traboulsi, Elias I., Koenekoop, Robert, Stone, Edwin M.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 358 KB

english, 2006

5

Ocular Findings in Gillespie-Like Syndrome: Association with a New PAX6 Mutation

Ticho, Benjamin H., Hilchie-Schmidt, Clair, Egel, Robert T., Traboulsi, Elias I., Howarth, Rachel J., Robinson, David

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 905 KB

english, 2006

6

The Role of Rds in Outer Segment Morphogenesis and Human Retinal Disease

Farjo, Rafal, Naash, Muna I.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 3.72 MB

english, 2006

7

Ependymal Tissue in Microphthalmia with Cyst

Lorenz, Birgit, Elflein, Heike M., Hofstädter, Ferdinand

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 2.49 MB

english, 2006

8

Late-Onset Central Areolar Choroidal Dystrophy Caused by a Heterozygous Frame-Shift Mutation Affecting Codon 307 of the Peripherin/RDS Gene

Keilhauer, Claudia N., Meigen, Thomas, Stöhr, Heidi, Weber, Bernhard H. F.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 7.98 MB

english, 2006