Volume 25; Issue 1

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Ophthalmic Genetics
Volume 25; Issue 1

Ophthalmic Genetics

Volume 25; Issue 1

1

Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene

Rudolph, Günther, Preising, Markus, Kalpadakis, Petros, Haritoglou, Christos, Lang, Gabriele E., Lorenz, Birgit

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 41 KB

english, 2004

2

Fluorine-18 fluorodeoxyglucose positron emission tomography (PET) to detect vital retinoblastoma in the eye: Preliminary experience

Moll, A.C., Hoekstra, O.S., Imhof, S.M., Comans, E.F., Meeteren, A.Y.N. Schouten-van, van der Valk, P., Boers, M.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 83 KB

english, 2004

3

Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma

Markandaya, M., Ramesh, T.K., Selvaraju, V., Dorairaj, Syril K., Prakash, Ravi, Shetty, Jyoti, Kumar, A.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 185 KB

english, 2004

4

Announcement

Journal:

Ophthalmic Genetics

Year:

2004

File:

PDF, 32 KB

2004

5

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador

Curry, Stacey M., Daou, Aline G., Hermanns, Pia, Molinari, Andrea, Lewis, Richard Alan, Bejjani, Bassem A.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 149 KB

english, 2004

6

Lack of activity of oral etoposide for relapsed intraocular retinoblastoma

Dunkel, Ira J., Chantada, Guillermo L., Fandiño, Adriana C., Abramson, David H.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 76 KB

english, 2004

7

A second primary tumor in a patient with retinoma

Korswagen, Lindy-Anne, Moll, Annette C., Imhof, Saskia M., Meeteren, Antoinette Y.N. Schouten-van

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

8

Book Review

Weleber, Richard G.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 43 KB

english, 2004

9

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome

Brooks, Brian P., Moroi, Sayoko E., Downs, Catherine A., Wiltse, Shannon, Othman, Mohammad I., Semina, Elena V., Richards, Julia E.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 110 KB

english, 2004

10

Activity of topotecan in retinoblastoma

Chantada, Guillermo L., Fandiñ, Adriana C., Casak, Sandra J., Mato, Gabriel, Manzitti, Julio, Schvartzman, Enrique

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 118 KB

english, 2004

11

Ocular manifestations of mosaic trisomy 22: A case report and review of the literature

Thomas, S., Parker, M., Tan, J., Duckett, D., Woodruff, G.

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 84 KB

english, 2004

12

Neurofibromatosis type 1 associated with central nervous system lymphoma

Zein, Ghassan, Yu, Ellen, Tawansy, Khaled, Berta, András, Foster, C. Stephen

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 150 KB

english, 2004