Works matching IS 1381-6810 AND VI 34 AND IP 4 AND DT 2013

Results: 12

Association of Single Nucleotide Polymorphisms in CFH, ARMS2 and HTRA1 Genes with Risk of Age-related Macular Degeneration in Egyptian Patients.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 209, doi. 10.3109/13816810.2012.762934

By:

Abbas, Radwa O.;
Azzazy, Hassan M. E.

Publication type:

Article

Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma<sup>1</sup>.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 189, doi. 10.3109/13816810.2012.755553

By:

Ottaviani, Daniela;
Parma, Diana;
Giliberto, Florencia;
Ferrer, Marcela;
Fandino, Adriana;
Davila, Maria Teresa;
Chantada, Guillermo;
Szijan, Irene

Publication type:

Article

Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 243, doi. 10.3109/13816810.2012.755631

By:

Chacón-Camacho, Oscar;
Arce-Gonzalez, Rocio;
Granillo-Alvarez, Mariella;
Flores-Limas, Sanjuanita;
Ramírez, Magdalena;
Zenteno, Juan C.

Publication type:

Article

Copy Number Variant Analysis in CHM to Detect Duplications Underlying Choroideremia.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 229, doi. 10.3109/13816810.2012.752016

By:

Chi, Jonathan Y.;
MacDonald, Ian M.;
Hume, Stacey

Publication type:

Article

Clinical Findings and Molecular Diagnosis of Retinoblastoma in Older Children.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 238, doi. 10.3109/13816810.2012.752015

By:

Sheck, Leo H. N.;
Ng, Yvonne S. P.;
Watson, Mike;
Vincent, Andrea L.

Publication type:

Article

Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 183, doi. 10.3109/13816810.2012.762932

By:

Utz, Virginia M.;
Beight, Craig D.;
Marino, Meghan J.;
Hagstrom, Stephanie A.;
Traboulsi, Elias I.

Publication type:

Article

Ophthalmologic Observations in a Patient with Partial Mosaic Trisomy 8.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 249, doi. 10.3109/13816810.2012.762933

By:

Abu-Amero, Khaled K.;
Kondkar, Altaf A.;
Salih, Mustafa A.;
Al-Husain, Muneera;
Al Shammari, Muneera;
Zeidan, Ghassan;
Oystreck, Darren T.;
Hellani, Ali M.;
Kentab, Amal Y.;
Bosley, Thomas M.

Publication type:

Article

Raine Eye Health Study: Design, Methodology and Baseline Prevalence of Ophthalmic Disease in a Birth-cohort Study of Young Adults.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 199, doi. 10.3109/13816810.2012.755632

By:

Yazar, Seyhan;
Forward, Hannah;
McKnight, Charlotte M.;
Tan, Alex;
Soloshenko, Alla;
Oates, Sandra K.;
Ang, Wei;
Sherwin, Justin C.;
Wood, Diane;
Mountain, Jenny A.;
Pennell, Craig E.;
Hewitt, Alex W.;
Mackey, David A.

Publication type:

Article

Severe Myopia with Unusual Retinal Anomalies and Dandy-Walker Sequence in Two Sibs. A Distinct New Neuro-ocular Disorder.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 254, doi. 10.3109/13816810.2013.763992

By:

de Crecchio, Giuseppe;
Cennamo, Gilda;
de Leeuw, Nicole;
Ventruto, Maria Luisa;
Lonardo, Maria Concetta;
Friso, Patrizia;
Ventruto, Valerio

Publication type:

Article

The Role of MMP2 ( -1306C>T) and TIMP2 (- 418 G>C) Promoter Variants in Age-related Macular Degeneration.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 217, doi. 10.3109/13816810.2013.781192

By:

Ortak, Huseyin;
Demir, Selim;
Ateş, Ömer;
Benli, İsmail;
Söğüt, Erkan;
Sahin, Mehmet

Publication type:

Article

Identification of a Novel LCA6 Mutation in an Emirati Family.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 234, doi. 10.3109/13816810.2012.755552

By:

Fakhratova, Malika

Publication type:

Article

Analysis of Catalase SNP rs1001179 in Saudi patients with Primary Open Angle Glaucoma.

Published in:

Ophthalmic Genetics, 2013, v. 34, n. 4, p. 223, doi. 10.3109/13816810.2013.789534

By:

Abu-Amero, Khaled K.;
Kondkar, Altaf A.;
Mousa, Ahmed;
Osman, Essam A.;
Al-Obeidan, Saleh A.

Publication type:

Article