Works matching IS 1381-6810 AND VI 35 AND IP 1 AND DT 2014

Results: 10

The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 47, doi. 10.3109/13816810.2013.804095

By:

Salvatore, Serena;
Genead, Mohamed A.;
Fishman, Gerald A.

Publication type:

Article

Xq26.3 Microdeletion in a Male with Wildervanck Syndrome.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 18, doi. 10.3109/13816810.2013.766218

By:

Abu-Amero, Khaled K.;
Kondkar, Altaf A.;
Alorainy, Ibrahim A.;
Khan, Arif O.;
Al-Enazy, Leila A.;
Oystreck, Darren T.;
Bosley, Thomas M.

Publication type:

Article

TBK1 and Flanking Genes in Human Retina.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 35, doi. 10.3109/13816810.2013.768674

By:

Fingert, John H.;
Darbro, Benjamin W.;
Qian, Qining;
Van Rheeden, Richard;
Miller, Kathy;
Riker, Megan;
Solivan-Timpe, Frances;
Roos, Ben R.;
Robin, Alan L.;
Mullins, Robert F.

Publication type:

Article

Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 1, doi. 10.3109/13816810.2012.752017

By:

Lim, Sing-Hui;
Germain, Elizabeth St.;
Tran-Viet, Khanh-Nhat;
Staffieri, Sandra;
Marino, Meghan;
Dollfus, Pr Hélène;
Nading, Erica B.;
Crowe, Sue;
Gole, Glen;
Perdomo-Trujillo, Yaumara;
Haybittel, Michael;
Elder, James;
Pelletier, Valérie;
Traboulsi, Elias;
Mackey, David;
Young, Terri L.

Publication type:

Article

Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 25, doi. 10.3109/13816810.2013.768673

By:

Suto, Kimiko;
Hosono, Katsuhiro;
Takahashi, Masayo;
Hirami, Yasuhiko;
Arai, Yuki;
Nagase, Yasunori;
Ueno, Shinji;
Terasaki, Hiroko;
Minoshima, Shinsei;
Kondo, Mineo;
Hotta, Yoshihiro

Publication type:

Article

The Protective Role of the −735C/T and the −1306C/T Polymorphisms of the MMP-2 Gene in the Development of Primary Open-angle Glaucoma.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 41, doi. 10.3109/13816810.2013.800892

By:

Kaminska, Anna;
Banas-Lezanska, Patrycja;
Przybylowska, Karolina;
Gacek, Mira;
Majsterek, Ireneusz;
Szaflik, Jerzy;
Szaflik, Jacek P.

Publication type:

Article

Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 51, doi. 10.3109/13816810.2013.865762

By:

Huynh, Nancy;
Jeffrey, Brett G.;
Turriff, Amy;
Sieving, Paul A.;
Cukras, Catherine A.

Publication type:

Article

VKORC1 C1173T and VKORC1 G-1639A Gene Polymorphisms in Turkish Behçet's Patients with Ocular and Non-ocular Involvement.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 7, doi. 10.3109/13816810.2013.763994

By:

Demir, Helin Deniz;
Ortak, Hüseyin;
Şahin, Şemsettin;
Ateş, Ömer;
Benli, İsmail;
İnanır, Ahmet

Publication type:

Article

Complement Factor B Polymorphism and the Phenotype of Early Age-related Macular Degeneration.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 12, doi. 10.3109/13816810.2013.766217

By:

Mantel, Irmela;
Ambresin, Aude;
Moetteli, Leila;
Droz, Ivaine;
Roduit, Raphaël;
Munier, Francis L.;
Schorderet, Daniel F.

Publication type:

Article

Report of a Novel Mutation in CRB1 in a Lebanese Family Presenting Retinal Dystrophy.

Published in:

Ophthalmic Genetics, 2014, v. 35, n. 1, p. 57, doi. 10.3109/13816810.2013.763995

By:

Jalkh, Nadine;
Guissart, Claire;
Chouery, Eliane;
Yammine, Tony;
Ali, Nagham El;
Farah, Hanane Abi;
Mégarbané, André

Publication type:

Article