Works matching Genetics of eye diseases

Results: 397

Hope and major strides for genetic diseases of the eye.

Published in:

Journal of Genetics, 2009, v. 88, n. 4, p. 395, doi. 10.1007/s12041-009-0060-8

By:

TRABOULSI, ELIAS I.

Publication type:

Article

Genetic Diseases of the Eye.

Published in:

2012

By:

Jay, Walter M.

Publication type:

Book Review

The AAO recommends avoiding routine genetic testing for genetically complex disorders such as age-related macular degeneration in recently issued specific recommendations for genetic testing of inherited eye diseases. For approximately what percentage of your overall patient base do you recommend genetic testing?

Published in:: Ocular Surgery News, 2012, v. 30, n. 8, p. 4
Publication type:: Article

Knowledge of genetic eye diseases and genetic services and attitudes toward genetic testing and gene therapy.

Published in:

Taiwan Journal of Ophthalmology, 2021, v. 11, n. 4, p. 372, doi. 10.4103/tjo.tjo_34_21

By:

Ganne, Pratyusha;
Damagatla, Manikanta;
Naidu, Navya

Publication type:

Article

Burden and clinical profile of genetic eye diseases in children in Nigeria: a descriptive cross-sectional study.

Published in:

Pan African Medical Journal, 2023, v. 45, p. 1, doi. 10.11604/pamj.2023.45.150.40668

By:

Monye, Henrietta Ifechukwude;
Olawoye, Olusola Oluyinka;
Ugalahi, Mary Ogbenyi;
Oluleye, Tunji Sunday;
Ashaye, Adeyinka Olusola

Publication type:

Article

Acceptability of Telegenetics for Families with Genetic Eye Diseases.

Published in:

Genes, 2021, v. 12, n. 2, p. 276, doi. 10.3390/genes12020276

By:

Bell, Suzannah;
Karamchandani, Urvi;
Malcolmson, Kirsten;
Moosajee, Mariya;
Semina, Elena

Publication type:

Article

Genetic Diagnostic Methods for Inherited Eye Diseases.

Published in:

Middle East African Journal of Ophthalmology, 2011, v. 18, n. 1, p. 24, doi. 10.4103/0974-9233.75881

By:

Gabriel, Luis A. R.;
Traboulsi, Elias I.

Publication type:

Article

Twin studies in inherited eye disease.

Published in:

Clinical & Experimental Ophthalmology, 2014, v. 42, n. 1, p. 84, doi. 10.1111/ceo.12233

By:

Nag, Abhishek;
Hammond, Christopher J

Publication type:

Article

Genetic Eye Diseases in Animals: A Selected Review of Recent Advances.

Published in:

Animal Genetics, 2024, v. 55, n. 5, p. 711, doi. 10.1111/age.13460

By:

Komáromy, A. M.;
Lenstra, J. A.

Publication type:

Article

Understanding and perceptions of inherited eye diseases and attitudes to genetic testing and gene therapy in a primary eye care setting.

Published in:

2015

By:

Ganne, P.;
Votruba, M.;
Garrioch, R.

Publication type:

Abstract

Parental genetic knowledge and attitudes toward childhood genetic testing for inherited eye diseases.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1402

By:

Zhang, Yu;
Huang, Sijian;
Xiao, Huiming;
Ding, Xiaoyan

Publication type:

Article

Genetic and Metabolic Eye Disease (Book).

Published in:

1974

By:

Alter, Milton

Publication type:

Book Review

Genetic counseling practice for inherited eye diseases in an Israeli medical center during the COVID‐19 pandemic.

Published in:

Journal of Genetic Counseling, 2021, v. 30, n. 4, p. 969, doi. 10.1002/jgc4.1479

By:

Macarov, Michal;
Schneider, Nina;
Eilat, Avital;
Yahalom, Claudia

Publication type:

Article

Eye disease diagnosis helped by genetic tests.

Published in:: Expert Review of Ophthalmology, 2007, v. 2, n. 2, p. 155, doi. 10.1586/17469899.2.2.155
Publication type:: Article

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03242-6

By:

Lopez-de la Rosa, Alberto;
Telleria, Juan J.;
Posada de la Paz, Manuel;
Hermosilla-Gimeno, Isabel M.;
Rivas, Miren Agurtzane;
Gilabert, Raúl;
Coco-Martín, Rosa M.

Publication type:

Article

Looking to the future of zebrafish as a model to understand the genetic basis of eye disease.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 993, doi. 10.1007/s00439-019-02055-z

By:

Cavodeassi, Florencia;
Wilson, Stephen W.

Publication type:

Article

Genetic eye research in Tasmania: a historical overview.

Published in:

Clinical & Experimental Ophthalmology, 2012, v. 40, n. 2, p. 205, doi. 10.1111/j.1442-9071.2011.02728.x

By:

Mackey, David A

Publication type:

Article

The Guangzhou Twin Project.

Published in:

Twin Research & Human Genetics, 2006, v. 9, n. 6, p. 753, doi. 10.1375/twin.9.6.753

By:

Mingguang He;
Jian Ge;
Yingfeng Zheng;
Wenyong Huang;
Junwen Zeng

Publication type:

Article

Understanding the impact of genetic testing for inherited retinal dystrophy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1209, doi. 10.1038/ejhg.2013.19

By:

Combs, Ryan;
McAllister, Marion;
Payne, Katherine;
Lowndes, Jo;
Devery, Sophie;
Webster, Andrew R;
Downes, Susan M;
Moore, Anthony T;
Ramsden, Simon;
Black, Graeme;
Hall, Georgina

Publication type:

Article

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 24, p. 3987, doi. 10.1093/hmg/ddn302

By:

Moosajee, Mariya;
Gregory-Evans, Kevin;
Ellis, Charles D.;
Seabra, Miguel C.;
Gregory-Evans, Cheryl Y.

Publication type:

Article

Ocular Genetics: A Sub-specialty Service for Genetic Eye Diseases.

Published in:

2013

By:

Ganesh, Anuradha;
Al-Mujaini, Abdullah

Publication type:

Editorial

Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03242-6

By:

Lopez-de la Rosa, Alberto;
Telleria, Juan J.;
Posada de la Paz, Manuel;
Hermosilla-Gimeno, Isabel M.;
Rivas, Miren Agurtzane;
Gilabert, Raúl;
Coco-Martín, Rosa M.

Publication type:

Article

Practical guide to genetic screening for inherited eye diseases.

Published in:

Therapeutic Advances in Ophthalmology, 2020, p. 1, doi. 10.1177/2515841420954592

By:

Méjécase, Cécile;
Malka, Samantha;
Guan, Zeyu;
Slater, Amy;
Arno, Gavin;
Moosajee, Mariya

Publication type:

Article

Practical guide to genetic screening for inherited eye diseases.

Published in:

Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420954592

By:

Méjécase, Cécile;
Malka, Samantha;
Guan, Zeyu;
Slater, Amy;
Arno, Gavin;
Moosajee, Mariya

Publication type:

Article

Practical guide to genetic screening for inherited eye diseases.

Published in:

Therapeutic Advances in Ophthalmology, 2020, v. 12, p. 1, doi. 10.1177/2515841420954592

By:

Méjécase, Cécile;
Malka, Samantha;
Guan, Zeyu;
Slater, Amy;
Arno, Gavin;
Moosajee, Mariya

Publication type:

Article

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2016, v. 46, n. 6, p. 299, doi. 10.4274/tjo.59375

By:

Şekeroğlu, Hande Taylan;
Utine, Gülen Eda;
Alikaşifoğlu, Mehmet

Publication type:

Article

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 274

By:

Grønskov, Karen;
Rosenberg, Thomas;
Sand, Annie;
Brøndum-Nielsen, Karen

Publication type:

Article

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Published in:

NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00352-1

By:

Schlottmann, Patricio G.;
Luna, José D.;
Labat, Natalia;
Yadarola, María Belén;
Bainttein, Silvina;
Esposito, Evangelina;
Ibañez, Agustina;
Barbaro, Evangelina Ivón;
Álvarez Mendiara, Alejandro;
Picotti, Carolina P.;
Chirino Misisian, Andrea;
Andreussi, Luciana;
Gras, Julieta;
Capalbo, Luciana;
Visotto, Mauro;
Dipierri, José E.;
Alcoba, Emilio;
Fernández Gabrielli, Laura;
Ávila, Silvia;
Aucar, María Emilia

Publication type:

Article

Hochdurchsatz-Sequenzierung in der Humangenetischen Diagnostik / Next-generation sequencing in genetic diagnostics.

Published in:

Journal of Laboratory Medicine / Laboratoriums Medizin, 2010, v. 34, n. 6, p. 305, doi. 10.1515/JLM.2010.056

By:

Biskup, Saskia

Publication type:

Article

Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.

Published in:

BMC Ophthalmology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12886-023-03143-5

By:

Hollitt, Georgina L;
Qassim, Ayub;
Thomson, Daniel;
Schmidt, Joshua M;
Nguyen, Thi Thi;
Landers, John;
MacGregor, Stuart;
Siggs, Owen M;
Souzeau, Emmanuelle;
Craig, Jamie E

Publication type:

Article

Traboulsi syndrome: A rare eye disease and its genetic association.

Published in:

TNOA Journal of Ophthalmic Science & Research, 2023, v. 61, n. 1, p. 41, doi. 10.4103/tjosr.tjosr_117_22

By:

Chermakani, Prakash;
Sundaresan, Periasamy

Publication type:

Article

Genome-wide association studies: applications and insights gained in Ophthalmology.

Published in:

Eye (0950-222X), 2014, v. 28, n. 9, p. 1066, doi. 10.1038/eye.2014.145

By:

Chandra, A;
Mitry, D;
Wright, A;
Campbell, H;
Charteris, D G

Publication type:

Article

The association between lumican gene polymorphisms and high myopia.

Published in:

Eye (0950-222X), 2010, v. 24, n. 6, p. 1093, doi. 10.1038/eye.2009.254

By:

Lin, H.-J.;
Wan, L.;
Tsai, Y.;
Chen, W.-C.;
Tsai, S.-W.;
Tsai, F.-J.

Publication type:

Article

Prevalence of cystic macular lesions in patients with Usher II syndrome.

Published in:

Eye (0950-222X), 2009, v. 23, n. 5, p. 1206, doi. 10.1038/eye.2008.105

By:

Walia, S.;
Fishman, G. A.;
Hajali, M.

Publication type:

Article

Fabry disease manifesting as chronic uveitis—treated with enzyme replacement therapy.

Published in:

2007

By:

Shen, Y.-D.;
Yang, C.-M.;
Huang, J.-S.

Publication type:

Letter

Genetic Testing for Inherited Eye Disease.

Published in:

JAMA Ophthalmology, 2013, v. 131, n. 10, p. 1265, doi. 10.1001/jamaophthalmol.2013.4509

By:

Wiggs, Janey L.;
Pierce, Eric A.

Publication type:

Article

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

Published in:

2018

By:

van Trier, Dorothée C.;
van der Burgt, Ineke;
Draaijer, Renske W.;
Cruysberg, Johannes R. M.;
Noordam, Cees;
Draaisma, Jos M.

Publication type:

journal article

Gene therapy in glaucoma-part 2: Genetic etiology and gene mapping.

Published in:

Oman Journal of Ophthalmology, 2010, v. 3, n. 2, p. 51, doi. 10.4103/0974-620X.64227

By:

Abdel-Monem Soliman Mahdy, Mohamed

Publication type:

Article

Association of G>A transition in exon-1 of alpha crystallin gene in age-related cataracts.

Published in:

Oman Journal of Ophthalmology, 2010, v. 3, n. 1, p. 7, doi. 10.4103/0974-620X.60014

By:

Bhagyalaxmi, S. G.;
Padma, T.;
Reddy, G. B.;
Reddy, K. R. K.

Publication type:

Article

Primary Congenital Glaucoma and the Involvement of CYP1B1.

Published in:

Middle East African Journal of Ophthalmology, 2011, v. 18, n. 1, p. 7, doi. 10.4103/0974-9233.75878

By:

Kaur, Kiranpreet;
Mandal, Anil K.;
Chakrabarti, Subhabrata

Publication type:

Article

Seeing progress in high-tech care.

Published in:

Optometry Times, 2012, v. 4, n. 5, p. 10

By:

Smick, Kirk

Publication type:

Article

Ethical challenges and education.

Published in:

2014

By:

Raju, V. K.

Publication type:

Letter to the Editor

Knowledge in ocular genetics will be expanded to more common diseases.

Published in:

Ocular Surgery News, 2014, v. 32, n. 14, p. 3

By:

Lindstrom, Richard L.

Publication type:

Article

Ocular gene therapy ramping up for commercialization.

Published in:

Ocular Surgery News, 2014, v. 32, n. 14, p. 1

By:

Kronemyer, Bob

Publication type:

Article

Gene marker associated with myopia and general progression of refractive error.

Published in:

Ocular Surgery News, 2009, v. 27, n. 19, p. 36

By:

Boyle, Erin L.;
Hasson, Matt

Publication type:

Article

Genetics will provide many opportunities for ophthalmologists.

Published in:

2009

By:

Lindstrom, Richard L.

Publication type:

Editorial

A novel fusion of genetic grey wolf optimization and kernel extreme learning machines for precise diabetic eye disease classification.

Published in:

PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0303094

By:

Khan, Abdul Qadir;
Sun, Guangmin;
Khalid, Majdi;
Imran, Azhar;
Bilal, Anas;
Azam, Muhammad;
Sarwar, Raheem

Publication type:

Article

The iris -- a window into the genetics of common and rare eye diseases.

Published in:

Ulster Medical Journal, 2010, v. 79, n. 1, p. 3

By:

Morrison, Patrick J.

Publication type:

Article

What' in a Gene? Pseudoexfoliation Syndrome and Pigment Dispersion Syndrome in the Same Patient.

Published in:

2016

By:

Pokrovskaya, Olya;
O''Brien, Colm

Publication type:

Case Study

Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report.

Published in:

2015

By:

RIAZI ESFAHANI, MOHAMMAD;
RIAZI ESFAHANI, HAMID;
MAHMOUDI, ALIREZA;
KARIM JOHARI, MOHAMMAD;
HEMATI, KARIM

Publication type:

Case Study