Works matching Genetics of eye diseases

Results: 269

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Progress in Diagnostic Genetic Testing for Inherited Eye Disease.

Published in:

2017

By:

Wiggs, Janey L.

Publication type:

journal article

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

The challenge of an adequate outcome in trials for genetic eye disease such as Leber hereditary optic neuropathy.

Published in:

Clinical & Experimental Ophthalmology, 2019, v. 47, n. 6, p. 704, doi. 10.1111/ceo.13586

By:

Mackey, David A.;
Kearns, Lisa S.

Publication type:

Article

Unlocking the Genetic Mysteries of Eye Diseases: Empowering Patients and Transforming Care.

Published in:

Philippine Journal of Ophthalmology, 2023, v. 48, n. 1, p. 1

By:

Lingao, Michelle D.

Publication type:

Article

Rare eye diseases in India: A concise review of genes and genetics.

Published in:

2022

By:

Jeyabalan, Nallathambi;
Ghosh, Anuprita;
Mathias, Grace;
Ghosh, Arkasubhra;
Mathias, Grace P

Publication type:

journal article

Humangenetische Diagnostik bei hereditären Augenerkrankungen: Was muss der Augenarzt wissen?

Published in:

Die Ophthalmologie, 2023, v. 120, n. 6, p. 679, doi. 10.1007/s00347-023-01878-6

By:

Neuhann, Teresa M.;
Neuhann, Lukas

Publication type:

Article

The molecular genetics of eye diseases.

Published in:

Human Molecular Genetics, 2017, v. 26, p. R1, doi. 10.1093/hmg/ddx222

By:

Haines, Jonathan L.;
Sheffield, Val C.

Publication type:

Article

Genetic and Metabolic Eye Disease (Book).

Published in:

1974

By:

Alter, Milton

Publication type:

Book Review

Goldberg's Genetic and Metabolic Eye Disease.

Published in:

1987

By:

Crombie, A.L.

Publication type:

Book Review

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

Investigators find genetic factors may influence diabetic eye disease: Baseline diabetic retinopathy severity is an important predictor of its progression.

Published in:

Ophthalmology Times Europe, 2021, v. 17, n. 3, p. 6

By:

Krader, Cheryl Guttman;
Lalwani, Geeta

Publication type:

Article

COVID-19: How one ophthalmologist is dealing with non-urgent cases: Pandemic has paved the way for positive changes for genetic eye disease patients.

Published in:

Ophthalmology Times Europe, 2020, v. 16, n. 7, p. 33

By:

Richards, Caroline;
MOOSAJEE, MARIYA

Publication type:

Article

PREIMPLANTAČNÍ GENETICKÁ DIAGNOSTIKA A DĚDIČNÁ ONEMOCNĚNÍ OKA.

Published in:

Czech & Slovak Ophtalmology / Česká a Slovenská Oftalmologie, 2016, v. 72, n. 5, p. 167

By:

L., Hlavatá;
Ľ., Ďuďáková;
M., Trková;
I., Soldátové;
P., Skalická;
B., Kousal;
P., Lišková

Publication type:

Article

The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study.

Published in:

PLoS ONE, 2025, v. 20, n. 2, p. 1, doi. 10.1371/journal.pone.0318492

By:

Kaminer Abargel, Michal;
Macarov, Michal;
Hendler, Karen;
Yahalom, Claudia

Publication type:

Article

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

Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.

Published in:

Scientific Reports, 2017, p. 41871, doi. 10.1038/srep41871

By:

Hubmacher, Dirk;
Schneider, Michael;
Berardinelli, Steven J.;
Takeuchi, Hideyuki;
Willard, Belinda;
Reinhardt, Dieter P.;
Haltiwanger, Robert S.;
Apte, Suneel S.

Publication type:

Article

Consanguinity and Eye Diseases with a Potential Genetic Etiology. Data from a Prevalence Study in Andhra Pradesh, India.

Published in:

Ophthalmic Epidemiology, 2006, v. 13, n. 1, p. 7, doi. 10.1080/09286580500473795

By:

Nirmalan, Praveen K.;
Krishnaiah, Sannapaneni;
Nutheti, Rishita;
Shamanna, Bindiganavale R.;
Rao, Gullapalli N.;
Thomas, Ravi

Publication type:

Article

Associations of genetic liability for Alzheimer's disease with cognition and eye movements in a large, population-based cohort study.

Published in:

Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02093-8

By:

Coors, Annabell;
Imtiaz, Mohammed-Aslam;
Boenniger, Meta M.;
Aziz, N. Ahmad;
Ettinger, Ulrich;
Breteler, Monique M. B.

Publication type:

Article

Perceptions and Understanding of Genetics and Genetic Eye Disease and Attitudes to Genetic Testing and Gene Therapy in a Primary Eye Care Setting.

Published in:

Ophthalmic Genetics, 2015, v. 36, n. 1, p. 50, doi. 10.3109/13816810.2014.985845

By:

Ganne, Pratyusha;
Garrioch, Robert;
Votruba, Marcela

Publication type:

Article

Moleküler biyoloji ve genetikteki gelişmelerin ışığında göz hastalıklarında ileri tanı ve tedavi.

Published in:

Gulhane Medical Journal, 2011, v. 53, n. 1, p. 74

By:

Güran, Şefik

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

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.

Published in:

Acta Ophthalmologica (1755375X), 2020, v. 98, n. 2, p. e181, doi. 10.1111/aos.14181

By:

Li, Shiqiang;
Xiao, Xueshan;
Yi, Zhen;
Sun, Wenmin;
Wang, Panfeng;
Zhang, Qingjiong

Publication type:

Article

Genetic variants in the TNFA are associated with Korean Dry Eye Disease.

Published in:

2015

By:

Yang, S.;
Na, K.S.;
Mok, J.W.;
Ju, H.J.;
Joo, C.K.

Publication type:

Abstract

A 'Fish-eye disease' familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features.

Published in:

European Journal of Clinical Investigation, 1991, v. 21, n. 6, p. 616, doi. 10.1111/j.1365-2362.1991.tb01418.x

By:

CLERC, M.;
DUMON, M. F.;
SESS, D.;
FRENEIX-CLERC, M.;
MACKNESS, M.;
CONRI, C.

Publication type:

Article

What We Fail to See in Neuro-Genetic Diseases: A Bird's Eye View from the Developing World.

Published in:

Annals of Neurosciences, 2021, v. 27, n. 3/4, p. 91, doi. 10.1177/0972753120950069

By:

Samaranayake, Navami;
Dissanayaka, Pulasthi;
Gunarathna, Isuru;
Gonawala, Lakmal;
Wijekoon, Nalaka;
Rathnayake, Pyara;
Sirisena, Darshana;
Gunasekara, Harsha;
Dissanayake, Athula;
Senanayake, Sunethra;
Anand, Akshay;
Satyamoorthy, Kapaettu;
Dalal, Ashwin;
Silva, K. Ranil D. de

Publication type:

Article

What We Fail to See in Neuro-Genetic Diseases: A Bird's Eye View from the Developing World.

Published in:

Annals of Neurosciences, 2020, v. 27, n. 3/4, p. 91, doi. 10.1177/0972753120950069

By:

Samaranayake, Navami;
Dissanayaka, Pulasthi;
Gunarathna, Isuru;
Gonawala, Lakmal;
Wijekoon, Nalaka;
Rathnayake, Pyara;
Sirisena, Darshana;
Gunasekara, Harsha;
Dissanayake, Athula;
Senanayake, Sunethra;
Anand, Akshay;
Satyamoorthy, Kapaettu;
Dalal, Ashwin;
de Silva, K. Ranil D.

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

EXPERIENCES FROM 5 YEARS OF GENETIC COUNSELING IN EYE DISEASES.

Published in:

Acta Ophthalmologica (1755375X), 1968, v. 46, n. 3, p. 463, doi. 10.1111/j.1755-3768.1968.tb02830.x

By:

Goldschmidt, Ernst

Publication type:

Article

Genetics of eye diseases.

Published in:

Journal of Genetics, 2009, v. 88, n. 4, p. 393, doi. 10.1007/s12041-009-0059-1

By:

KANNABIRAN, CHITRA;
RAY, KUNAL

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

Editorial: Exploiting genetics and genomics to improve the understanding of eye diseases.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1308071

By:

Plotnikov, Denis;
Guggenheim, Jeremy A.;
Gao, Xiaoyi Raymond

Publication type:

Article

Automatic Detection of Genetics and Genomics of Eye Disease Using Deep Assimilation Learning Algorithm.

Published in:

Interdisciplinary Sciences: Computational Life Sciences, 2021, v. 13, n. 2, p. 286, doi. 10.1007/s12539-020-00404-5

By:

Sikkandar, Mohamed Yacin

Publication type:

Article

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