Works matching Genetics of eye diseases

Results: 398

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

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

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

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

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

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

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

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

Published in:

2013

By:

Ganesh, Anuradha;
Al-Mujaini, Abdullah

Publication type:

Editorial

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

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

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 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

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

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

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

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 and Metabolic Eye Disease (Book).

Published in:

1974

By:

Alter, Milton

Publication type:

Book Review

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

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

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

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

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

Persistent fetal intraocular vasculature in the European ferret (Mustela putorius): clinical and histological aspects.

Published in:

Veterinary Ophthalmology, 2001, v. 4, n. 1, p. 29, doi. 10.1046/j.1463-5224.2001.00115.x

By:

Lipsitz, Lee;
Ramsey, David T.;
Render, James A.;
Bursian, Steven J.;
Auelrich, Richard J.

Publication type:

Article

Novel compound heterozygous mutations in the cytochrome P4501B1gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 3, p. 191, doi. 10.1076/1381-6810(200009)21:3;1-Z;FT191

By:

Ohtake, Yuichiro;
Kubota, Ryo;
Tanino, Tomihiko;
Miyata, Hiroshi;
Mashima, Yukihiko

Publication type:

Article

Choroideremia, sensorineural deafness, and primary ovarian failurein a woman with a balanced X-4 translocation.

Published in:

2000

By:

Lorda-Sanchez, Isabel;
Ibañez, Angeles;
Sanz, Raúl;
Trujillo, María J.;
Anabitarte, Marian;
Querejeta, María E.;
Rodriguez de Alba, Marta;
Gimenez, Ascension;
Infantes, Fernando;
Ramos, Carmen;
Garcia-Sandoval, Blanca;
Ayuso, Carmen

Publication type:

Case Study

Clinical characteristics of 14 Japanese patients with X-linked juvenileretinoschisis associated with XLRS1 mutation.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 3, p. 171, doi. 10.1076/1381-6810(200009)2131-ZFT171

By:

Shinoda, Kei;
Ishida, Susumu;
Oguchi, Yoshihisa;
Mashima, Yukihiko

Publication type:

Article

Mutational analysis and clinical correlation in Leber congenitalamaurosis.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 3, p. 135, doi. 10.1076/1381-6810(200009)21:3;1-Z;FT135

By:

Dharmaraj, Sharola;
Silva, Eduardo;
Pina, Ana Luisa;
Li, Ying Ying;
Yang, Jun-Ming;
Carter, Colin R.;
Loyer, Magali;
El-Hilali, Hala;
Traboulsi, Elias;
Sundin, Olof;
Zhu, Danping;
Koenekoop, Robert K.;
Maumenee, Irene H.

Publication type:

Article

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease causedby mutations in the CLN3 gene.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 2, p. 69, doi. 10.1076/1381-6810(200006)21:2;1-8;FT069

By:

Eksandh, Louise;
Ponjavic, Vesna;
Munroe, Patricia B.;
Eiberg, Hans;
Uvebrant, Paul;
Ehinger, Berndt;
Mole, Sara E.;
Andréasson, Sten

Publication type:

Article

Expression of the TIGR gene in the iris, ciliary body, and trabecularmeshwork of the human eye.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 3, p. 155, doi. 10.1076/1381-6810(200009)21:3;1-Z;FT155

By:

Huang, Wenhu;
Jaroszewski, Jan;
Ortego, Javier;
Escribano, Julio;
Coca-Prados, Miguel

Publication type:

Article

Homozygous and heterozygous Gly-188-Arg mutation of the rhodopsingene in a family with autosomal dominant retinitis pigmentosa.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 2, p. 79, doi. 10.1076/1381-6810(200006)21:2;1-8;FT079

By:

Reig, Carlos;
Trujillo, José M.;
Martinez-Gimeno, Maria;
Garcia-Sandoval, Blanca;
Calvo, Teresa M.;
Ayuso, Carmen;
Carballo, Miguel

Publication type:

Article

Mutations in the third exon of the MYOC gene in Spanish patientswith primary open angle glaucoma.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 2, p. 109

By:

Vázquez, Cabana M.;
Herrero, Olmedo M.V.;
Bastús, Baiget M.;
Pérez, Valverde D.

Publication type:

Article

Prevalence of 2314delG mutation in Spanish patients with Ushersyndrome type II (USH2).

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 2, p. 123, doi. 10.1076/1381-6810(200006)21:2;1-8;FT123

By:

Beneyto, Magdalena;
Cuevas, José M.;
Millán, José M.;
Espinós, Carmen;
Mateu, Emilia;
González-Cabo, Pilar;
Baiget, Montserrat;
Doménech, Montserrat;
Bernal, Sara;
Ayuso, Carmen;
García-Sandoval, Blanca;
Trujillo, Ma José;
Borrego, Salud;
Antiñolo, Guillermo;
Carballo, Miguel;
Nájera, Carmen

Publication type:

Article

Summary of heritable ocular disorders and selected systemic conditionswith eye findings.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 1, p. 29, doi. 10.1076/1381-6810(200003)21:1;1-I;FT029

By:

MacDonald, I.M.;
Mah, D.Y.

Publication type:

Article

Current digests.

Published in:

2000

By:

Drack, Arlene V.

Publication type:

Abstract

Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease).

Published in:

2000

By:

Krishnan, Chadrasekharan;
Roy, Anindiya;
Traboulsi, Elias I.

Publication type:

Case Study

Is pseudoexfoliation syndrome inherited? A review of genetic andnongenetic factors and a new observation.

Published in:

Ophthalmic Genetics, 1998, v. 19, n. 4, p. 175, doi. 10.1076/opge.19.4.175.2310

By:

Damji, Karim F.;
Bains, Harkaran S.;
Stefansson, Einar;
Loftsdottir, Margaret;
Sverrisson, Thordur;
Thorgeirsson, Eirikur;
Jonasson, Fridbert;
Gottfredsdottir, Maria;
Allingham, Rand R.

Publication type:

Article

Current digests.

Published in:

1998

By:

Drack, Arlene V.

Publication type:

Abstract

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

Twin study of age-related macular degeneration.

Published in:

Ophthalmic Epidemiology, 2003, v. 10, n. 5, p. 315, doi. 10.1076/opep.10.5.315.17317

By:

Grizzard, W. Sanderson;
Arnett, Donna;
Haag, Scott L.

Publication type:

Article

Identification of a locus (DSP2) for disseminated superficial porokeratosis at chromosome 12q21.2-24.21.

Published in:

Clinical & Experimental Dermatology, 2012, v. 37, n. 6, p. 672, doi. 10.1111/j.1365-2230.2012.04380.x

By:

Cao, H. M.;
Wang, Z. Y.;
Zhang, G. W.;
Liu, C. F.;
Pan, C. M.;
Zhao, S. X.;
Song, Z. Y.;
Song, H. D.;
Zhang, L.

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

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