Works matching DE "GENETICS of eye diseases"

Results: 119

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

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

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 3, p. 368, doi. 10.1038/sj.ejhg.5200300

By:

Huopaniemi, Laura;
Rantala, Anne;
Forsius, Henrik;
Somer, Mirja;
de la Chapelle, Albert;
Alitalo, Tiina

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

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 207, doi. 10.1038/79936

By:

Delettre, Cécile;
Lenaers, Guy;
Griffoin, Jean-Michel;
Gigarel, Nadine;
Lorenzo, Corinne;
Belenguer, Pascale;
Pelloquin, Laetitia;
Grosgeorge, Josiane;
Turc-Carel, Claude;
Perret, Eric;
Astarie-Dequeker, Catherine;
Lasquellec, Laetitia;
Arnaud, Bernard;
Ducommun, Bernard;
Kaplan, Josseline;
Hamel, Christian P.

Publication type:

Article

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Published in:

Nature Genetics, 2000, v. 26, n. 2, p. 211, doi. 10.1038/79944

By:

Alexander, Christiane;
Votruba, Marcela;
Pesch, Ulrike E.A.;
Thiselton, Dawn L.;
Mayer, Simone;
Moore, Anthony;
Rodriguez, Miguel;
Kellner, Ulrich;
Leo-Kottler, Beate;
Auburger, Georg;
Bhattacharya, Shomi S.;
Wissinger, Bernd

Publication type:

Article

Cataracts in children.

Published in:

1985

By:

Taylor, David

Publication type:

Editorial

The Retinome -- Defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium.

Published in:

BMC Genomics, 2004, v. 5, p. 50, doi. 10.1186/1471-2164-5-50

By:

Schulz, Heidi L.;
Goetz, Thomas;
Kaschkoetoe, Juergen;
Weber, Bernhard H. F.

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

Pathways to photoreceptor cell death in inherited retinal degenerations.

Published in:

BioEssays, 2001, v. 23, n. 7, p. 605, doi. 10.1002/bies.1086

By:

Pierce, Eric A.

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

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

Modelling the Genetic Risk in Age-Related Macular Degeneration.

Published in:

PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0037979

By:

Grassmann, Felix;
Fritsche, Lars G.;
Keilhauer, Claudia N.;
Heid, Iris M.;
Weber, Bernhard H. F.

Publication type:

Article

Multi-Timescale Perceptual History Resolves Visual Ambiguity.

Published in:

PLoS ONE, 2008, v. 3, n. 1, p. 1, doi. 10.1371/journal.pone.0001497

By:

Brascamp, Jan W.;
Knapen, Tomas H. J.;
Kanai, Ryota;
Noest, André J.;
van Ee, Raymond;
van den Berg, Albert V.

Publication type:

Article

Clues from oculomotor phenotype to genotype in CACNA1A channelopathies.

Published in:

2016

By:

Bostan, Alionka

Publication type:

journal 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

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

Published in:

Eye (0950-222X), 2004, v. 18, n. 7, p. 723, doi. 10.1038/sj.eye.6701313

By:

El-Ashry, M.F.;
El-Aziz, M.M. Abd.;
Ficker, L.A.;
Hardcastle, A.J.;
Bhattacharya, S.S.;
Ebenezer, N.D.

Publication type:

Article

Prospects for gene therapy in corneal disease.

Published in:

Eye (0950-222X), 2003, v. 17, n. 8, p. 906, doi. 10.1038/sj.eye.6700565

By:

Jun, A.S.;
Larkin, D.F.P.

Publication type:

Article

Differentiation of rat adipose-derived mesenchymal stem cells into corneal-like epithelial cells driven by PAX6.

Published in:

Experimental & Therapeutic Medicine, 2018, v. 15, n. 2, p. 1424, doi. 10.3892/etm.2017.5576

By:

Sun, Jing;
Liu, Wei-Hua;
Deng, Feng-Mei;
Luo, Yong-Hui;
Wen, Ke;
Zhang, Hong;
Liu, Hai-Rong;
Wu, Jiang;
Su, Bing-Yin;
Liu, Yi-Lun

Publication type:

Article

Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 2, p. 122, doi. 10.1038/jhg.2011.138

By:

Ohkubo, Sayuri Imai;
Matsuo, Toshihiko;
Hasebe, Kayoko;
Shira, Yoshie Hirai;
Itoshima, Emi;
Ohtsuki, Hiroshi

Publication type:

Article

De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 3, p. 161, doi. 10.1007/s10038-005-0340-y

By:

Zhadanov, Sergey I.;
Atamanov, Vasiliy V.;
Zhadanov, Nikolay I.;
Schurr, Theodore G.

Publication type:

Article

Allelic variants in the MYOC/TIGR gene in patients with primary open-angle. exfoliative glaucoma and unaffected controls.

Published in:

Ophthalmic Genetics, 2003, v. 24, n. 2, p. 103, doi. 10.1076/opge.24.2.103.13997

By:

Jansson, Mattias;
Marknell, Towa;
Tomic, Lidija;
Larsson, Lill-Inger;
Wadelius, Claes

Publication type:

Article

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

Genetic and epigenetic insights into uveal melanoma.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 952, doi. 10.1111/cge.13136

By:

Stei, M. M.;
Holz, F. G.;
Loeffler, K. U.;
Herwig‐Carl, M. C.;
Sharma, A.;
Fröhlich, H.

Publication type:

Article

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Published in:

Clinical Genetics, 2015, v. 88, n. 5, p. 468, doi. 10.1111/cge.12543

By:

Slavotinek, A.M.;
Garcia, S.T.;
Chandratillake, G.;
Bardakjian, T.;
Ullah, E.;
Wu, D.;
Umeda, K.;
Lao, R.;
Tang, P.L.‐F.;
Wan, E.;
Madireddy, L.;
Lyalina, S.;
Mendelsohn, B.A.;
Dugan, S.;
Tirch, J.;
Tischler, R.;
Harris, J.;
Clark, M.J.;
Chervitz, S.;
Patwardhan, A.

Publication type:

Article

SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?

Published in:

Clinical Genetics, 2013, v. 83, n. 5, p. 482, doi. 10.1111/j.1399-0004.2012.01922.x

By:

Ragge, NK;
Quaghebeur, G;
Stewart, H

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

Molecular complexity of primary open angle glaucoma: current concepts.

Published in:

Journal of Genetics, 2009, v. 88, n. 4, p. 451, doi. 10.1007/s12041-009-0065-3

By:

RAY, KUNAL;
MOOKHERJEE, SUDDHASIL

Publication type:

Article