Works matching DE "GENETICS of eye abnormalities"

Results: 13

Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy.

Published in:

Eye (0950-222X), 2009, v. 23, n. 4, p. 966, doi. 10.1038/eye.2008.221

By:

Houlden, H.;
Reilly, M. M.;
Smith, S.

Publication type:

Article

Ankyloblepharon Filiforme Adnatum: Report of Two Cases.

Published in:

2014

By:

Chandana Chakraborti;
Krittika Pal Chaudhury;
Jayanta Das;
Arnab Biswas

Publication type:

Case Study

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

Published in:

Human Genetics, 2015, v. 134, n. 6, p. 577, doi. 10.1007/s00439-015-1541-x

By:

Basel-Vanagaite, Lina;
Smirin-Yosef, Pola;
Essakow, Jenna;
Tzur, Shay;
Lagovsky, Irina;
Maya, Idit;
Pasmanik-Chor, Metsada;
Yeheskel, Adva;
Konen, Osnat;
Orenstein, Naama;
Weisz Hubshman, Monika;
Drasinover, Valerie;
Magal, Nurit;
Peretz Amit, Gaby;
Zalzstein, Yael;
Zeharia, Avraham;
Shohat, Mordechai;
Straussberg, Rachel;
Monté, Didier;
Salmon-Divon, Mali

Publication type:

Article

Cone Dystrophy in Patient with Homozygous RP1L1 Mutation.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/545243

By:

Kikuchi, Sachiko;
Kameya, Shuhei;
Gocho, Kiyoko;
El Shamieh, Said;
Akeo, Keiichiro;
Sugawara, Yuko;
Yamaki, Kunihiko;
Zeitz, Christina;
Audo, Isabelle;
Takahashi, Hiroshi

Publication type:

Article

Case report: Ocular malformation with a 'double globe' appearance.

Published in:

2009

By:

Kim, Usha R.;
Arora, Vipul;
Shah, Akash D.;
Srinivasan, K. G.

Publication type:

Case Study

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.

Published in:

Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 130, doi. 10.1159/000444228

By:

Colovati, Mileny E.S.;
Bragagnolo, Silvia;
Guilherme, Roberta S.;
Dantas, anelisa G.;
Soares, Maria F.;
Kim, Chong a.;
Perez, ana B.a.;
Melaragno, Maria I.

Publication type:

Article

The Importance of Mitochondria in Age-Related and Inherited Eye Disorders.

Published in:

Ophthalmic Research, 2010, v. 44, n. 3, p. 179, doi. 10.1159/000316480

By:

Stuart G. Jarrett;
Alfred S. Lewin;
Michael E. Boulton

Publication type:

Article

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 986, doi. 10.1038/ejhg.2012.43

By:

Knijnenburg, Jeroen;
van Bever, Yolande;
Hulsman, Lorette O M;
van Kempen, Chantal A P;
Bolman, Galhana M;
van Loon, Rosa Laura E;
Beverloo, H Berna;
van Zutven, Laura J C M

Publication type:

Article

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233

By:

Delahaye, Andrée;
Bitoun, Pierre;
Drunat, Séverine;
Gérard-Blanluet, Marion;
Chassaing, Nicolas;
Toutain, Annick;
Verloes, Alain;
Gatelais, Frédérique;
Legendre, Marie;
Faivre, Laurence;
Passemard, Sandrine;
Aboura, Azzedine;
Kaltenbach, Sophie;
Quentin, Samuel;
Dupont, Céline;
Tabet, Anne-Claude;
Amselem, Serge;
Elion, Jacques;
Gressens, Pierre;
Pipiras, Eva

Publication type:

Article

Assessment of PAX6 alleles in 66 families with aniridia.

Published in:

Clinical Genetics, 2016, v. 89, n. 6, p. 669, doi. 10.1111/cge.12708

By:

Bobilev, A.M.;
McDougal, M.E.;
Taylor, W.L.;
Geisert, E.E.;
Netland, P.A.;
Lauderdale, J.D.

Publication type:

Article

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.

Published in:

Clinical Genetics, 2013, v. 83, n. 2, p. 162, doi. 10.1111/j.1399-0004.2012.01851.x

By:

Ng, WY;
Pasutto, F;
Bardakjian, TM;
Wilson, MJ;
Watson, G;
Schneider, A;
Mackey, DA;
Grigg, JR;
Zenker, M;
Jamieson, RV

Publication type:

Article

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development.

Published in:

PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010565

By:

Chao, Ryan;
Nevin, Linda;
Agarwal, Pooja;
Riemer, Jan;
Xiaoyang Bai;
Delaney, Allen;
Akana, Matthew;
JimenezLopez, Nelson;
Bardakjian, Tanya;
Schneider, Adele;
Chassaing, Nicolas;
Schorderet, Daniel F.;
FitzPatrick, David;
Pui-yan Kwok;
Ellgaard, Lars;
Gould, Douglas B.;
Yan Zhang;
Malicki, Jarema;
Baier, Herwig;
Slavotinek, Anne

Publication type:

Article

Prenatal diagnosis of Fraser syndrome: a matter of life or death?

Published in:

Italian Journal of Pediatrics, 2015, v. 14, p. 1, doi. 10.1186/s13052-015-0195-6

By:

De Bernardo, Giuseppe;
Giordano, Maurizio;
Di Toro, Antonino;
Sordino, Desiree;
De Brasi, Daniele

Publication type:

Article