Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 8/9

Results: 19

Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 899, doi. 10.1007/s00439-018-1935-7

By:

Ma, A. S.;
Grigg, J. R.;
Jamieson, R. V.

Publication type:

Article

Human eye conditions: insights from the fly eye.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 973, doi. 10.1007/s00439-018-1948-2

By:

Gaspar, Pedro;
Almudi, Isabel;
Nunes, Maria D. S.;
McGregor, Alistair P.

Publication type:

Article

The hedgehog pathway and ocular developmental anomalies.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 917, doi. 10.1007/s00439-018-1918-8

By:

Cavodeassi, Florencia;
Creuzet, Sophie;
Etchevers, Heather C.

Publication type:

Article

Through the looking glass: eye anomalies in the age of molecular science.

Published in:

2019

By:

Calvas, Patrick;
Traboulsi, Elias I.;
Ragge, Nicola

Publication type:

Editorial

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 937, doi. 10.1007/s00439-019-02052-2

By:

Nedelec, B.;
Rozet, J.-M.;
Fares Taie, L.

Publication type:

Article

Editorial to the special issue on "Molecular Genetics of Developmental Eye Disorders".

Published in:

2019

By:

Ragge, Nicola;
Calvas, Patrick;
Chassaing, Nicolas

Publication type:

Editorial

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

An update on the genetics of ocular coloboma.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 865, doi. 10.1007/s00439-019-02019-3

By:

ALSomiry, Aisha S.;
Gregory-Evans, Cheryl Y.;
Gregory-Evans, Kevin

Publication type:

Article

Mouse models for microphthalmia, anophthalmia and cataracts.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 1007, doi. 10.1007/s00439-019-01995-w

By:

Graw, Jochen

Publication type:

Article

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 831, doi. 10.1007/s00439-018-1949-1

By:

Slavotinek, Anne

Publication type:

Article

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 799, doi. 10.1007/s00439-019-01977-y

By:

Plaisancié, J.;
Ceroni, F.;
Holt, R.;
Zazo Seco, C.;
Calvas, P.;
Chassaing, N.;
Ragge, Nicola K.

Publication type:

Article

Prospects and modalities for the treatment of genetic ocular anomalies.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 1019, doi. 10.1007/s00439-018-01968-5

By:

Gregory-Evans, Cheryl Y.;
Wang, Xia;
Gregory-Evans, Kevin

Publication type:

Article

The genetic architecture of aniridia and Gillespie syndrome.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 881, doi. 10.1007/s00439-018-1934-8

By:

Hall, Hildegard Nikki;
Williamson, Kathleen A.;
FitzPatrick, David R.

Publication type:

Article

Non-coding RNAs in retinal development and function.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 957, doi. 10.1007/s00439-018-1931-y

By:

Karali, Marianthi;
Banfi, Sandro

Publication type:

Article

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 847, doi. 10.1007/s00439-018-1932-x

By:

Reis, Linda M.;
Semina, Elena V.

Publication type:

Article

Genetics of congenital eye malformations: insights from chick experimental embryology.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 1001, doi. 10.1007/s00439-018-1900-5

By:

Bovolenta, Paola;
Martinez-Morales, Juan-Ramón

Publication type:

Article

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 1051, doi. 10.1007/s00439-018-1896-x

By:

Ragge, Nicola;
Isidor, Bertrand;
Bitoun, Pierre;
Odent, Sylvie;
Giurgea, Irina;
Cogné, Benjamin;
Deb, Wallid;
Vincent, Marie;
Le Gall, Jessica;
Morton, Jenny;
Lim, Derek;
Le Meur, Guylène;
Zazo Seco, Celia;
Zafeiropoulou, Dimitra;
Bax, Dorine;
Zwijnenburg, Petra;
Arteche, Anara;
Swafiri, Saoud Tahsin;
Cleaver, Ruth;
McEntagart, Meriel

Publication type:

Article

Congenital glaucoma and CYP1B1: an old story revisited.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 1043, doi. 10.1007/s00439-018-1878-z

By:

Alsaif, Hessa S.;
Khan, Arif O.;
Patel, Nisha;
Alkuraya, Hisham;
Hashem, Mais;
Abdulwahab, Firdous;
Ibrahim, Niema;
Aldahmesh, Mohammed A.;
Alkuraya, Fowzan S.

Publication type:

Article

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Published in:

Human Genetics, 2019, v. 138, n. 8/9, p. 1027, doi. 10.1007/s00439-018-1875-2

By:

Ceroni, Fabiola;
Aguilera-Garcia, Domingo;
Chassaing, Nicolas;
Bax, Dorine Arjanne;
Blanco-Kelly, Fiona;
Ramos, Patricia;
Tarilonte, Maria;
Villaverde, Cristina;
da Silva, Luciana Rodrigues Jacy;
Ballesta-Martínez, Maria Juliana;
Sanchez-Soler, Maria Jose;
Holt, Richard James;
Cooper-Charles, Lisa;
Bruty, Jonathan;
Wallis, Yvonne;
McMullan, Dominic;
Hoffman, Jonathan;
Bunyan, David;
Stewart, Alison;
Stewart, Helen

Publication type:

Article