Volume 138, Issue 8-9

Search all Human Genetics articles

September 2019

Special issue on Molecular Genetics of Developmental Eye Disorders

Issue Editors:

Nicola Ragge,
Patrick Calvas,
Nicolas Chassaing

19 articles in this issue

Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”
Nicola Ragge
Patrick Calvas
Nicolas Chassaing
Editorial 05 August 2019 Pages: 793 - 793
Part of 2 collections:

Eye Genetics

Eye Genetics
Through the looking glass: eye anomalies in the age of molecular science
Patrick Calvas
Elias I. Traboulsi
Nicola Ragge
Perspective 07 August 2019 Pages: 795 - 798
Part of 2 collections:

Eye Genetics

Eye Genetics
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
J. Plaisancié
F. Ceroni
Nicola K. Ragge
Review 14 February 2019 Pages: 799 - 830
Part of 2 collections:

Eye Genetics

Eye Genetics
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmia
Anne Slavotinek
Review 30 October 2018 Pages: 831 - 846
Part of 2 collections:

Eye Genetics

Eye Genetics
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes
Linda M. Reis
Elena V. Semina
Original Investigation 05 September 2018 Pages: 847 - 863
Part of 2 collections:

Eye Genetics

Eye Genetics
An update on the genetics of ocular coloboma
Aisha S. ALSomiry
Cheryl Y. Gregory-Evans
Kevin Gregory-Evans
Original Investigation 09 May 2019 Pages: 865 - 880
Part of 2 collections:

Eye Genetics

Eye Genetics
The genetic architecture of aniridia and Gillespie syndrome
Hildegard Nikki Hall
Kathleen A. Williamson
David R. FitzPatrick
Review Open access 22 September 2018 Pages: 881 - 898
Part of 2 collections:

Eye Genetics

Eye Genetics
Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis
A. S. Ma
J. R. Grigg
R. V. Jamieson
Review 21 September 2018 Pages: 899 - 915
Part of 2 collections:

Eye Genetics

Eye Genetics
The hedgehog pathway and ocular developmental anomalies
Florencia Cavodeassi
Sophie Creuzet
Heather C. Etchevers
Review Open access 02 August 2018 Pages: 917 - 936
Part of 2 collections:

Eye Genetics

Eye Genetics
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects
B. Nedelec
J.-M. Rozet
L. Fares Taie
Review 29 July 2019 Pages: 937 - 955
Part of 2 collections:

Eye Genetics

Eye Genetics
Non-coding RNAs in retinal development and function
Marianthi Karali
Sandro Banfi
Review 05 September 2018 Pages: 957 - 971
Part of 2 collections:

Eye Genetics

Eye Genetics
Human eye conditions: insights from the fly eye
Pedro Gaspar
Isabel Almudi
Alistair P. McGregor
Review 01 November 2018 Pages: 973 - 991
Part of 2 collections:

Eye Genetics

Eye Genetics
Looking to the future of zebrafish as a model to understand the genetic basis of eye disease
Florencia Cavodeassi
Stephen W. Wilson
Review Open access 17 August 2019 Pages: 993 - 1000
Part of 2 collections:

Eye Genetics

Eye Genetics
Genetics of congenital eye malformations: insights from chick experimental embryology
Paola Bovolenta
Juan-Ramón Martinez-Morales
Review 06 July 2018 Pages: 1001 - 1006
Part of 2 collections:

Eye Genetics

Eye Genetics
Mouse models for microphthalmia, anophthalmia and cataracts
Jochen Graw
Original Investigation Open access 27 March 2019 Pages: 1007 - 1018
Part of 2 collections:

Eye Genetics

Eye Genetics
Prospects and modalities for the treatment of genetic ocular anomalies
Cheryl Y. Gregory-Evans
Xia Wang
Kevin Gregory-Evans
Original Investigation 02 January 2019 Pages: 1019 - 1026
Part of 2 collections:

Eye Genetics

Eye Genetics
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
Fabiola Ceroni
Domingo Aguilera-Garcia
Nicola K Ragge
Original Investigation 20 February 2018 Pages: 1027 - 1042
Part of 2 collections:

Eye Genetics

Eye Genetics
Congenital glaucoma and CYP1B1: an old story revisited
Hessa S. Alsaif
Arif O. Khan
Fowzan S. Alkuraya
Original Investigation 19 March 2018 Pages: 1043 - 1049
Part of 2 collections:

Eye Genetics

Eye Genetics
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Nicola Ragge
Bertrand Isidor
Nicolas Chassaing
Original Investigation 04 July 2018 Pages: 1051 - 1069
Part of 2 collections:

Eye Genetics

Eye Genetics

Volume 138, Issue 8-9

Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”

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

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

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

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

An update on the genetics of ocular coloboma

The genetic architecture of aniridia and Gillespie syndrome

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

The hedgehog pathway and ocular developmental anomalies

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

Non-coding RNAs in retinal development and function

Human eye conditions: insights from the fly eye

Looking to the future of zebrafish as a model to understand the genetic basis of eye disease

Genetics of congenital eye malformations: insights from chick experimental embryology

Mouse models for microphthalmia, anophthalmia and cataracts

Prospects and modalities for the treatment of genetic ocular anomalies

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

Congenital glaucoma and CYP1B1: an old story revisited

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

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