Mouse Small eye results from mutations in a paired-like homeobox-containing gene

Robert E. Hill, Jack Favor, Brigid L.M. Hogan, +7

Nature

Knockout MouseOcular DiseaseDevelopmental BiologyOphthalmologyExperimental Ophthalmology +6

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

Carl C.T. Ton, Harri Hirvonen, Hiroshi Miwa, +12

Cell

BiologyComparative GenomicsGeneticsNatural SciencesGenome Structure +12

The human PAX6 gene is mutated in two patients with aniridia

Tim Jordan, Isabel M. Hanson, Dmitri Zaletayev, +5

Nature Genetics

Genetic DisorderGeneticsPathogenesisPathologyMolecular Genetics +3

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

Isabel M. Hanson, Judy Fletcher, Tim Jordan, +5

Nature Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics +6

Mutations of the Forkhead/Winged-Helix Gene, FKHL7, in Patients with Axenfeld-Rieger Anomaly

Alan J. Mears, Tim Jordan, Farideh Mirzayans, +16

The American Journal of Human Genetics

Somatic VariantMendelian DisorderGenetic DisorderGeneticsAxenfeld-rieger Anomaly +6

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan, +9

The American Journal of Human Genetics

Developmental BiologyGenetic DisorderGeneticsGenomic MechanismGenetic Mechanism +6

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

Ordan J. Lehmann, Neil D. Ebenezer, Rosemary Ekong, +11

PubMed

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene<i>FOXC1</i>Causes Iris Hypoplasia and Glaucoma

Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan, +9

The American Journal of Human Genetics

Transcriptional RegulationDevelopmental BiologyGenetic DisorderGeneticsGenomic Mechanism +7

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.

Abdul Hameed, Shagufta Khaliq, M. Ismail, +6

PubMed

A novel keratocan mutation causing autosomal recessive cornea plana.

Ordan J. Lehmann, Mohamed F. El-Ashry, Neil D. Ebenezer, +8

PubMed