Ocular malformations and developmental genes (Q33758287)

29 July 2017

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title

Ocular malformations and developmental genes (English)

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29 July 2017

E I Traboulsi

1

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29 July 2017

publication date

1 December 1998

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Journal of American Association for Pediatric Ophthalmology and Strabismus

29 July 2017

published in

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29 July 2017

volume

2

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29 July 2017

issue

6

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29 July 2017

page(s)

317-323

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Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

29 July 2017

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Homeobox genes and disease

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Current views on eye development

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Homeobox genes in embryogenesis and pathogenesis

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A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

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Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

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A conserved DNA sequence in homoeotic genes of the Drosophila Antennapedia and bithorax complexes

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Nucleotides flanking a conserved TAAT core dictate the DNA binding specificity of three murine homeodomain proteins

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

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Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

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7 January 2021

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Genomic structure of the human PAX2 gene

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7 January 2021

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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7 January 2021

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

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7 January 2021

Two different PAX3 gene mutations causing Waardenburg syndrome type I

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7 January 2021

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7 January 2021

PAX genes: what's new in developmental biology and cancer?

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7 January 2021

The master control gene for morphogenesis and evolution of the eye.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

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7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

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7 January 2021

Ocular surface abnormalities in aniridia

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7 January 2021

PAX6 missense mutation in isolated foveal hypoplasia

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7 January 2021

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

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7 January 2021

Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia

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7 January 2021

Axenfeld-Rieger syndrome. A spectrum of developmental disorders

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7 January 2021

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

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7 January 2021

Genetic heterogeneity in Rieger eye malformation

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7 January 2021

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

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7 January 2021

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)

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7 January 2021

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

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7 January 2021

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

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7 January 2021

Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct

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7 January 2021

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

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7 January 2021

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

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7 January 2021

Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19.

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7 January 2021

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

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7 January 2021

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

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7 January 2021

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration

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7 January 2021

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

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7 January 2021

Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

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7 January 2021

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

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7 January 2021

10.1016/S1091-8531(98)90024-6

Identifiers

DOI

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29 July 2017

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