National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. - Wikidata - awgldk - TriplyDB

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

http://www.wikidata.org/entity/Q35438112

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Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence Anophthalmia and microphthalmia Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation Mutation of SALL2 causes recessive ocular coloboma in humans and mice Heterozygous mutations of OTX2 cause severe ocular malformations FOXE3 plays a significant role in autosomal recessive microphthalmia Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia Hsp90 selectively modulates phenotype in vertebrate development Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects A trans-acting protein effect causes severe eye malformation in the Mp mouse Ocular abnormalities in mice lacking the immunoglobulin superfamily member Cdo Malnutrition in pregnancy following bariatric surgery: three clinical cases of fetal neural defects Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.Ocular complications at the limits of viability.Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.Loss of LMO4 in the retina leads to reduction of GABAergic amacrine cells and functional deficits.Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies aldh7a1 regulates eye and limb development in zebrafish.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia Genes and signaling networks regulated during zebrafish optic vesicle morphogenesis Novel SOX2 partner-factor domain mutation in a four-generation family Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.Bilateral anophthalmia with septo-optic dysplasia Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study.Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts VSX2 mutations in autosomal recessive microphthalmia Ocular coloboma: a reassessment in the age of molecular neuroscience.PAX6 and congenital eye malformations.Eye development genes and known syndromes The familial contribution to non-syndromic ocular coloboma in south India Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.Changing pattern of childhood blindness in Maharashtra, India.EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

P2860

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P2860

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

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National study of microphthalm ...... tigation of genetic aetiology.

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Journal of Medical Genetics

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National study of microphthalm ...... tigation of genetic aetiology.

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P2093

B Fleck

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D FitzPatrick

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P2860

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

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

Regulation of left-right asymmetry by thresholds of Pitx2c activity

Geographical variation in anophthalmia and microphthalmia in England, 1988-94

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

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

Linkage strategies for genetically complex traits. II. The power of affected relative pairs.

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations.

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1

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