National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.
about
Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergenceAnophthalmia and microphthalmiaMutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationMutation of SALL2 causes recessive ocular coloboma in humans and miceHeterozygous mutations of OTX2 cause severe ocular malformationsFOXE3 plays a significant role in autosomal recessive microphthalmiaMutational screening of 10 genes in Chinese patients with microphthalmia and/or colobomaCommon MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopiaHsp90 selectively modulates phenotype in vertebrate developmentLoss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceMutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from QatarFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeBiochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye DiseaseIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesHeterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsA trans-acting protein effect causes severe eye malformation in the Mp mouseOcular abnormalities in mice lacking the immunoglobulin superfamily member CdoMalnutrition in pregnancy following bariatric surgery: three clinical cases of fetal neural defectsMutations 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 anomaliesaldh7a1 regulates eye and limb development in zebrafish.Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaGenes and signaling networks regulated during zebrafish optic vesicle morphogenesisNovel SOX2 partner-factor domain mutation in a four-generation familyExpression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice.Bilateral anophthalmia with septo-optic dysplasiaArray 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 cataractsVSX2 mutations in autosomal recessive microphthalmiaOcular coloboma: a reassessment in the age of molecular neuroscience.PAX6 and congenital eye malformations.Eye development genes and known syndromesThe familial contribution to non-syndromic ocular coloboma in south IndiaTwo 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
Q21145050-BEC1C659-1A1B-49CC-950F-D856EADE4A85Q21202957-2A60A38C-9D41-46E2-A6B4-FAA5B6A35D2CQ24295098-E869E1D0-682E-4EB6-ABF4-77FFAB0B8D1DQ24319044-354F2E5D-84AF-4EDC-B2A0-5F54B8C98A94Q24530768-77AB5394-5D30-4552-B424-D2DFCD1A046AQ24630469-B532AB3C-8D41-4FDD-8ED1-D01A1EEBA8F5Q24650708-3D1DF1E8-E7E1-4242-B1AF-9D6EC0EBC3D1Q24651845-23C64431-4986-4AEA-BB2C-D693B30A40EBQ27314993-EF6DCAFC-EEFF-4064-8F5A-4DD14C419409Q27339890-AF0D3989-7151-471B-9A89-BDEDAF5145F6Q28238442-0F5B4E46-F4AC-41A2-BC55-A09395C248E1Q28247493-FA717C96-D530-49BF-AAF2-50FCABDEE613Q28261108-8BCD835F-F91D-4ABD-8DF4-4337EFD5C259Q28306123-3412EB02-ADFB-48F2-925C-6C29560E0288Q28306581-A9685FFD-C933-4B44-B5BE-148F7959AAD8Q28508709-8DB62C96-28D1-4785-ADF0-CD152B10BDD9Q28591959-9C73864B-01BD-41E0-A3A0-2D3819AFE192Q30435977-62E0382E-D295-4C8F-9034-B56A4134BAF8Q31814856-FFA8E957-41F2-4769-B784-12D39F42B9E4Q33281056-8921D1A6-53CC-4503-A88D-0D6F6968274EQ33518062-0883785F-8C6F-40D2-8581-9192FE6D7A34Q33719356-3405E957-E213-497C-8A7A-135608807FFEQ33744524-6814B045-9D4B-445B-B0AF-76CDEBE0E67CQ33864210-92B5D143-3318-403B-BDDA-0CF4F75E1CDEQ34178019-3931C977-DAED-4C89-B2CC-C3200946330AQ34308989-FE51C670-7C79-4588-99FF-0249426633AAQ34327268-2ABE3CB8-5083-4A98-80F1-46A8C6500D57Q34408325-E9DE4E96-A25F-4ABE-9058-FFDC06401BF1Q34414674-7F633D5C-14A5-4F2D-B89E-5BA9A71A95A6Q34540729-7555A0E1-3B86-473D-9D82-76D49281A1C1Q35077859-570E8A44-2084-4A8B-8C66-C2E261803297Q35125578-C6BFBB7F-763D-4003-B9F6-6C59B44D1B03Q35255132-014A9FEE-21A0-4794-8E21-175BA201ADE3Q35444452-470ACFE2-BD00-4A83-9571-B880E032B042Q35560939-E8AAB223-EFD3-4DF9-9934-7F6DE8539E9CQ35573283-2E157A04-AA49-4882-BBF4-3CB22A3404DAQ35590715-1E14C895-48E1-4989-A664-B13D3B004652Q35603521-60B8292D-DCC9-4562-92E5-6620B8CE4895Q35762885-1C1A0986-897A-4E37-BC11-1A5A88741979Q35805964-59BA041D-96B2-45B3-90B6-A3D1F08833CB
P2860
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
National study of microphthalm ...... tigation of genetic aetiology.
@ast
National study of microphthalm ...... tigation of genetic aetiology.
@en
type
label
National study of microphthalm ...... tigation of genetic aetiology.
@ast
National study of microphthalm ...... tigation of genetic aetiology.
@en
prefLabel
National study of microphthalm ...... tigation of genetic aetiology.
@ast
National study of microphthalm ...... tigation of genetic aetiology.
@en
P2093
P2860
P356
P1476
National study of microphthalm ...... tigation of genetic aetiology.
@en
P2093
D FitzPatrick
D Morrison
H Campbell
J Chalmers
K Williamson
P2860
P356
10.1136/JMG.39.1.16
P407
P577
2002-01-01T00:00:00Z