Aetiology of congenital and paediatric cataract in an Australian population.
about
Global prevalence of childhood cataract: a systematic reviewMolecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).Prediction error and accuracy of intraocular lens power calculation in pediatric patient comparing SRK II and Pediatric IOL CalculatorIntraocular lens implantation in unilateral congenital cataract with minimal levels of persistent fetal vasculature in the first 18 months of life.Assessment of risk factors for infantile cataracts using a case-control study: National Birth Defects Prevention Study, 2000-2004Clinical and experimental advances in congenital and paediatric cataracts.Radiation hybrid mapping of cataract genes in the dog.A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese familiesA novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.A novel mutation in the MIP gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family.A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family.A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese familyPediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family.Infant Aphakia Treatment Study: effects of persistent fetal vasculature on outcome at 1 year of ageAccess to essential paediatric eye surgery in the developing world: a case of congenital cataracts left untreated.Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 geneThe telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genesDown's syndrome and early cataract.Epidemiology and molecular genetics of congenital cataractsPrevalence and epidemiological characteristics of congenital cataract: a systematic review and meta-analysis.Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathA novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian originSporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.Identification of a genetic locus for autosomal dominant infantile cataract on chromosome 20p12.1-p11.23 in a Chinese familyAn alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataractA novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.Improving diagnosis for congenital cataract by introducing NGS genetic testing.A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family.A link between maternal malnutrition and depletion of glutathione in the developing lens: a possible explanation for idiopathic childhood cataract?Deprivation amblyopia and congenital hereditary cataract.Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approachCurrent Status of IOL implantation in pediatric eyes: an update.A case of bilateral developmental cataract with non-syndromic cyanotic congenital heart disease.
P2860
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P2860
Aetiology of congenital and paediatric cataract in an Australian population.
description
2002 nî lūn-bûn
@nan
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
2002年论文
@zh
2002年论文
@zh-cn
name
Aetiology of congenital and paediatric cataract in an Australian population.
@en
Aetiology of congenital and paediatric cataract in an Australian population.
@nl
type
label
Aetiology of congenital and paediatric cataract in an Australian population.
@en
Aetiology of congenital and paediatric cataract in an Australian population.
@nl
prefLabel
Aetiology of congenital and paediatric cataract in an Australian population.
@en
Aetiology of congenital and paediatric cataract in an Australian population.
@nl
P2093
P2860
P356
P1476
Aetiology of congenital and paediatric cataract in an Australian population.
@en
P2093
I M Russell-Eggitt
P2860
P304
P356
10.1136/BJO.86.7.782
P407
P577
2002-07-01T00:00:00Z