Disease: Cataract congenital dominant non nuclear
- A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations
- A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations
- A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
- A family with autosomal dominant primary congenital cataract associated with a CRYGC mutation: evidence of clinical heterogeneity
- A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type
- A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family
- A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family
- A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2
- A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family
- A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree
- A novel <em>CRYGC</em> E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred
- A novel <em>WFS1</em> variant associated with isolated congenital cataracts
- A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family
- A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract
- A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract
- A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts
- A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred
- A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family
- A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing
- A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family
- A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family
- A novel GJA8 mutation (p.V44A) causing autosomal dominant congenital cataract
- A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family
- A novel missense mutation in <em>LIM2</em> causing isolated autosomal dominant congenital cataract
- A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
- A novel mutation impairing the tertiary structure and stability of gammaC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens
- A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens
- A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family
- A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family
- A novel mutation in gammaD-crystallin associated with autosomal dominant congenital cataract in a Chinese family
- A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin
- A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family
- A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree
- A novel mutation in the connexin 50 gene (GJA8) associated with autosomal dominant congenital nuclear cataract in a Chinese family
- A novel mutation in the major intrinsic protein (MIP) associated with autosomal dominant congenital cataracts in a Chinese family
- A novel mutation in γD-crystallin associated with autosomal dominant congenital cataract in a Chinese family
- A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
- A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea
- A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract
- A novel T→G splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family
- A novel TG splice site mutation of CRYBA1/A3 associated with autosomal dominant nuclear cataracts in a Chinese family
- A novel WFS1 variant associated with isolated congenital cataracts
- A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family
- A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract
- Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract
- Autosomal dominant congenital golden crystal nuclear cataract caused by a missense mutation in gammaD crystallin gene (CRYGD) in a Chinese family
- Autosomal dominant congenital nuclear cataracts caused by a CRYAA gene mutation
- Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells
- Cataract-causing mutation S228P promotes betaB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain
- Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain
- Cataract-linked mutation R188H promotes betaB2-crystallin aggregation and fibrillization during acid denaturation
- Cataract-linked mutation R188H promotes βB2-crystallin aggregation and fibrillization during acid denaturation
- Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50
- Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders
- Congenital Cataract-Causing Mutation G129C in gammaC-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates
- Congenital Cataract-Causing Mutation G129C in γC-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates
- CRYAA gene mutation study in a family with autosomal dominant congenital cataract combined with microcornea
- Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene
- Gene mapping of a pedigree with autosomal dominant congenital cataract
- Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract
- Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families
- Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract
- Hyperferritinemia-cataract syndrome associated to the HFE gene mutation. Two new Spanish families and a new mutation (A37T: "Zaragoza")
- Identification and characterization of six beta-crystallin gene mutations associated with congenital cataract in Chinese families
- Identification and characterization of six β-crystallin gene mutations associated with congenital cataract in Chinese families
- Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts
- Identification of a novel GJA3 mutation in congenital nuclear cataract
- Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies
- Identification of nuclear localization signals within the human BCOR protein
- Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
- Mitochondrial dysfunction caused by novel ATAD3A mutations
- Molecular genetics of congenital nuclear cataract
- Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2
- Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families
- Mutation analysis of CRYBB1 gene and prenatal diagnosis for a Chinese kindred featuring autosomal dominant congenital nuclear cataract
- Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract
- Myotonic Dystrophies: Targeting Therapies for Multisystem Disease
- Nance-Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation
- Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
- Novel beta-crystallin gene mutations in Chinese families with nuclear cataracts
- Novel compound heterozygous variant of <em>GJA8</em> gene in two siblings with congenital cataract mimics an autosomal recessive trait
- Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait
- Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract
- Novel mutations in CRYGC are associated with congenital cataracts in Chinese families
- Ophthalmologic features of Vici syndrome
- Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome
- Prevalence of and risk factors for age-related and anterior polar cataracts in a Korean population
- Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract
- Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies
- Sequence specific (1)H, (13)C and (15)N resonance assignments of a cataract-related variant G57W of human gammaS-crystallin
- Sequence specific <sup>1</sup>H, <sup>13</sup>C and <sup>15</sup>N resonance assignments of a cataract-related variant G57W of human γS-crystallin
- Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing
- Structure of G57W mutant of human gammaS-crystallin and its involvement in cataract formation
- Structure of G57W mutant of human γS-crystallin and its involvement in cataract formation
- The genetic landscape of crystallins in congenital cataract
- The importance of the last strand at the C-terminus in βB2-crystallin stability and assembly
- Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations
- Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent
- Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract
- Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans