Associated Papers
Whole-exome sequencing identification of a recurrent CRYBB2 variant in a four-generation Chinese family with congenital nuclear cataracts.
Chen D et al.
Experimental and Therapeutic Medicine, 2021
Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients.
Chen D et al.
Journal of Ophthalmology, 2021
Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract.
Chen P et al.
International Journal of Ophthalmology, 2018
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.
Zhou Y et al.
Journal of Ophthalmology, 2016
A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.
Chen W et al.
Plos One, 2013
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M et al.
Molecular Vision, 2013
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.
Weisschuh N et al.
Molecular Vision, 2012
Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.
Yao K et al.
Molecular Vision, 2011
Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.
Santhiya ST et al.
Molecular Vision, 2010
A novel mutation in CRYBB2 responsible for inherited coronary cataract.
Lou D et al.
Eye (london, England), 2009
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.
Li FF et al.
Molecular Vision, 2008
Novel allele of crybb2 in the mouse and its expression in the brain.
Ganguly K et al.
Investigative Ophthalmology & Visual Science, 2008
Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
Pauli S et al.
Molecular Vision, 2007
[GENETIC COUNSELING IN HEREDITARY CONGENITAL CATARACT].
PECCININI D
Arquivos Brasileiros De Oftalmologia, 1964
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
The genetic and molecular basis of congenital cataract.
Santana A et al.
Arquivos Brasileiros De Oftalmologia, 0
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.
Faletra F et al.
Ophthalmic Genetics, 0