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Abbreviation : ADCC
Long Form : autosomal dominant congenital cataract
No. Year Title Co-occurring Abbreviation
2019 GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells. Cx50, HLEpiCs, NGS, UPR
2019 Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50. Cx46, Cx50, EGFP
2019 Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families. CRYBA4, EPHA2, MYH9, PAX6, RPGRRIP1
2019 PITX3 mutations associated with autosomal dominant congenital cataract in the Chinese population. CC, CPSC, WES
2018 Mutation Analysis of Families with Autosomal Dominant Congenital Cataract: A Recurrent Mutation in the CRYBA1/A3 Gene Causing Congenital Nuclear Cataract. SNPs
2017 A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family. ---
2017 A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus. ---
2017 Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing. HLECs, TES
2017 Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts. ---
10  2017 Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells. CC, HLEpiCs, NGS, UPR
11  2016 A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family. ---
12  2016 Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts. ---
13  2016 Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract. ---
14  2015 A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract. RFLP
15  2014 A novel MIP gene mutation associated with autosomal dominant congenital cataracts in a Chinese family. MIP
16  2014 Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. ASD
17  2014 Rapid and cost-effective molecular diagnosis using exome sequencing of one proband with autosomal dominant congenital cataract. GJA8
18  2013 A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. ---
19  2013 A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family. GJA3
20  2012 A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type. LIM2, MIP
21  2012 Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. GJA3, GOR, HRM, LOD
22  2012 Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. CRYBA2, CRYG
23  2010 Identification of a MIP mutation that activates a cryptic acceptor splice site in the 3' untranslated region. 3'UTR, AQP0
24  2009 Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family. MIP, RFLP
25  2009 Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2. CRYBA, GJA8
26  2008 [A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract]. PCR
27  2007 A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. SNP
28  2007 The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. PCR
29  2006 A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. AD, Cx46
30  2006 An autosomal dominant progressive congenital zonular nuclear cataract linked to chromosome 20p12.2-p11.23. ADPCZNC, BFSP1
31  2006 Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. SSCP
32  2005 A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family. CRYGD
33  2005 Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family. ---
34  2005 [A heterozygous transversion of connexin 50 in a family with congenital nuclear cataract in the northeast of China]. Cx50, GJA8
35  2004 Special fasciculiform cataract caused by a mutation in the gammaD-crystallin gene. CRYGD
36  2004 [Gene mapping of a pedigree with autosomal dominant congenital cataract]. STRP
37  2004 [Report of gene mutation hot spots analysis in one congenital cataract pedigree]. PCR
38  2004 [Study on ultrastructure changes and the genetic locus for a special phenotype cataract]. CRYG
39  2003 A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. ---
40  2003 [Autosomal dominant congenital nuclear cataract caused by a deletion mutation in the beta A1-crystallin gene]. CRYBA1
41  2001 A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22. ---
42  2000 Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). CZP3
43  2000 Linkage analysis in an autosomal dominant 'zonular nuclear pulverulent' congenital cataract, mapped to chromosome 13q11-13. ---
44  1998 Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. ---
45  1997 Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. ---
46  1996 A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. ---
47  1989 Autosomal dominant congenital cataract. Morphology and genetic mapping. Hp