Vanita V, Singh J, Singh D, Varon R, Robinson P, Sperling K. A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. Mol Vis. 2007;13:2035-40 pubmed
..To identify the genetic defect in an autosomal dominant ectopia lentis (EL) family having 27 affected members in four generations...
Vanita V, Sperling K, Sandhu H, Sandhu P, Singh J. Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. Genet Test Mol Biomarkers. 2009;13:43-9 pubmed publisher
..Our findings expand the mutation spectrum of EXT1 and EXT2 and highlight the genetic and phenotypic heterogeneity of HME. ..
Bhatia S, Goyal S, Singh I, Singh D, Vanita V. A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance. Doc Ophthalmol. 2018;: pubmed publisher
..Present findings further substantiate the role of PRPF31 in adRP with incomplete penetrance and expand the mutation spectrum of PRPF31. ..
Vanita V. Association of RAGE (p.Gly82Ser) and MnSOD (p.Val16Ala) polymorphisms with diabetic retinopathy in T2DM patients from north India. Diabetes Res Clin Pract. 2014;104:155-62 pubmed publisher
..However, we did not find a significant association of p.Val16Ala polymorphism in MnSOD with retinopathy. The findings indicate a statistically significant association of p.Gly82Ser polymorphism in RAGE with DR in T2DM patients. ..
Kaur N, Vanita V. Association of aldose reductase gene (AKR1B1) polymorphism with diabetic retinopathy. Diabetes Res Clin Pract. 2016;121:41-48 pubmed publisher
..To our knowledge, this is the first report of association of -106C>T polymorphism in AKR1B1 in DR patients from India. ..
Vanita V, Singh J, Hejtmancik J, Nuernberg P, Hennies H, Singh D, et al
. A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Mol Vis. 2006;12:518-22 pubmed
..The "fan-shaped cataract" observed in the present family has not been reported before. ..
Vanita V, Singh J, Singh D, Varon R, Sperling K. A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. Mol Vis. 2008;14:323-6 pubmed
..This is a novel mutation identified in the first transmembrane domain (M1) of GJA8. These findings further expand the mutation spectrum of connexin 50 (Cx50) in association with congenital cataract and microcornea. ..
Vanita V, Singh J, Singh D, Varon R, Sperling K. A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin. Mol Vis. 2008;14:1171-5 pubmed
..Mutations of the same codon have previously been described in British families with pulverulent cataract, suggesting that modifying factors may determine the type of cataract. ..
Vanita V, Singh J, Singh D, Varon R, Sperling K. Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. Mol Vis. 2009;15:476-81 pubmed
..This is the third report of a mutation in this exceptional member of the beta-/gamma-crystallin superfamily and further substantiates the genetic and clinical heterogeneity of autosomal dominant cataract. ..