Publications by authors named "Indu R Singh"
Objectives: Our aim in this study was to determine the association of erythropoietin (EPO) gene polymorphisms with diabetic retinopathy in patients with type 2 diabetes from northern India.
Methods: In this case-control study, we recruited 614 participants, consisting of 302 diabetic retinopathy cases and 312 individuals with confirmed type 2 diabetes without retinopathy as controls. EPO polymorphism analysis was performed in all participants using polymerase chain reaction and direct DNA sequence analysis.
Background: To identify the underlying genetic defect in a fourth-generation autosomal recessive retinitis pigmentosa (arRP) family. Detailed family history and clinical data were collected from nine members, including three affected, from an arRP family.
Methods: Whole-exome sequencing (WES) was performed on DNA sample of an affected individual IV: 2.
A novel mutation in MERTK for rod-cone dystrophy in a North Indian family.
Can J Ophthalmol
February 2019
Objective: To identify the underlying genetic defect of childhood-onset severe rod-cone dystrophy (RCD) in a consanguineous family from North India with autosomal recessive retinitis pigmentosa.
Methods: A detailed family history, clinical data, and blood samples were collected from 11 members of the family, including 4 affected by an autosomal recessive rod-cone dystrophy (arRCD), and DNA was extracted. Whole-exome sequencing (WES) was performed on DNA samples of proband and her unaffected maternal uncle.
Purpose: To identify the underlying genetic defect for non-syndromic autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in a North Indian family.
Methods: Family history and clinical data were collected. Linkage analysis using 72 fluorescently labeled microsatellite markers flanking all the 26 candidate genes known for adRP was performed.