Research TopicsSpecies | I C VermaSummaryCountry: India Publications
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Publications
Spectrum of severe skeletal dysplasias in North IndiaRatna D Puri
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
Indian J Pediatr 74:995-1002. 2007..We describe our experience of the severe skeletal dysplasias diagnosed amongst fetal autopsies done at a tertiary level centre over a five year period...
ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)Seema Thakur
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
Indian J Med Res 134:483-6. 2011..Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene...- Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) geneSeema Thakur
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
Indian Pediatr 48:733-4. 2011..We report a 2.5 year old girl with severe congenital hyperinsulinism. Mutation analysis showed that the child is a compound heterozygote for two missense mutations in the ABCC8 gene... - Utility of molecular studies in incontinentia pigmenti patientsSeema Thakur
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
Indian J Med Res 133:442-5. 2011..We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis... - Case report of HbC/beta(0)-thalassemia from IndiaS Kumar
Department of Haematology, Sir Ganga Ram Hospital, New Delhi, India
Int J Lab Hematol 29:381-5. 2007..To the best of our knowledge, this is the first confirmed report of HbC from India. The paper discusses the hematological findings in this subject and her mother (a compound heterozygote for HbD(Punjab) and HbC)... - Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram HospitalI C Verma
Department of Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060
Indian J Pediatr 70:293-7. 2003..The commonest indication for amniocentesis has changed to advanced maternal age. CONCLUSION: Advanced molecular, cytogenetic and biochemical techniques have been a useful addition for genetic counseling and prenatal diagnosis in India... - Genetic counseling in acrocallosal syndromeSunita Bijarnia
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
Indian J Pediatr 70:169-71. 2003..It is emphasized that pediatricians should make precise diagnosis in cases of dysmorphism and mental retardation, as this enable prenatal diagnosis in future pregnancies... - Leber's hereditary optic neuropathy with molecular characterization in two Indian familiesI C Verma
Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
Indian J Ophthalmol 53:167-71. 2005..Usually there is a positive family history of similar disease on the maternal side. Definitive diagnosis can be established by finding the change in the mitochondrial gene. No molecular studies have been reported from India... - Factor VIII gene polymorphisms in the Asian Indian populationM R Chowdhury
Genetics Unit, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India
Haemophilia 6:625-30. 2000..Application of HindIII, BclI and the intron 22 dinucleotide repeat combined were diagnostic in 87.2% of haemophilia A families studied... - Regional distribution of beta-thalassemia mutations in IndiaI C Verma
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
Hum Genet 100:109-13. 1997..The application of this knowledge has helped to successfully establish a program of genetic counselling and prenatal diagnosis of beta-thalassemia in order to reduce the burden of this disease in India... - A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian familyE Flachsova
Department of Pediatrics and Center for Integrated Genomics, Charles University in Prague, 1st Faculty of Medicine, Prague, Czech Republic
Folia Biol (Praha) 53:194-201. 2007..It is, therefore, important that diseaseoriented Internet pages for public use should be designed with clarity and accurate current knowledge based background... - Multiple Sclerosis in Keralite siblings after migration to the Middle East: a report of familial Multiple Sclerosis from IndiaSunil K Narayan
Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry 6, India
J Neurol Sci 260:244-8. 2007..To report Multiple Sclerosis (MS) in two migrant Indian siblings in the Middle East... - Improving child health in IndiaI C Verma
Indian J Pediatr 71:13. 2004 - Molecular analysis of Huntington's disease and linked polymorphisms in the Indian populationQ Saleem
Functional Genomics Unit, Centre for Biochemical Technology CSIR, Mall Road, Delhi, India
Acta Neurol Scand 108:281-6. 2003..To understand the population variation and haplotypes of Huntington's disease (HD) in India we have analysed CAG repeats at the HD locus together with closely linked polymorphisms in both HD patients and normal controls... - Study of the single nucleotide polymorphism (SNP) at the palindromic sequence of hypersensitive site (HS)4 of the human beta-globin locus control region (LCR) in Indian populationRitushree Kukreti
Functional Genomics Unit, Centre for Biochemical Technology (CSIR, Delhi University Campus, Delhi, India
Am J Hematol 69:77-9. 2002..We also observed linkage disequilibrium between the A/G polymorphism and the AT-rich motif of the LCR HS2 region, suggesting that the G allele could be an evolutionarily new mutation in the study population... - SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian familyH Fujigasaki
INSERM U289, Paris, France
Ann Neurol 49:117-21. 2001..The association of the PPP2R2B CAG repeat expansion with disease in this new family provides additional evidence that the mutation is causative... - A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C geneP K Jain
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850 3227, USA
Genomics 50:290-2. 1998..6 cM and encompasses the region of Usher syndrome type 1C (USH1C). We postulate that DFNB18 and USH1C are allelic variants of the same gene... - Dengue haemorrhagic fever in children in DelhiS K Kabra
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
Bull World Health Organ 70:105-8. 1992..3% (7 of 21). Patients who survived had no sequelae, except one who had transient hypertension that lasted for two weeks...