I C Verma

Summary

Country: India

Publications

  1. ncbi Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital
    I C Verma
    Department of Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060
    Indian J Pediatr 70:293-7. 2003
  2. ncbi Spectrum of severe skeletal dysplasias in North India
    Ratna D Puri
    Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
    Indian J Pediatr 74:995-1002. 2007
  3. pmc Fanconi-Bickel syndrome - mutation in SLC2A2 gene
    Mohit Kehar
    Division of Pediatric Gastroenterology and Hepatology, Sir Ganga Ram Hospital, Rajendra Nagar, New Delhi, India
    Indian J Pediatr 81:1237-9. 2014
  4. pmc 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
  5. ncbi Ethylmalonic Encephalopathy in an Indian Boy
    Sunita Bijarnia-Mahay
    Institute of Medical Genetics and Genomics and Department of Molecular Genetics, Sir Ganga Ram Hospital, New Delhi, India Department of Health Science, University of Fukui, Japan and Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan Correspondence to Dr Sunita Bijarnia Mahay, Senior Consultant and Associate Professor, GRIPMER, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India
    Indian Pediatr 53:914-916. 2016
  6. ncbi MoM cutoffs for variables, an important tool for multivariate analysis and accurate interpretation of preeclampsia risk in high-risk pregnancy at 11-13+6 weeks gestation
    Jyotsna Verma
    a Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India
    Hypertens Pregnancy 35:548-558. 2016
  7. ncbi Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene
    Seema Thakur
    Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
    Indian Pediatr 48:733-4. 2011
  8. pmc Utility of molecular studies in incontinentia pigmenti patients
    Seema Thakur
    Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
    Indian J Med Res 133:442-5. 2011
  9. ncbi Case report of HbC/beta(0)-thalassemia from India
    S Kumar
    Department of Haematology, Sir Ganga Ram Hospital, New Delhi, India
    Int J Lab Hematol 29:381-5. 2007
  10. ncbi Leber's hereditary optic neuropathy with molecular characterization in two Indian families
    I C Verma
    Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India
    Indian J Ophthalmol 53:167-71. 2005

Collaborators

  • Seema Thakur
  • Sudhir Kumar
  • Satish Jain
  • John Cherian
  • Renu Saxena
  • Ratna D Puri
  • Sunita Bijarnia-Mahay
  • Jyotsna Verma
  • Sunita Bijarnia
  • Mohit Kehar
  • Sunil K Narayan
  • E Flachsova
  • Q Saleem
  • Yosuke Shigematsu
  • Deepti Gupta
  • Seiji Yamaguchi
  • Divya C Thomas
  • Geetu Jhingan
  • Jayne Houghton
  • Ritushree Kukreti
  • Sian Ellard
  • Nishant Wadhwa
  • H Fujigasaki
  • M R Chowdhury
  • Nicole Baumann
  • C S Raman
  • J Zeman
  • P Martasek
  • D Ulbrichova
  • V Saudek
  • P Prabhakar
  • S Elangovan
  • P K Jain
  • Ashok Baijal
  • S Roy
  • S K Brahmachari
  • U Murgood
  • A Anand
  • U Muthane
  • Swapan Kr Das
  • Flavian Vaz
  • Geeta Talukder
  • Madhusnata De
  • Samir K Brahmachari
  • Chandrika B-Rao
  • C A Ross
  • C Zander
  • I Anand
  • R L Margolis
  • A Durr
  • A S Lebre
  • S E Holmes
  • L Jamot
  • A Brice
  • A Camuzat
  • M Kabra
  • C T Lambert
  • P S Menon
  • F H Herrmann
  • H K Kumbnani
  • M Layton
  • M R Lalloz
  • W Schroder
  • R J Smith
  • T L Singleton
  • A Chen
  • T N Smith
  • E R Wilcox
  • A K Lalwani
  • D Deshmukh
  • X C Li
  • S K Kabra
  • Y Jain
  • N K Arora
  • V Kalra

Detail Information

Publications21

  1. ncbi Genetic counseling and prenatal diagnosis in India--experience at Sir Ganga Ram Hospital
    I C Verma
    Department of Genetic Medicine, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060
    Indian J Pediatr 70:293-7. 2003
    ..These data are compared with previous studies and a change towards increased prenatal diagnostic tests is observed. The commonest indication for amniocentesis has changed to advanced maternal age...
  2. ncbi Spectrum of severe skeletal dysplasias in North India
    Ratna 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...
  3. pmc Fanconi-Bickel syndrome - mutation in SLC2A2 gene
    Mohit Kehar
    Division of Pediatric Gastroenterology and Hepatology, Sir Ganga Ram Hospital, Rajendra Nagar, New Delhi, India
    Indian J Pediatr 81:1237-9. 2014
    ..The primary reason for referral to authors' hospital was for liver transplantation, but an accurate diagnosis led to avoidance of the major surgery and streamlining of treatment with clinical benefit to the child and family. ..
  4. pmc 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...
  5. ncbi Ethylmalonic Encephalopathy in an Indian Boy
    Sunita Bijarnia-Mahay
    Institute of Medical Genetics and Genomics and Department of Molecular Genetics, Sir Ganga Ram Hospital, New Delhi, India Department of Health Science, University of Fukui, Japan and Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan Correspondence to Dr Sunita Bijarnia Mahay, Senior Consultant and Associate Professor, GRIPMER, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India
    Indian Pediatr 53:914-916. 2016
    ..Ethylmalonic encephalopathy is a rare inborn error of metabolism characterized by neurodevelopmental delay / regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea...
  6. ncbi MoM cutoffs for variables, an important tool for multivariate analysis and accurate interpretation of preeclampsia risk in high-risk pregnancy at 11-13+6 weeks gestation
    Jyotsna Verma
    a Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India
    Hypertens Pregnancy 35:548-558. 2016
    ....
  7. ncbi Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene
    Seema 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...
  8. pmc Utility of molecular studies in incontinentia pigmenti patients
    Seema 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...
  9. ncbi Case report of HbC/beta(0)-thalassemia from India
    S 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)...
  10. ncbi Leber's hereditary optic neuropathy with molecular characterization in two Indian families
    I 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...
  11. ncbi Regional distribution of beta-thalassemia mutations in India
    I 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...
  12. ncbi Genetic counseling in acrocallosal syndrome
    Sunita 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...
  13. ncbi Factor VIII gene polymorphisms in the Asian Indian population
    M 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...
  14. ncbi Improving child health in India
    I C Verma
    Indian J Pediatr 71:13. 2004
  15. ncbi A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene
    P 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...
  16. ncbi SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family
    H 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...
  17. ncbi 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 population
    Ritushree 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...
  18. ncbi A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended Indian family
    E 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...
  19. ncbi Multiple Sclerosis in Keralite siblings after migration to the Middle East: a report of familial Multiple Sclerosis from India
    Sunil 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...
  20. ncbi Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population
    Q 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...
  21. pmc Dengue haemorrhagic fever in children in Delhi
    S 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...