Sarita Agarwal

Summary

Affiliation: Sanjay Gandhi Postgraduate Institute of Medical Sciences
Country: India

Publications

  1. ncbi Thalassemia intermedia: heterozygous beta-thalassemia and co-inheritance of an a gene triplication
    Sarita Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Hemoglobin 26:321-3. 2002
  2. ncbi Geographic and ethnic distribution of beta-thalassemia mutations in Uttar Pradesh, India
    S Agarwal
    Department of Medical Genetics, Sanjay Gandi Post Graduate Institute of Medical Sciences, Lucknow, India
    Hemoglobin 24:89-97. 2000
  3. ncbi Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India
    Vaikam H Sankar
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    J Appl Genet 47:391-5. 2006
  4. ncbi Status of HFE mutation in thalassemia syndromes in north India
    Sarita Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India
    Ann Hematol 86:483-5. 2007
  5. pmc Association of homocysteine and methylene tetrahydrofolate reductase (MTHFR C677T) gene polymorphism with coronary artery disease (CAD) in the population of North India
    Rajneesh Tripathi
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow India
    Genet Mol Biol 33:224-8. 2010
  6. doi Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major
    S Agarwal
    Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Int J Lab Hematol 32:369-72. 2010
  7. ncbi A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region
    Sarita Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Eur J Haematol 77:530-2. 2006
  8. ncbi Modifier genes and oligogenic disease
    Sarita Agarwal
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, India
    J Nippon Med Sch 72:326-34. 2005
  9. ncbi Prenatal diagnosis in beta-thalassemia: an Indian experience
    S Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Fetal Diagn Ther 18:328-32. 2003
  10. ncbi Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39
    Anju Gupta
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India
    Genet Test 7:163-8. 2003

Collaborators

Detail Information

Publications46

  1. ncbi Thalassemia intermedia: heterozygous beta-thalassemia and co-inheritance of an a gene triplication
    Sarita Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Hemoglobin 26:321-3. 2002
  2. ncbi Geographic and ethnic distribution of beta-thalassemia mutations in Uttar Pradesh, India
    S Agarwal
    Department of Medical Genetics, Sanjay Gandi Post Graduate Institute of Medical Sciences, Lucknow, India
    Hemoglobin 24:89-97. 2000
    ..The application of this knowledge has facilitated the successful implementation of the program of genetic counseling and prenatal diagnosis of beta-thalassemia, thus helping to avoid the birth of an affected child in India...
  3. ncbi Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India
    Vaikam H Sankar
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    J Appl Genet 47:391-5. 2006
    ..The a-gene mutation is quite common in the Indian subcontinent. Molecular genotyping of a-thalassemia helps to diagnose unexplained microcytosis, and thus prevents unnecessary iron supplementation...
  4. ncbi Status of HFE mutation in thalassemia syndromes in north India
    Sarita Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India
    Ann Hematol 86:483-5. 2007
    ..However, 47 cases were found heterozygous for the H63D mutation among the normal groups (11.16%)...
  5. pmc Association of homocysteine and methylene tetrahydrofolate reductase (MTHFR C677T) gene polymorphism with coronary artery disease (CAD) in the population of North India
    Rajneesh Tripathi
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow India
    Genet Mol Biol 33:224-8. 2010
    ..Our findings showed that MTHFR C677T polymorphism and homocysteine levels were associated with coronary artery disease in the selected population...
  6. doi Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major
    S Agarwal
    Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Int J Lab Hematol 32:369-72. 2010
    ..93-2A > C in the Indian subcontinent and has important implications for screening and prenatal diagnosis of beta thalassaemia. This report also supports inclusion of this mutation in the beta globin gene mutation database...
  7. ncbi A novel Indian beta-thalassemia mutation in the CACCC box of the promoter region
    Sarita Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Eur J Haematol 77:530-2. 2006
    ..This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for beta-globin, which in combination with a common mutation produces thalassemia major in the offspring of the family...
  8. ncbi Modifier genes and oligogenic disease
    Sarita Agarwal
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, India
    J Nippon Med Sch 72:326-34. 2005
    ..In the future, it is hoped that modifier genes will allow us to understand cell and protein interactions and thus allow us to understand the pathogenesis of disease...
  9. ncbi Prenatal diagnosis in beta-thalassemia: an Indian experience
    S Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Fetal Diagn Ther 18:328-32. 2003
    ..Prevention and control of beta-thalassemia disease require the accurate diagnosis of carriers and proper genetic counseling...
  10. ncbi Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39
    Anju Gupta
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India
    Genet Test 7:163-8. 2003
    ....
  11. doi Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population
    Srinivasan Muthuswamy
    Deptarment of Medical Genetics, SGPGIMS, Lucknow 226014, India
    Gene 539:125-31. 2014
    ..The aim of the study was to document the spectrum and distribution of CFTR mutations in controls, asthma and chronic pancreatitis cases of North India...
  12. ncbi Genetic predisposition of E-selectin gene (S128R) polymorphism in patients with coronary artery disease (CAD)
    Rajneesh Tripathi
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Med Res 130:423-7. 2009
    ..The present study was undertaken to document the status of S128R polymorphism of E-selectin gene in angiographically proven coronary artery disease (CAD) patients from Uttar Pradesh...
  13. doi Association of S549N and IVS8-5T splice variants with bronchial asthma and its severity in Indian children
    Nutan Maurya
    Translational Medicine Unit, Department of Pediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, India
    Genet Test Mol Biomarkers 16:884-91. 2012
    ..Cystic fibrosis transmembrane conductance regulator (CFTR) is an asthma susceptibility gene. Individuals heterozygous for CFTR gene mutation may develop obstructive pulmonary disease like bronchial asthma...
  14. doi Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies
    Shalu Jain
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Genet Test Mol Biomarkers 16:624-7. 2012
    ..5% cases of maternal nondisjunction and 100% cases of paternal nondisjunction. The combination of three STR markers is highly informative and can be used for diagnosis of trisomy 21 in India...
  15. ncbi Association of coronary artery disease with polymorphisms of angiotensin-converting enzyme and methylenetetrahydrofolate reductase gene
    Ashwin B Dalal
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow
    Indian Heart J 58:330-5. 2006
    ..Our study aimed to assess the association between common polymorphisms in these genes and susceptibility to coronary artery disease...
  16. doi Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experience
    Ravindra Kumar
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014 Uttar Pradesh, India
    Indian J Pediatr 79:68-74. 2012
    ..To study the issues and dilemmas in prenatal diagnosis of Sickle cell anemia (SCA) and to evaluate the role of genetic modifiers in counseling the families...
  17. doi STR markers for detecting heterogeneity in Indian population
    Shalu Jain
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raibareilly Road, Lucknow, 226014, India
    Mol Biol Rep 39:461-5. 2012
    ..All the loci were found highly polymorphic. Marker D21S1411 was the most informative (93.6%) and D21S1435 (70.1%) was the least informative marker in Indian population...
  18. doi Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India
    Parag M Tamhankar
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India
    Prenat Diagn 29:83-8. 2009
    ..To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India...
  19. doi Genetic predisposition for development of nephropathy in type 2 diabetes mellitus
    Ravindra Kumar
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, Uttar Pradesh, India
    Biochem Genet 51:865-75. 2013
    ..We observed a significant association of MTHFR C677T with development of diabetic nephropathy in type 2 diabetics. The MTHFR C677T polymorphism plays a significant role in predisposition of renal insufficiency in diabetic patients...
  20. doi Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population
    Shalu Jain
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Indian J Gastroenterol 30:161-5. 2011
    ..To find out the association of common HFE mutations (viz., C282Y and H63D) with primary iron overload (PIL) in liver cirrhosis (CLD) patients of Indian origin...
  21. ncbi MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect
    Ashwin Dalal
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Gynecol Obstet Invest 63:146-50. 2007
    ..Since the closure of neural tube occurs at multiple sites, the etiology of defect at different sites may be different - which explains the failure of folic acid supplementation to prevent all NTDs...
  22. ncbi Association of methylenetetrahydrofolate reductase genetic polymorphisms with atlantoaxial dislocation
    Mandakini Pradhan
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    J Neurosurg Spine 7:623-30. 2007
    ..The authors studied association of polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, which encodes enzymes of the folate pathway (implicated in causation of neural tube defects [NTDs]), in patients with AAD...
  23. doi A sequence variation: 713-8delC in the transforming growth factor beta 1 gene polymorphism in thalassemia major patients
    Kritanjali Singh
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    J Clin Densitom 17:185-9. 2014
    ..061) and hips (p = 0.773). However, Cc genotype of TGF-β1 gene was found as a risk factor (odds ratio: 3.3) for low bone density in these patients...
  24. ncbi Initiation codon mutation in an Asian Indian family
    Anju Gupta
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India
    Am J Hematol 71:134-6. 2002
    ..This study, as previous studies, suggests that rare beta-thalassemia mutations, such as the initiation codon mutations, have no set geographical distribution and are relatively recent...
  25. ncbi Angiotensin-converting enzyme gene polymorphism in coronary artery disease in north India
    Suraksha Agrawal
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Indian Heart J 56:44-6. 2004
    ..The aim of this study was to investigate the role of angiotensin-converting enzyme gene polymorphism in patients with coronary artery disease in north India...
  26. doi Genetic insight of schizophrenia: past and future perspectives
    Shweta Singh
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences SGPGIMS, Lucknow 226014, India Electronic address
    Gene 535:97-100. 2014
    ..In this review, we outline a general theoretical background of genetic mechanisms involved in SCZ. ..
  27. doi Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India
    Kritanjali Singh
    Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Hematology 17:291-6. 2012
    ..Vitamin D receptors (VDRs - FokI, TaqI, and Bsml) polymorphisms are closely related to low BMD at the lumbar spine and hips which can be used as a useful genetic marker in predicting bone disease in these patients...
  28. pmc "Down syndrome: an insight of the disease"
    Ambreen Asim
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India
    J Biomed Sci 22:41. 2015
    ..Moreover, we have also reviewed various prenatal diagnostic method from karyotyping to rapid molecular methods -  MLPA, FISH, QF-PCR, PSQ, NGS and noninvasive prenatal diagnosis in detail. ..
  29. pmc Does vitamin D improve osteoarthritis of the knee: a randomized controlled pilot trial
    Divya Sanghi
    Department of Orthopaedic Surgery, King George s Medical University, Nabiullah Road, near Daliganj Chauraha, Lucknow, India
    Clin Orthop Relat Res 471:3556-62. 2013
    ..Inadequate sunlight exposure and lower serum levels of 25(OH)D appear in some reports to be associated with an increased risk for progression of knee OA...
  30. doi Preeclampsia in North Indian women: the contribution of genetic polymorphisms
    Shagun Aggarwal
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    J Obstet Gynaecol Res 37:1335-41. 2011
    ....
  31. doi Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis
    Shalu Jain
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Genet Test Mol Biomarkers 14:489-91. 2010
    ..Conventional karyotyping for antenatal diagnosis is time consuming and hence there has been a growing interest in more rapid techniques for detection of chromosomal aneuploidies. Around 95% of Down syndrome cases are due to free trisomy 21...
  32. doi Performance of QF-PCR in targeted prenatal aneuploidy diagnosis: Indian scenario
    Srinivasan Muthuswamy
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Gene 562:55-61. 2015
    ..The study was designed to answer the question whether QF-PCR can be implemented as a standalone diagnostic method for rapid aneuploidy diagnosis in our present clinical setup?..
  33. pmc Frequency of CFTR, SPINK1, and cathepsin B gene mutation in North Indian population: connections between genetics and clinical data
    Shweta Singh
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India
    ScientificWorldJournal 2014:763195. 2014
    ....
  34. doi Association of CFTR gene mutation with bronchial asthma and its severity in Indian children: a case-control study
    Shally Awasthi
    Department of Pediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, India
    Ann Hum Biol 39:113-21. 2012
    ..Asthma is a complex genetic disorder. Several genes have been found associated with asthma. The cystic fibrosis transmembrane conductance regulator (CFTR) gene is one of them...
  35. pmc Association of polymorphic pattern of the (AT) × (T)y motif of β-globin gene in North Indian thalassemia patients with variable clinical expression
    Vandana Arya
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh India
    Indian J Hematol Blood Transfus 26:21-3. 2010
    ..We conclude that polymorphism -158(C→T) Gγ and (AT) × (T)y sequence variation other than (AT)(7)(T)(7) could influence the phenotype by increasing Hb F expression...
  36. ncbi Rapid detection of alpha + thalassaemia deletion & alpha-globin gene triplication by Gap-PCR in Indian subjects
    Sarita Agarwal
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    Indian J Med Res 116:155-61. 2002
    ..The present paper emphasizes the efficacy of a well-established Gap-PCR technique in the Indian set up to detect defects of the alpha globin gene in clinics and laboratories engaged in the diagnosis of thalassaemias...
  37. doi Segmental Duplication QF-PCR: A Simple and Alternative Method of Rapid Aneuploidy Testing for Developing Country Like India
    Srinivasan Muthuswamy
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    J Clin Lab Anal . 2016
    ..Segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR) emerged as an alternative aneuploidy diagnostic method...
  38. doi Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reac
    Srinivasan Muthuswamy
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Genetics, Lucknow, Uttar Pradesh, India
    Neurol India 64:1175-1179. 2016
    ..At present, there are a number of methods available with their own merits and demerits...
  39. doi CRHR1 Gene SNPs and Response to Systemic Corticosteroids in Indian Asthmatic Children During Acute Exacerbation
    Shally Awasthi
    Department of Pediatrics, King George s Medical University, Lucknow, Uttar Pradesh, 226003, India
    Indian J Pediatr 82:781-6. 2015
    ....
  40. doi Friedreich Ataxia: From the Eye of a Molecular Biologist
    Srinivasan Muthuswamy
    Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
    Neurologist 20:51-5. 2015
    ..The therapeutic interventions are at infancy; however, current treatments are targeted toward the reduction of iron overload and its effects...
  41. doi Huntington's disease: an update of therapeutic strategies
    Ashok Kumar
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India Electronic address
    Gene 556:91-7. 2015
    ..Although there is intensive research into HD and recent findings seem promising, effective therapeutic strategies may not be developed until the next few decades. ..
  42. doi Haplotype analysis and LD detection at DM1 locus
    Ashok Kumar
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India Electronic address
    Gene 567:45-50. 2015
    ..The polymorphic markers HhaI & HinfI; HinfI & BpmI; and HinfI & CKMM TaqI showed significant LD. In comparison to other population, HhaI and HinfI have common origin of mutation. ..
  43. doi Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder
    Ashok Kumar
    Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India
    Gene 522:226-30. 2013
    ..This review will focus on the clinical features, molecular view and genetics, diagnosis and management of DM1...
  44. ncbi Molecular characterization of thalassemia intermedia in Indians
    Inusha Panigrahi
    Haematologica 91:1279-80. 2006
    ..In heterozygous beta-thalassemia, alphaalphaalphaanti-3.7 triplication was the predominant factor (14/23 cases)...
  45. ncbi Rare beta-thalassemia mutations are cause of concern
    Anju Gupta
    Am J Hematol 76:312. 2004
  46. ncbi Thromboembolic complications in beta-thalassemia: Beyond the horizon
    Inusha Panigrahi
    Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh 12, India
    Thromb Res 120:783-9. 2007
    ..These factors and possible preventive measures are discussed in this review. An illustrative case is also presented...