Madhulika Kabra

Summary

Publications

  1. ncbi request reprint Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations
    Shallu Midha
    Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi 110029, India
    Gut 59:800-7. 2010
  2. doi request reprint Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation
    Rajni Khajuria
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India
    Brain Dev 34:28-31. 2012
  3. ncbi request reprint Disseminated cryptococcosis
    Meenakshi Bothra
    Departments of Pediatrics and Pathology, All India Institute of Medical Sciences, New Delhi, India Correspondence to Dr Madhulika Kabra, Additional Professor, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian Pediatr 51:225-6. 2014
  4. ncbi request reprint Prenatal diagnosis
    Madhulika Kabra
    Department of Pediatrics, Genetics Sub Division, All India Institute of Medical Sciences, New Delhi
    Indian J Pediatr 70:81-5. 2003
  5. ncbi request reprint Mental retardation
    Madhulika Kabra
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian J Pediatr 70:153-8. 2003
  6. ncbi request reprint Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy
    Madhulika Kabra
    Divisions of Genetics and Neonatology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
    Indian Pediatr 40:415-8. 2003
  7. ncbi request reprint Dietary management of inborn errors of metabolism
    Madhulika Kabra
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
    Indian J Pediatr 69:421-6. 2002
  8. doi request reprint Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population
    Pallavi Shukla
    Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences AIIMS, New Delhi 110029, India
    J Neurol Sci 301:38-45. 2011
  9. doi request reprint A novel MECP2 change in an indian boy with variant rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis
    Rajni Khajuria
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    J Child Neurol 26:209-13. 2011
  10. doi request reprint Norrie disease: first mutation report and prenatal diagnosis in an Indian family
    Manju Ghosh
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India
    Indian J Pediatr 79:1529-31. 2012

Detail Information

Publications90

  1. ncbi request reprint Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations
    Shallu Midha
    Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi 110029, India
    Gut 59:800-7. 2010
    ..To study the genetic predisposition, phenotype and prognosis of idiopathic chronic pancreatitis (CP)...
  2. doi request reprint Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation
    Rajni Khajuria
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India
    Brain Dev 34:28-31. 2012
    ..Most of the times, the mutation carried in a family is the same as found in affected child...
  3. ncbi request reprint Disseminated cryptococcosis
    Meenakshi Bothra
    Departments of Pediatrics and Pathology, All India Institute of Medical Sciences, New Delhi, India Correspondence to Dr Madhulika Kabra, Additional Professor, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian Pediatr 51:225-6. 2014
    ..Fungal infections, especially in immunocompetent children are uncommon causes of fever of unknown origin...
  4. ncbi request reprint Prenatal diagnosis
    Madhulika Kabra
    Department of Pediatrics, Genetics Sub Division, All India Institute of Medical Sciences, New Delhi
    Indian J Pediatr 70:81-5. 2003
    ..Ethical issues are already around regarding prenatal testing for disabilities like deafness and late onset disorders. The present communication is an effort to present the clinician's perspective of prenatal diagnosis...
  5. ncbi request reprint Mental retardation
    Madhulika Kabra
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian J Pediatr 70:153-8. 2003
    ..Having an etiological explanation aids in the development of a specific treatment plan; helps families understand prognosis and recurrence risk and on the community level assists in the development of preventive strategies...
  6. ncbi request reprint Preserved umbilical cord facilitates antenatal diagnosis of spinal muscular atrophy
    Madhulika Kabra
    Divisions of Genetics and Neonatology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
    Indian Pediatr 40:415-8. 2003
    ..Prenatal diagnosis was provided in the subsequent pregnancy. We emphasize the need for storing DNA from individuals affected with suspected single gene disorders...
  7. ncbi request reprint Dietary management of inborn errors of metabolism
    Madhulika Kabra
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
    Indian J Pediatr 69:421-6. 2002
    ..Commercially available diets are very expensive and modification in routine Indian diet may be tried based on content of different nutrients but the desirable fine control is not achieved...
  8. doi request reprint Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population
    Pallavi Shukla
    Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences AIIMS, New Delhi 110029, India
    J Neurol Sci 301:38-45. 2011
    ..Homology modeling helped to study conformational change in protein and has implications in generating novel therapeutic molecules...
  9. doi request reprint A novel MECP2 change in an indian boy with variant rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis
    Rajni Khajuria
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    J Child Neurol 26:209-13. 2011
    ....
  10. doi request reprint Norrie disease: first mutation report and prenatal diagnosis in an Indian family
    Manju Ghosh
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India
    Indian J Pediatr 79:1529-31. 2012
    ..The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized...
  11. doi request reprint Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy
    Pallavi Shukla
    Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Pediatr Neurol 44:450-8. 2011
    ..We recommend screening for the commonest mutation (c.135_136insC), followed by the next commonest mutation (c.959C>A), and then other rare mutations, using conformation-sensitive gel electrophoresis analysis or direct sequencing...
  12. doi request reprint Association of SPINK1 gene mutation and CFTR gene polymorphisms in patients with pancreas divisum presenting with idiopathic pancreatitis
    Pramod Kumar Garg
    Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi, India
    J Clin Gastroenterol 43:848-52. 2009
    ..Pancreas divisum has been associated with idiopathic pancreatitis. However, the causal association remains controversial...
  13. ncbi request reprint Noninvasive screening for preclinical atherosclerosis in children on phenytoin or carbamazepine monotherapy: a cross sectional study
    Naveen Sankhyan
    Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Epilepsy Res 107:121-6. 2013
    ....
  14. doi request reprint Effectiveness and safety of donepezil in boys with fragile x syndrome: a double-blind, randomized, controlled pilot study
    Jitendra Kumar Sahu
    Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
    J Child Neurol 28:570-5. 2013
    ..The study failed to show significant difference in intelligence quotient and behavioral scales with donepezil therapy over 12 weeks. However, donepezil appeared to be safe and well tolerated...
  15. doi request reprint Efficacy of 4:1 (classic) versus 2.5:1 ketogenic ratio diets in refractory epilepsy in young children: a randomized open labeled study
    K N Vykunta Raju
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India
    Epilepsy Res 96:96-100. 2011
    ..This study was planned to compare the efficacy and tolerability of 2.5:1 versus 4:1 lipid:non-lipid ratio KD in young children with refractory epilepsy...
  16. doi request reprint Intranasal versus intravenous lorazepam for control of acute seizures in children: a randomized open-label study
    Ravindra Arya
    Division of Pediatric Neurology, Department of Pediatrics Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Epilepsia 52:788-93. 2011
    ..This study compared the efficacy and adverse effects of intranasal versus intravenous lorazepam in children aged 6-14 years who presented with acute seizures...
  17. doi request reprint Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome
    Utkarsh Kohli
    Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India
    Downs Syndr Res Pract 12:133-7. 2008
    ..Homocysteine levels in our study were higher when compared to other studies. Methylcobolamin and folate deficiency or use of random samples for homocysteine determination could possibly account for this observation...
  18. doi request reprint Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin
    Rajni Khajuria
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Genet Test Mol Biomarkers 13:277-80. 2009
    ..We suggest that a simple PCR can easily detect deletions in the hotspot CTS region of the MECP2 gene and can be used for routine molecular diagnostics of RS...
  19. doi request reprint Three novel variants in X-linked adrenoleukodystrophy
    Pallavi Shukla
    Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
    J Child Neurol 24:857-60. 2009
    ..There is a scarcity of reports on mutation analysis of X-linked adrenoleukodystrophy from India. Here, we report 3 novel variants (c.67_83del17, c.395G>A, c.1938_1939dupGG) in 3 unrelated Indian families...
  20. doi request reprint Comparison of heart rate variability among children with well controlled versus refractory epilepsy: a cross-sectional study
    K N Vykunta Raju
    Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India
    Epilepsy Res 101:88-91. 2012
    ....
  21. doi request reprint Evaluation of subclinical hypothyroidism in ambulatory children with controlled epilepsy on valproate monotherapy
    Jitendra K Sahu
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    J Child Neurol 27:594-7. 2012
    ..Results of the present study suggest higher prevalence of subclinical hypothyroidism in children with controlled epilepsy on long-term valproate monotherapy...
  22. ncbi request reprint Aetiology of global developmental delay in young children: experience from a tertiary care centre in India
    Anurag Tikaria
    Department of Paediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India
    Natl Med J India 23:324-9. 2010
    ..Global developmental delay is a common reason for referral to a paediatrician. We examined the aetiological yield of an extensive diagnostic work-up in young children with developmental delay in a tertiary referral centre...
  23. ncbi request reprint Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent
    Gurpreet Singh Kochar
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Clin Dysmorphol 19:153-6. 2010
  24. pmc Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes
    Ashutosh Halder
    Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
    Indian J Med Res 138:135-42. 2013
    ..Fluorescence in situ hybridization (FISH) technique is commonly used for precise genetic diagnosis of microdeletion syndromes. This study was conducted to assess the role of FISH in the diagnosis of suspected microdeletion syndrome...
  25. ncbi request reprint Incidence of acute kidney injury in hospitalized children
    Poonam Mehta
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian Pediatr 49:537-42. 2012
    ..To determine the incidence and outcome of acute kidney injury (AKI) in hospitalized patients...
  26. doi request reprint Macrocephaly with diffuse white matter changes simulating a leukodystrophy in Menkes disease
    Puneet Jain
    Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India
    Indian J Pediatr 80:160-2. 2013
    ..The authors describe a case of Menkes disease with unusual imaging findings. The patient had macrocephaly and symmetrical bilateral confluent white matter changes with temporal cystic areas, reminiscent of megalencephalic leukodystrophy...
  27. doi request reprint Blood ammonia levels in epileptic children on 2 dose ranges of valproic acid monotherapy: a cross-sectional study
    Suvasini Sharma
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    J Child Neurol 26:109-12. 2011
    ..77, P < .001) and serum levels (r = .88, P < .001) of valproic acid. All the children with hyperammonemia were asymptomatic. There were no significant differences in the other biochemical parameters between the 2 groups...
  28. doi request reprint Epilepsy in children with Down syndrome
    Ravindra Arya
    Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Epileptic Disord 13:1-7. 2011
    ..Various cellular and molecular mechanisms contribute to epileptogenesis in DS and offer an interesting field of study...
  29. doi request reprint Prevalence of celiac disease in Indian children with Down syndrome and its clinical and laboratory predictors
    Abdus Sami Bhat
    Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India
    Indian J Pediatr 80:114-7. 2013
    ..To study the prevalence of celiac disease in Indian children with Down syndrome and evaluate its clinical and laboratory predictors...
  30. doi request reprint Peripheral neuropathy in cystic fibrosis: a prevalence study
    Biswaroop Chakrabarty
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India
    J Cyst Fibros 12:754-60. 2013
    ..Information on peripheral neuropathy in children with cystic fibrosis is scanty. The etiology can be multifactorial (micronutrient deficiency, chronic hypoxia, impaired glucose tolerance, immunological, vasculopathic, critical illness)...
  31. doi request reprint Efficacy of modified constraint induced movement therapy in improving upper limb function in children with hemiplegic cerebral palsy: a randomized controlled trial
    Anita Choudhary
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India
    Brain Dev 35:870-6. 2013
    ....
  32. doi request reprint Schwartz Jampel syndrome in children
    Ravindra Arya
    Division of Pediatric Neurology, Department of Pediatrics, 3rd Floor, Teaching Block, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India
    J Clin Neurosci 20:313-7. 2013
    ..We report six Indian children with this disorder presenting with different clinical manifestations...
  33. doi request reprint Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype
    Neerja Gupta
    Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Clin Dysmorphol 21:113-7. 2012
    ..Arylsulfatase E gene analysis would further help in establishing the genotype-phenotype correlation...
  34. doi request reprint Lead encephalopathy in an infant mimicking a neurometabolic disorder
    Jitendra K Sahu
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    J Child Neurol 25:390-2. 2010
    ..He showed significant improvement. Our case highlights the importance of taking a detailed occupational history and considering lead poisoning in the differential diagnosis of encephalopathy of unidentifiable cause...
  35. ncbi request reprint Hypomelanosis of Ito with hemimegalencephaly
    Suvasini Sharma
    Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Dermatol Online J 15:12. 2009
    ..Hemihypertrophy has also been described in this syndrome. We present a 3-month-old male infant with Hypomelanosis of Ito, hemi-hypertrophy and hemi-megalencephaly...
  36. doi request reprint Use of HbA estimation by CE-HPLC for prenatal diagnosis of beta-thalassemia; experience from a tertiary care centre in north India: a brief report
    Seema Rao
    Department of Hematology, All India Institute of Medical Sciences, New Delhi, India
    Hematology 14:122-4. 2009
    ..A normal range for the population was calculated by running 14 cord blood samples of non-thalassemic abortuses of the same gestation. A 6 month post-natal follow-up was possible in 18 cases. All but one of these corroborated their PND...
  37. ncbi request reprint Detecting fetomaternal hemorrhage after first-trimester abortion with the Kleihauer-Betke test and rise in maternal serum alpha-fetoprotein
    Kaberi Banerjee
    Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, New Delhi, India
    J Reprod Med 49:205-9. 2004
    ..To compare the incidence and detect the volume of fetomaternal hemorrhage (FMH) during first-trimester abortion with the Kleihauer-Betke test (KBT) and rise in maternal serum alpha-fetoprotein (AFP)...
  38. ncbi request reprint Clinical profile and frequency of delta f508 mutation in Indian children with cystic fibrosis
    S K Kabra
    Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India
    Indian Pediatr 40:612-9. 2003
    ..To document clinical profile of cystic fibrosis (CF) in Indian children and the prevalence of delta F508 mutation in these patients...
  39. ncbi request reprint Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders
    Ravinder Goswami
    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India
    Fertil Steril 80:1052-4. 2003
    ..To determine the prevalence of triple X females among patients with premature ovarian failure and to describe the clinical features of the syndrome...
  40. ncbi request reprint Carrier frequency of F508del mutation of cystic fibrosis in Indian population
    Vishal Kapoor
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110 029, India
    J Cyst Fibros 5:43-6. 2006
    ..The present study was done to estimate the carrier frequency of F508del mutation among neonates using cord blood samples to reflect the prevalence of CF in the study population...
  41. ncbi request reprint Thrombocytopenic purpura as a presenting manifestation of tubercular lymphadenitis
    Sameer Bakhshi
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian J Pediatr 70:993-4. 2003
    ..This report illustrates immune thrombocytopenia as a rare manifestation of childhood tuberculosis; the authors also discuss other causes of thrombocytopenia in childhood tuberculosis...
  42. ncbi request reprint Dystrophinopathy diagnosis made easy: skin biopsy, an emerging novel tool
    Biswaroop Chakrabarty
    1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    J Child Neurol 29:469-74. 2014
    ..It being a simple and minimally invasive procedure, histopathologic and molecular markers of disease progression and response to novel treatment options can be assessed serially...
  43. doi request reprint Neurodevelopmental and epilepsy outcome in children aged one to five years with infantile spasms--a North Indian cohort
    Rachna Sehgal
    Division of Child Neurology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India Electronic address
    Epilepsy Res 108:526-34. 2014
    ..Moreover, most previous studies have either not used strict inclusion criteria or standardized psychometric tests for developmental outcome...
  44. ncbi request reprint Mutation analysis of Indian patients with urea cycle defects
    Neerja Gupta
    Genetic Unit, Department of Pediatrics, AIIMS, New Delhi 110 029, India
    Indian Pediatr 49:585-6. 2012
    ..We report four cases of urea cycle defect where mutational analysis of the involved genes was performed and subsequently, prenatal diagnosis could be offered to one of the family...
  45. ncbi request reprint Congenital thrombotic thrombocytopenic purpura associated with moyamoya syndrome in a 3-year-old girl: a case report
    Puneet Jain
    Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India
    J Child Neurol 27:1331-5. 2012
    ..Unexplained thrombocytopenia, especially in the presence of neurologic symptoms, should prompt an evaluation for ADAMTS13deficiency. The diagnosis has significant implications not only for therapy but also for genetic counseling...
  46. doi request reprint Seizure control and biochemical profile on the ketogenic diet in young children with refractory epilepsy--Indian experience
    Suvasini Sharma
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Seizure 18:446-9. 2009
    ..This study evaluated the efficacy and tolerability of the ketogenic diet (KD) in young Indian children with refractory epilepsy. The changes in biochemical and lipid profile with KD were also assessed...
  47. doi request reprint Inflicted neuro-trauma in infancy
    Bipin Jose
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110 029, India
    Indian J Pediatr 77:318-20. 2010
    ..We highlight the importance of suspecting child abuse in infants with sudden unexplained unresponsiveness, seizures or respiratory difficulty and the unusual occurrence of extradural hemorrhage...
  48. ncbi request reprint Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings
    Kamaldeep Arora
    Division of Neonatology, Department of Pediatrics, All India Institute of Medical Sciences AIIMS, Ansari Nagar, New Delhi, 110029, India
    Indian J Pediatr 81:614-6. 2014
    ..This is the first published report from India describing a case of FS with familial recurrence, which would serve further to illustrate the clinical variability of this disorder. ..
  49. ncbi request reprint Leukodystrophy presenting as acute-onset polyradiculoneuropathy
    Rachana Dubey
    Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Pediatr Neurol 50:616-8. 2014
    ..Late infantile form, the commonest subtype, can exhibit peripheral neuropathy as the initial manifestation. The other two forms usually manifest peripheral neuropathy later in the disease course...
  50. ncbi request reprint National newborn screening program still a hype or a hope now?
    Seema Kapoor
    Department of Genetics and Metabolism, MAMC, Associated Lok Nayak Hospital, New Delhi, India
    Indian Pediatr 50:639-43. 2013
    ..The current strengths, the major obstacles and gritty challenges are enlisted. No moment could be so opportune than this year to discuss the rainbow of hope with all its colors with respect to newborn screening in our country. ..
  51. doi request reprint Increase in iodine deficiency disorder due to inadequate sustainability of supply of iodized salt in District Solan, Himachal Pradesh
    Umesh Kapil
    Department of Human Nutrition, All India Institute of Medical Sciences, New Delhi, India, Department of Biostatistics, All India Institute of Medical Sciences, New Delhi, India, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    J Trop Pediatr 59:514-5. 2013
    ..The total goiter rate was found to be 15.4%. Median urinary iodine excretion level was 62.5 μg/l. Only 39% of the salt samples had iodine content of ≥15 ppm. Mild iodine deficiency was present in the subjects studied. ..
  52. doi request reprint Limb/pelvis-hypoplasia/aplasia syndrome--further delineation of phenotype
    Neerja Gupta
    Department of Pediatrics, All India Institute of Medical Sciences AIIMS, New Delhi, India
    Fetal Pediatr Pathol 30:355-8. 2011
    ..We report a case of Al-Awadi/Raas-Rothschild syndrome, an autosomal recessive disorder manifesting at an early gestation as hydrops as a result of congenital high airway obstruction...
  53. doi request reprint Acute management of sick infants with suspected inborn errors of metabolism
    Neerja Gupta
    Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India
    Indian J Pediatr 78:854-9. 2011
    ..Initial screening investigations may give clues and help to classify these disorders in broad categories. It is of utmost importance to preserve samples for testing...
  54. pmc Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India
    Ashutosh Halder
    Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
    BMC Med Genet 11:101. 2010
    ..Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion...
  55. doi request reprint Intravenous fluid regimen and hyponatraemia among children: a randomized controlled trial
    Lakshminarayanan Kannan
    Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India
    Pediatr Nephrol 25:2303-9. 2010
    ..8% of those in Group C. Based on these results, we conclude that the administration of 0.9% saline in 5% dextrose as i.v. maintenance fluid helps in reducing the incidence of hospital-acquired hyponatraemia among children...
  56. doi request reprint Carbimazole embryopathy-bilateral choanal atresia and patent vitello-intestinal duct: a case report and review of literature
    Lakshminarayanan Kannan
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Birth Defects Res A Clin Mol Teratol 82:649-51. 2008
    ..In utero exposure to carbimazole for maternal hyperthyroidism has been reported to cause choanal atresia. There are case reports of patent vitello-intestinal duct and Meckel's diverticulum in similar association...
  57. ncbi request reprint Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario
    Manjula Maheshwari
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Am J Med Genet A 120:180-4. 2003
    ..We suggest that W24X is a common allele among the mutations screened, causing autosomal recessive non-syndromic hearing impairment (ARNSHI) in the Indian population...
  58. ncbi request reprint Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis
    Silky Jain
    Departments of Pediatrics and Radio diagnosis, Maulana Azad Medical College, and Department of Pediatrics, All India Institute of Medical Sciences New Delhi, India Correspondence to Dr Seema Kapoor, Professor, Department of Pediatrics, Maulana Azad Medical College, New Delhi 110 002, India
    Indian Pediatr 50:1125-30. 2013
    ..To study the clinico-etiological profile of children with intellectual disability using an algorithmic approach...
  59. ncbi request reprint Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family
    Neerja Gupta
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Prenat Diagn 27:117-8. 2007
    ..To provide prenatal diagnosis of pyruvate kinase deficiency by direct DNA analysis in an Indian family...
  60. pmc Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
    Ashutosh Halder
    Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India
    Mol Cytogenet 1:18. 2008
    ..2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome...
  61. ncbi request reprint Association of polymorphism in the thermolabile 5, 10-methylene tetrahydrofolate reductase gene and hyperhomocysteinemia with coronary artery disease
    Mohammad A Alam
    Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India
    Mol Cell Biochem 310:111-7. 2008
    ....
  62. ncbi request reprint Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India
    Shivaram S Shastri
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India
    J Cyst Fibros 7:110-5. 2008
    ..Very little is known about the genetics of cystic fibrosis (CF) from the Indian subcontinent. The aims of the study were to identify the mutations and study the relation of genotype with phenotype in Indian children with CF...
  63. ncbi request reprint Approach to inborn errors of metabolism presenting in the neonate
    Suvasini Sharma
    Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
    Indian J Pediatr 75:271-6. 2008
    ..Diagnosis is important not only for treatment but also for genetic counselling. Guidelines for diagnosis and early management of IEM presenting in the neonatal period are described...
  64. ncbi request reprint Central diabetes insipidus: clinical profile and factors indicating organic etiology in children
    Anurag Bajpai
    Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian Pediatr 45:463-8. 2008
    ..To evaluate the profile of children with central diabetes insipidus (DI) and identify factors indicating organic etiology...
  65. ncbi request reprint Recent advances in approach to treatment of genetic disorders: clinicians perspective
    Neerja Gupta
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
    Indian Pediatr 44:361-9. 2007
    ..The aim of this article is to make the pediatricians aware of the approaches to treatment of common genetic disorders and recent available therapeutic interventions...
  66. ncbi request reprint Maffucci syndrome
    Neerja Gupta
    Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
    Indian Pediatr 44:149-50. 2007
  67. ncbi request reprint Detection of fetomaternal hemorrhage following chorionic villus sampling by Kleihauer Betke test and rise in maternal serum alpha feto protein
    Richa Katiyar
    All India Institute of Medical Sciences, Gynaecology and Obstetrics, India
    Prenat Diagn 27:139-42. 2007
    ..To assess incidence and volume of fetomaternal hemorrhage (FMH) after chorionic villus sampling (CVS) by Kleihauer Betke test (KBT) and rise in maternal protein (MSAFP)...
  68. ncbi request reprint Pyle metaphyseal dysplasia
    Neerja Gupta
    Genetic Subdivision, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
    Indian Pediatr 45:323-5. 2008
    ..He had mild facial dysmorphism, genu valgum and wasting of legs. Skeletal radiology revealed the characteristic Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses along with platyspondyly...
  69. doi request reprint Familial progressive hypermelanosis in Indian monozygotic twins
    Neerja Gupta
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Pediatr Dermatol 28:62-5. 2011
    ..Although hereditary defects may influence melanogenesis resulting in a pigmentary anomaly, the pathogenesis of hyperpigmentation in this case remains unclear...
  70. doi request reprint Long-term daily high and low doses of azithromycin in children with cystic fibrosis: a randomized controlled trial
    S K Kabra
    Department of Pediatrics and Microbiology, All India Institute of Medical Sciences, New Delhi 110029, India
    J Cyst Fibros 9:17-23. 2010
    ..Long-term administration of azithromycin (AZM) in children with cystic fibrosis (CF) has improved outcomes. However, the doses and schedule of administration are not very well studied in children with CF...
  71. ncbi request reprint Detection of 22 q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH 22 syndrome
    Ashutosh Halder
    Department of Reproductive Biology, Pediatrics and Cardiology, All India Institute of Medical Sciences, New Delhi 110 029, India
    Indian Pediatr 42:1236-9. 2005
    ..2 deletion. Interphase FISH with 22q 11.2 probe demonstrated hemizygous deletion in 98.5% nuclei. Interphase FISH for diagnosis of CATCH 22 syndrome has not been reported previously from India to our knowledge...
  72. ncbi request reprint Genetics of deafness in India
    Manju Ghosh
    Genetics Unit, Department of Pediatrics, All India, Institute of Medical Sciences, New Delhi, India
    Indian J Pediatr 71:531-3. 2004
    ..This indicates there are several more to be identified yet. Knowledge of the genetic cause of deafness in our families is important for accurate genetic counseling and early diagnosis for timely intervention and treatment options...
  73. ncbi request reprint Serum leptin levels in obese Indian children relation to clinical and biochemical parameters
    Sudhisha Dubey
    Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
    Indian Pediatr 44:257-62. 2007
    ..To evaluate serum leptin levels in obese Indian children and its correlation to anthropometric and biochemical parameters...
  74. ncbi request reprint Griscelli syndrome
    Amit Kumar Malhotra
    Department of Dermatology and Venereology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi
    J Am Acad Dermatol 55:337-40. 2006
    ..On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease...
  75. ncbi request reprint Vitamin A responsive night blindness in Dent's disease
    Sidharth Kumar Sethi
    Department of Pediatrics, Division of Pediatric Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
    Pediatr Nephrol 24:1765-70. 2009
    ..All these patients were found to have novel mutations in the CLCN5 gene...
  76. ncbi request reprint Schinzel acrocallosal syndrome
    Sheffali Gulati
    Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian J Pediatr 70:173-6. 2003
    ..It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome...
  77. ncbi request reprint Rapid prenatal karyotyping using foetal blood obtained by cordocentesis
    Roli Mathur
    Department of Paediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi
    Natl Med J India 15:75-7. 2002
    ..Prenatal karyotyping using foetal blood samples obtained by cordocentesis is a useful method of detecting abnormal chromosomes in the foetus...
  78. ncbi request reprint Hydroxyurea in thalassemia intermedia--a promising therapy
    Ashish Dixit
    Department of Haematology, All India Institute of Medical Sciences, New Delhi, India
    Ann Hematol 84:441-6. 2005
    ..Response was evident within 1 month of starting HU therapy in the majority of responders. Thus, a short trial of HU therapy can predict durable response...
  79. ncbi request reprint 21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children
    Anurag Bajpai
    Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
    Indian Pediatr 41:1226-32. 2004
    ..Our study reiterates the need for early recognition and management of 21-hydroxylase deficiency in children in countries where neonatal screening programs are not feasible...
  80. pmc Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
    Saima Riazuddin
    Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health NIH, Rockville, MD 20850, USA
    Am J Hum Genet 78:137-43. 2006
    ..Genetic heterogeneity at this locus is suggested by three additional families that show significant evidence of linkage of deafness to markers on chromosome 22q13 but that apparently have no mutations in the TRIOBP gene...
  81. ncbi request reprint Cystic fibrosis in India
    S K Kabra
    Natl Med J India 16:291-3. 2003
  82. ncbi request reprint Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia
    Sue Hall
    King s College London, Institute of Psychiatry, Department of Psychology at Guy s, Health Psychology Section, London, UK
    Eur J Hum Genet 15:563-9. 2007
    ..This variation may reflect cultural differences in attitudes to informed choice or a failure to facilitate informed choice in practice. More detailed studies are needed to explore this further...
  83. ncbi request reprint Recurrent pulmonary thromboembolism in a patient with heterozygous beta-thalassemia with Hb E state: a rare complication
    Sunil Gupta
    Am J Hematol 74:85. 2003
  84. ncbi request reprint Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene
    Anubha Mahajan
    Functional Genomics Unit, Institute of Genomics and Integrative Biology, CSIR, Delhi, India
    Haematologica 89:1498-503. 2004
    ..A wide range of mutations, showing large molecular heterogeneity, has been described in hemophilia B patients. Our study was aimed at characterizing mutations in the factor IX gene in a cohort of North Indian hemophilia B patients...
  85. ncbi request reprint Behavioral problems in children with Down syndrome
    M S Bhatia
    Department of Psychiatry, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi 110 095, India
    Indian Pediatr 42:675-80. 2005
    ..There is higher prevalence of psychiatric disorders in children with Down's syndrome and their siblings...
  86. ncbi request reprint Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online
    Anubha Mahajan
    Functional Genomics Unit, Institute of Genomics and Integrative Biology, CSIR, Delhi, India
    Hum Mutat 28:526. 2007
    ..We also analyzed the distribution of Ala194Thr polymorphism in 1231 Asian Indians and have established that Ala variant is far more frequent and can certainly be exploited for carrier detection, contrary to earlier reports...
  87. doi request reprint Informed choice to undergo prenatal screening for thalassemia: a description of written information given to pregnant women in Europe and beyond
    Ananda Van den Heuvel
    King s College London, Institute of Psychiatry, Department of Psychology at Guy s, Health Psychology Section, London, UK
    Prenat Diagn 28:727-34. 2008
    ..To investigate whether prenatal screening for thalassemia is presented as a choice, and how the condition is described in written information given to pregnant women in different countries...
  88. doi request reprint Production of dysplastic platelets by peripheral blood megakaryoblasts in transient myeloproliferative disorder in Down syndrome
    Anita Chopra
    Platelets 19:160-1. 2008
  89. doi request reprint Prenatal diagnosis of megalencephalic leukodystrophy
    Pallavi Shukla
    Prenat Diagn 28:357-9. 2008