Chitra Prasad

Summary

Affiliation: University of Manitoba
Country: Canada

Publications

  1. ncbi request reprint Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype
    C Prasad
    Section of Genetics and Metabolism, University of Manitoba, Winnipeg, Canada
    Clin Genet 57:103-9. 2000
  2. ncbi request reprint Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia
    C Prasad
    Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada
    Clin Genet 58:390-5. 2000
  3. ncbi request reprint Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program
    C Prasad
    Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada R3A 1S1
    Mol Genet Metab 73:55-63. 2001
  4. ncbi request reprint Genetics and cardiac anomalies: the heart of the matter
    Chitra Prasad
    Department of Pediatrics, Children s Hospital, Winnipeg, Canada
    Indian J Pediatr 69:321-32. 2002
  5. doi request reprint Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings
    Chitra Prasad
    Department of Paediatrics, Children s Hospital, London Health Sciences Centre, Western University, London, ON, Canada
    Mol Genet Metab 108:190-4. 2013
  6. doi request reprint Menkes disease and infantile epilepsy
    Asuri N Prasad
    Department of Pediatrics, University of Western Ontario, London, Ontario, Canada
    Brain Dev 33:866-76. 2011
  7. ncbi request reprint The floppy infant: contribution of genetic and metabolic disorders
    Asuri N Prasad
    Section of Pediatric Neurosciences, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Manitoba, Canada
    Brain Dev 25:457-76. 2003
  8. doi request reprint Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy
    Asuri N Prasad
    Department of Pediatrics, University of Western Ontario, London, Canada
    Brain Dev 33:758-69. 2011
  9. ncbi request reprint Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment
    Rochelle A Yanofsky
    Section of Pediatric Hematology Oncology, Department of Pediatrics and Child Health, University of Manitoba and Health Sciences Centre, Winnipeg, MB, Canada
    Can J Neurol Sci 36:462-7. 2009
  10. doi request reprint Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study
    Simone S Vaz
    Department of Pediatrics, William Osler Health System, Brampton, Ontario, Canada
    Am J Med Genet A 158:751-8. 2012

Collaborators

Detail Information

Publications22

  1. ncbi request reprint Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype
    C Prasad
    Section of Genetics and Metabolism, University of Manitoba, Winnipeg, Canada
    Clin Genet 57:103-9. 2000
    ....
  2. ncbi request reprint Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia
    C Prasad
    Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada
    Clin Genet 58:390-5. 2000
    ..The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient features of documented cases of kyphomelic dysplasia are presented...
  3. ncbi request reprint Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program
    C Prasad
    Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada R3A 1S1
    Mol Genet Metab 73:55-63. 2001
    ..We believe our newborn screening program for CPT1 A deficiency in the Hutterite community will serve as a prototype model for delivery of targeted genetic services to other similar unique genetic isolates...
  4. ncbi request reprint Genetics and cardiac anomalies: the heart of the matter
    Chitra Prasad
    Department of Pediatrics, Children s Hospital, Winnipeg, Canada
    Indian J Pediatr 69:321-32. 2002
    ..Detection of cardiac anomalies during antenatal period warrants a genetics assessment...
  5. doi request reprint Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings
    Chitra Prasad
    Department of Paediatrics, Children s Hospital, London Health Sciences Centre, Western University, London, ON, Canada
    Mol Genet Metab 108:190-4. 2013
    ..The absence of features of an epileptic encephalopathy appears to be of added interest...
  6. doi request reprint Menkes disease and infantile epilepsy
    Asuri N Prasad
    Department of Pediatrics, University of Western Ontario, London, Ontario, Canada
    Brain Dev 33:866-76. 2011
    ..Epilepsy is a major clinical feature of this disorder. We describe the clinical presentation, evolution of epilepsy and explore the biological underpinnings of epileptogenesis in Menkes disease...
  7. ncbi request reprint The floppy infant: contribution of genetic and metabolic disorders
    Asuri N Prasad
    Section of Pediatric Neurosciences, Department of Pediatrics and Child Health, Faculty of Medicine, University of Manitoba, Manitoba, Canada
    Brain Dev 25:457-76. 2003
    ..An algorithm for the systematic evaluation of infants with hypotonia is suggested for the practicing pediatrician/neonatologist...
  8. doi request reprint Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy
    Asuri N Prasad
    Department of Pediatrics, University of Western Ontario, London, Canada
    Brain Dev 33:758-69. 2011
    ..We describe the association of severe MTHFR deficiency and neurological manifestations with particular attention to neurodevelopment and evolution of epileptic seizures...
  9. ncbi request reprint Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment
    Rochelle A Yanofsky
    Section of Pediatric Hematology Oncology, Department of Pediatrics and Child Health, University of Manitoba and Health Sciences Centre, Winnipeg, MB, Canada
    Can J Neurol Sci 36:462-7. 2009
    ....
  10. doi request reprint Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study
    Simone S Vaz
    Department of Pediatrics, William Osler Health System, Brampton, Ontario, Canada
    Am J Med Genet A 158:751-8. 2012
    ..The use of periconceptional folic acid or vitamins was not associated with a lower risk of nonsyndromic HPE...
  11. doi request reprint Pyruvate dehydrogenase deficiency and epilepsy
    Chitra Prasad
    Department of Pediatrics, University of Western Ontario, London, Ontario, Canada
    Brain Dev 33:856-65. 2011
    ..Research is in progress for looking into animal models to better understand pathogenesis and management of this challenging disorder...
  12. doi request reprint Amish microcephaly: Long-term survival and biochemical characterization
    Victoria Mok Siu
    Department of Pediatrics, University of Western Ontario, London, Ontario, Canada
    Am J Med Genet A 152:1747-51. 2010
    ..The diagnosis should be considered in patients with severe congenital microcephaly, especially in association with lissencephaly, dysgenesis of the corpus callosum, or a spinal dysraphic state...
  13. pmc CHARGE syndrome
    Kim D Blake
    Department of Pediatrics, IWK Health Centre, Dalhousie University, Canada
    Orphanet J Rare Dis 1:34. 2006
    ..As the child develops, challenging behaviors become more common and require adaptation of educational and therapeutic services, including behavioral and pharmacological interventions...
  14. ncbi request reprint Congenital indifference to pain and deletion of chromosome 10q-: new association
    Charuta Joshi
    Department of Pediatrics, University of Manitoba, Winnipeg, Canada
    J Child Neurol 21:174-7. 2006
    ..Relative indifference to pain defined by a lack of emotional response to pain has not been described previously in association with the terminal deletion of the long arm of chromosome 10...
  15. ncbi request reprint Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder
    Ajay P Sharma
    Department of Pediatrics, University of Western Ontario, London, ON, Canada
    Pediatr Nephrol 22:2097-103. 2007
    ..271 dupA) in the cblC MMACHC gene. We briefly review the published experience in cblC-associated HUS to highlight the clinical characteristics of this uncommon, but potentially treatable, condition...
  16. ncbi request reprint The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility
    Kirandeep Birdi
    Section of Pediatric Neurosciences, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada
    J Child Neurol 20:803-8. 2005
    ..Systematic evaluation of a floppy infant followed by careful selection of investigations (karyotype, DNA-based diagnostic tests, and cranial imaging) can maximize diagnostic yield...
  17. ncbi request reprint Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype
    Chitra Prasad
    Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada
    Am J Med Genet 108:64-8. 2002
    ..Since the other mutation in this patient is a known null mutation, this newly discovered mutation is presumably associated with significant residual enzyme activity and milder expression of clinical phenotype...
  18. ncbi request reprint An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
    Karina A Issekutz
    Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 133:309-17. 2005
    ....
  19. ncbi request reprint CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years
    Lisa C Searle
    Medical Student, Dalhousie University, Nova Scotia, Canada
    Am J Med Genet A 133:344-9. 2005
    ..At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density...
  20. ncbi request reprint Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation
    Inessa Grinberg
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Nat Genet 36:1053-5. 2004
    ..Mice with a heterozygous deletion of these two linked genes have a phenotype that closely resembles DWM, providing a mouse model for this malformation...
  21. pmc Smith-Magenis syndrome
    Chitra Prasad
    CMAJ 169:543, 545; author reply 545. 2003
  22. ncbi request reprint Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases
    Duangrurdee Wattanasirichaigoon
    Division of Medical Genetics, Department of Pediatrics, Ramathibodi Hospital, Bangkok, Thailand
    Am J Med Genet A 122:63-9. 2003
    ..Both the occurrence and type of rib anomaly were helpful in defining certain syndromes and enhanced the likelihood of identifying related malformations...