Shailly Jain

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. pmc Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
    Shailly Jain-Ghai
    Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G1X8
    Mol Genet Metab 104:107-11. 2011
  2. doi A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype
    Shailly Jain
    Division of Clinical Genetics and Metabolics, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, Canada M5G 1X8
    Eur J Med Genet 53:108-10. 2010
  3. doi Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6
    Shailly Jain Ghai
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada
    Eur J Med Genet 54:272-6. 2011

Collaborators

  • Grace Yoon
  • Annette Feigenbaum
  • Shailly Jain-Ghai
  • Shailly Jain Ghai
  • Komudi Siriwardena
  • Sandesh C Sreenath Nagamani
  • Susan Blaser
  • Mary Shago
  • Manohar Shroff

Detail Information

Publications3

  1. pmc Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?
    Shailly Jain-Ghai
    Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G1X8
    Mol Genet Metab 104:107-11. 2011
    ..The index case demonstrated many of these. The cases reviewed here suggest a genotype/phenotype correlation and advocate for the addition of arginine as a primary target in newborn screening programs...
  2. doi A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype
    Shailly Jain
    Division of Clinical Genetics and Metabolics, Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, Canada M5G 1X8
    Eur J Med Genet 53:108-10. 2010
    ..6 Mb deletion of 8q22.1. The deletion has significant chromosomal overlap with previously reported examples of NMLFS, but our patient lacks the clinical features noted in the published cases...
  3. doi Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6
    Shailly Jain Ghai
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada
    Eur J Med Genet 54:272-6. 2011
    ..We report a patient with a clinical phenotype of severe infantile CS who has a paternally inherited 5 Mb deletion of 10q11.2 resulting in loss of one allele and a previously unreported frameshift mutation of ERCC6 on the maternal allele...