V Shashi

Summary

Affiliation: Wake Forest University School of Medicine
Country: USA

Publications

  1. ncbi request reprint Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Neuroimage 21:1399-406. 2004
  2. ncbi request reprint Ring chromosome 17: phenotype variation by deletion size
    V Shashi
    Department of Pediatrics Medical Genetics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Clin Genet 64:361-5. 2003
  3. ncbi request reprint Vasomotor instability in neonates with chromosome 22q11 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Am J Med Genet A 121:231-4. 2003
  4. ncbi request reprint Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome
    V Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Clin Genet 69:234-8. 2006
  5. ncbi request reprint A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome
    Vandana Shashi
    Department of Pediatrics, Sections on Medical Genetics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Am J Med Genet 108:205-8. 2002
  6. ncbi request reprint Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects
    V Shashi
    Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27023, USA
    Am J Med Genet 100:25-9. 2001
  7. pmc A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27
    V Shashi
    Section on Medical Genetics, Department of Pediatrics, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157, USA
    Am J Hum Genet 66:469-79. 2000
  8. pmc Genetic heterogeneity of gingival fibromatosis on chromosome 2p
    V Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    J Med Genet 36:683-6. 1999
  9. ncbi request reprint Prenatal diagnosis of complete sole trisomy 1q
    M J Pettenati
    Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA
    Prenat Diagn 21:435-40. 2001
  10. ncbi request reprint Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22
    T C Hart
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Genomics 56:233-5. 1999

Research Grants

Collaborators

Detail Information

Publications15

  1. ncbi request reprint Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Neuroimage 21:1399-406. 2004
    ..Further longitudinal studies on these children will help determine which of these structural abnormalities is/are pertinent to the development of psychosis...
  2. ncbi request reprint Ring chromosome 17: phenotype variation by deletion size
    V Shashi
    Department of Pediatrics Medical Genetics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Clin Genet 64:361-5. 2003
    ..This classification of ring 17 into two distinct groups based on the size of the deletion and the phenotypic manifestations should facilitate clinical suspicion of this rare chromosomal abnormality...
  3. ncbi request reprint Vasomotor instability in neonates with chromosome 22q11 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Am J Med Genet A 121:231-4. 2003
    ..This could have implications for the surgical management of patients with 22q11DS. Further studies on this topic would establish or refute the association between 22q11DS and dysautonomia...
  4. ncbi request reprint Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome
    V Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
    Clin Genet 69:234-8. 2006
    ..These results confirm that the hemizygous COMT Val(158)Met genotype impacts upon cognition in children with 22q11DS...
  5. ncbi request reprint A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome
    Vandana Shashi
    Department of Pediatrics, Sections on Medical Genetics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Am J Med Genet 108:205-8. 2002
    ..Patients who are judged by PE and ECG to have CHD will need echocardiographic confirmation...
  6. ncbi request reprint Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects
    V Shashi
    Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27023, USA
    Am J Med Genet 100:25-9. 2001
    ..A simple intervention in the form of folic acid supplementation would be protective, should an association be established...
  7. pmc A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27
    V Shashi
    Section on Medical Genetics, Department of Pediatrics, Wake Forest University School of Medicine, Medical Center Boulevard, Winston Salem, NC 27157, USA
    Am J Hum Genet 66:469-79. 2000
    ..Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family...
  8. pmc Genetic heterogeneity of gingival fibromatosis on chromosome 2p
    V Shashi
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    J Med Genet 36:683-6. 1999
    ..Thus, our results support the presence of two different gene loci on chromosome 2p that are involved in GF...
  9. ncbi request reprint Prenatal diagnosis of complete sole trisomy 1q
    M J Pettenati
    Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA
    Prenat Diagn 21:435-40. 2001
    ..Of note is the fact that 3/5 prenatally detected 1q trisomies have teratomas. A review of the literature reveals a dismal outcome for trisomy 1q cases if the duplication involves bands 1q25-->q32...
  10. ncbi request reprint Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22
    T C Hart
    Department of Pediatrics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Genomics 56:233-5. 1999
  11. ncbi request reprint Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome
    Kathryn Eve Lewandowski
    Department of Psychology, University of North Carolina at Greensboro, Greensboro, North Carolina 27401, USA
    Am J Med Genet B Neuropsychiatr Genet 144:27-36. 2007
    ....
  12. ncbi request reprint Vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group study
    Allen R Chauvenet
    Department of Pediatrics, Wake Forest University, Winston Salem, North Carolina 27157 1081, USA
    J Pediatr Hematol Oncol 25:316-20. 2003
    ..The goal was to provide preliminary information about patients with undiagnosed CMT who develop ALL...
  13. ncbi request reprint Ectodermal dysplasia: otolaryngologic manifestations and management
    Elena Daniel
    Department of Otolaryngology, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA
    Laryngoscope 112:962-7. 2002
    ..To present the otolaryngologic manifestations and management of 12 patients with the rare presentation of ectodermal dysplasia...
  14. ncbi request reprint Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
    Elke M Botzenhart
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 28:204-5. 2007
    ..The latter is associated with anal, ear, hand, and renal manifestations, indicating that the glutamine-rich domain is not required for typical TBS...
  15. ncbi request reprint Mosaicism for an FMR1 gene deletion in a fragile X female
    Hongxin Fan
    Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, 27599, USA
    Am J Med Genet A 136:214-7. 2005
    ..Mosaicism of this type is rare in females with a fragile X mutation but should be kept in mind in the interpretation of Southern blots...

Research Grants4

  1. Schizophrenia Predisposition in 22q11 Deletion Syndrome
    Vandana Shashi; Fiscal Year: 2005
    ..abstract_text> ..
  2. Risk Factors for Psychosis in Chromosome 22q11 Deletion Syndrome
    Vandana Shashi; Fiscal Year: 2007
    ..2 region in children with 22q11 DS, a genetic condition with a high risk of schizophrenia, to understand the factors that play a role in this severe mental illness. ..