Scott E Hickey

Summary

Affiliation: Nationwide Children's Hospital
Country: USA

Publications

  1. doi request reprint A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation
    Scott E Hickey
    Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children s Hospital, 700 Children s Drive, Columbus, OH 43205, USA Electronic address
    Eur J Med Genet 56:510-4. 2013
  2. doi request reprint Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
    Scott E Hickey
    Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children s Hospital, 700 Children s Drive, Columbus, OH 43205, USA Electronic address
    Eur J Med Genet 56:521-5. 2013
  3. doi request reprint ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
    Scott E Hickey
    Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA
    Genet Med 15:153-6. 2013
  4. ncbi request reprint Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia
    Lauren C Walters-Sen
    Department of Pathology and Laboratory Medicine, Nationwide Children s Hospital, Columbus, OH, USA
    Eur J Med Genet 57:315-8. 2014
  5. doi request reprint Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
    Scott E Hickey
    Section of Human and Molecular Genetics, Nationwide Children s Hospital, Columbus, Ohio, USA
    Am J Med Genet A 161:2294-9. 2013

Collaborators

Detail Information

Publications5

  1. doi request reprint A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation
    Scott E Hickey
    Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children s Hospital, 700 Children s Drive, Columbus, OH 43205, USA Electronic address
    Eur J Med Genet 56:510-4. 2013
    ..The patient has hypotonia, failure to thrive, and typical dysmorphic facial features for PWS. The patient also has profound global developmental delay consistent with an expanded, more severe, phenotype...
  2. doi request reprint Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion
    Scott E Hickey
    Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children s Hospital, 700 Children s Drive, Columbus, OH 43205, USA Electronic address
    Eur J Med Genet 56:521-5. 2013
    ..This family represents a rare report of an inherited interstitial deletion of the long arm of chromosome 4. To our knowledge, only two cases have been previously reported. The contribution of candidate genes in the region is discussed...
  3. doi request reprint ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing
    Scott E Hickey
    Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA
    Genet Med 15:153-6. 2013
    ..There is growing evidence that MTHFR polymorphism testing has minimal clinical utility and, therefore should not be ordered as a part of a routine evaluation for thrombophilia...
  4. ncbi request reprint Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia
    Lauren C Walters-Sen
    Department of Pathology and Laboratory Medicine, Nationwide Children s Hospital, Columbus, OH, USA
    Eur J Med Genet 57:315-8. 2014
    ..In addition, the comorbidity of acampomelia, complete sex reversal, and severe spinal anomalies in our patient underscores the variability in the level of malformation in the CD/ACD family of disorders. ..
  5. doi request reprint Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
    Scott E Hickey
    Section of Human and Molecular Genetics, Nationwide Children s Hospital, Columbus, Ohio, USA
    Am J Med Genet A 161:2294-9. 2013
    ..3-q28 region. In the future, when more cases of the duplication are identified, it may become possible to more accurately determine the specific genes affected by overexpression and responsible for the phenotype...