Derek E Neilson

Summary

Affiliation: Cincinnati Children's Hospital Medical Center
Country: USA

Publications

  1. ncbi Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2
    Derek E Neilson
    Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USA
    Am J Hum Genet 84:44-51. 2009
  2. ncbi The interplay of infection and genetics in acute necrotizing encephalopathy
    Derek E Neilson
    Division of Human Genetics, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229, USA
    Curr Opin Pediatr 22:751-7. 2010
  3. ncbi Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13
    Derek E Neilson
    Department of Pediatrics, Case Western Reserve University School of Medicine and Rainbow Babies and Children s Hospital, Cleveland, OH 44106, USA
    Ann Neurol 55:291-4. 2004
  4. ncbi Cohen syndrome in the Ohio Amish
    Marni J Falk
    Department of Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA
    Am J Med Genet A 128:23-8. 2004
  5. ncbi Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features
    Kosuke Izumi
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
    Am J Med Genet A 155:1384-9. 2011
  6. ncbi Mixed clefting type in Rapp-Hodgkin syndrome
    Derek E Neilson
    The Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospital of Cleveland, Cleveland, Ohio, USA
    Am J Med Genet 108:281-4. 2002

Detail Information

Publications6

  1. ncbi Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2
    Derek E Neilson
    Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals Case Medical Center, Cleveland, OH 44106, USA
    Am J Hum Genet 84:44-51. 2009
    ..None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE...
  2. ncbi The interplay of infection and genetics in acute necrotizing encephalopathy
    Derek E Neilson
    Division of Human Genetics, Department of Pediatrics, Cincinnati Children s Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229, USA
    Curr Opin Pediatr 22:751-7. 2010
    ..This review summarizes recent advances of clinical and scientific understanding of ANE...
  3. ncbi Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13
    Derek E Neilson
    Department of Pediatrics, Case Western Reserve University School of Medicine and Rainbow Babies and Children s Hospital, Cleveland, OH 44106, USA
    Ann Neurol 55:291-4. 2004
    ..Sequencing of four candidate genes in the interval (BCL2L11, ST6GalII, CHT1, and FLJ20019), involved in apoptosis, viral recognition, choline transport, and electron transport, showed no disease causing mutations...
  4. ncbi Cohen syndrome in the Ohio Amish
    Marni J Falk
    Department of Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA
    Am J Med Genet A 128:23-8. 2004
    ....
  5. ncbi Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features
    Kosuke Izumi
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
    Am J Med Genet A 155:1384-9. 2011
    ..The current report provides evidence to support a specific phenotype associated with a 9q22.3 microduplication and confirm localization of a subset of the trisomy 9q phenotype to this chromosomal region...
  6. ncbi Mixed clefting type in Rapp-Hodgkin syndrome
    Derek E Neilson
    The Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospital of Cleveland, Cleveland, Ohio, USA
    Am J Med Genet 108:281-4. 2002
    ..Therefore, while VDW and PPS have little clinical overlap with the EDCS, the common finding of MCT may indicate closer relationships at the developmental or genetic level...