Derek E Neilson
Affiliation: Cincinnati Children's Hospital Medical Center
- Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2Derek 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...
- The interplay of infection and genetics in acute necrotizing encephalopathyDerek 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...
- Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q13Derek 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...
- Cohen syndrome in the Ohio AmishMarni 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....
- Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic featuresKosuke 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...
- Mixed clefting type in Rapp-Hodgkin syndromeDerek 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...