Douglas R Stewart
Affiliation: National Institutes of Health
- Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumorsDouglas R Stewart
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD 20852, USA
Genes Chromosomes Cancer 51:429-37. 2012....
- Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1Douglas R Stewart
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A62, Bethesda, MD 20892, USA
J Med Genet 47:525-32. 2010..Glomus tumours of the fingers and toes are associated with the monogenic disorder neurofibromatosis type 1 (NF1) and are recently recognised as part of the NF1 phenotype...
- Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?Douglas R Stewart
National Human Genome Research Institute, National Institutes of Health, 49 Convent Dr, Building 49, Room 4A62, Bethesda, MD 20892, USA
Chest 132:798-808. 2007..Pulmonary arterial hypertension (PAH) in patients with NF1 is hypothesized to be secondary to an underlying vasculopathy...
- The chromosome 9q subtelomere deletion syndromeDouglas R Stewart
National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Bldg 49, Room 4A62, Bethesda, MD 20892, USA
Am J Med Genet C Semin Med Genet 145:383-92. 2007..EHMT1 is another example in the growing list of genes responsible for brain development that appear to play a role in chromatin remodeling. Published 2007 Wiley-Liss, Inc...
- Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorderDouglas R Stewart
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA
Genet Med 16:448-59. 2014..We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of neurofibromatosis type 1...
- Oral ketamine in the palliative care setting: a review of the literature and case report of a patient with neurofibromatosis type 1 and glomus tumor-associated complex regional pain syndromeEliezer Soto
Pain and Palliative Care Service, National Institutes of Health Clinical Center, Bethesda, MD 20892, USA
Am J Hosp Palliat Care 29:308-17. 2012..However, patients in the palliative care and hospice setting, especially the one at the end of their lives, may also benefit from oral ketamine even if an intravenous trial is not feasible...
- Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersDouglas R Stewart
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, United States of America
PLoS ONE 9:e98686. 2014..As a clinical entity, Dubowitz syndrome will need continual re-evaluation and re-definition as its constituent phenotypes are determined...
- Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiencyAlexander Pemov
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
BMC Genomics 11:194. 2010....
- Subtelomeric deletions of chromosome 9q: a novel microdeletion syndromeDouglas R Stewart
Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 128:340-51. 2004..2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval...
- Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1Douglas R Stewart
J Med Genet 44:e61. 2007..Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours that commonly harbour oncogenic mutations in KIT or PDGFRA and are thought to arise from the interstitial cells of Cajal (ICC; the pacemaker cells of the gut)...