Douglas R Stewart

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder
    Douglas R Stewart
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA
    Hum Genet 133:1443-50. 2014
  2. pmc Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors
    Douglas 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
  3. ncbi request reprint 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
  4. ncbi request reprint The chromosome 9q subtelomere deletion syndrome
    Douglas 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
  5. pmc Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1
    Douglas 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
  6. pmc Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis
    Alexander Pemov
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America
    PLoS Genet 10:e1004575. 2014
  7. doi request reprint Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder
    Douglas 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
  8. pmc 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 syndrome
    Eliezer 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
  9. pmc Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
    Douglas 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
  10. pmc Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency
    Alexander Pemov
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    BMC Genomics 11:194. 2010

Detail Information

Publications12

  1. pmc Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder
    Douglas R Stewart
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA
    Hum Genet 133:1443-50. 2014
    ..Pathogenic germline and somatic mutations of DICER1 in NCMH establishes that the genetic etiology of NCMH is similar to PPB, despite the disparate biological potential of these neoplasms...
  2. pmc Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors
    Douglas 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
    ....
  3. ncbi request reprint 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...
  4. ncbi request reprint The chromosome 9q subtelomere deletion syndrome
    Douglas 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...
  5. pmc Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1
    Douglas 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...
  6. pmc Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis
    Alexander Pemov
    Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America
    PLoS Genet 10:e1004575. 2014
    ..Individuals with homozygous mutations in MSH6 can develop an NF1-like phenotype, including multiple CALMs. Through a multi-platform approach, we identified variants that influence NF1 CALM count. ..
  7. doi request reprint Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder
    Douglas 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...
  8. pmc 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 syndrome
    Eliezer 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...
  9. pmc Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
    Douglas 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...
  10. pmc Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency
    Alexander Pemov
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    BMC Genomics 11:194. 2010
    ....
  11. ncbi request reprint Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome
    Douglas 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...
  12. pmc Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1
    Douglas 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)...