Nazli B McDonnell

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue
    Thomas H Milhorat
    Department of Neurosurgery, The Chiari Institute, Harvey Cushing Institute of Neuroscience, North Shore Long Island Jewish Health System, Manhasset, New York 11030, USA
    J Neurosurg Spine 7:601-9. 2007
  2. ncbi Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes
    Nazli B McDonnell
    Human Genetics and Integrative Medicine Section, Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
    Am J Med Genet A 140:129-36. 2006
  3. ncbi Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency
    Wuyan Chen
    Laboratory of Clinical Investigation, National Institute on Aging, Baltimore, MD 21224, USA
    Clin Chem 58:421-30. 2012
  4. ncbi Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Gabriela P Finkielstain
    Program in Developmental Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 96:E161-72. 2011
  5. ncbi Circulating transforming growth factor-beta in Marfan syndrome
    Peter Matt
    602 Mason F Lord Bldg, Center Tower, Johns Hopkins University, Baltimore, MD 21239, USA
    Circulation 120:526-32. 2009
  6. ncbi The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects
    Wuyan Chen
    Laboratory of Clinical Investigation, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, USA
    Am J Med Genet A 149:2803-8. 2009
  7. ncbi Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome
    Wilfried Briest
    Laboratory of Cardiovascular Sciences, National Institute on Aging, Baltimore, Maryland, USA
    J Pharmacol Exp Ther 337:621-7. 2011
  8. ncbi Contemporary management of vascular complications associated with Ehlers-Danlos syndrome
    Benjamin S Brooke
    Division of Vascular and Endovascular Surgery, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    J Vasc Surg 51:131-8; discussion 138-9. 2010

Collaborators

  • Wilfried Briest
  • Samer S Najjar
  • Julie De Backer
  • Qin Fu
  • P Matt
  • Wuyan Chen
  • Gabriela P Finkielstain
  • Deborah P Merke
  • Carol Van Ryzin
  • Benjamin S Brooke
  • Thomas H Milhorat
  • Annie Sullivan
  • Zhi Xu
  • Sneha P Mehta
  • Frank K Fujimura
  • Reem M Hanna
  • James H Black
  • George Arnaoutakis
  • Carol VanRyzin
  • Sujata Shanbhag
  • Andrew Arai
  • Mimi S Kim
  • Paolo A Bolognese
  • Misao Nishikawa
  • Clair A Francomano

Detail Information

Publications8

  1. ncbi Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue
    Thomas H Milhorat
    Department of Neurosurgery, The Chiari Institute, Harvey Cushing Institute of Neuroscience, North Shore Long Island Jewish Health System, Manhasset, New York 11030, USA
    J Neurosurg Spine 7:601-9. 2007
    ..The authors report an association between CM-I and hereditary disorders of connective tissue (HDCT) that can present with lower brainstem symptoms attributable to occipitoatlantoaxial hypermobility and cranial settling...
  2. ncbi Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes
    Nazli B McDonnell
    Human Genetics and Integrative Medicine Section, Laboratory of Genetics, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
    Am J Med Genet A 140:129-36. 2006
    ..The study is ongoing and will accrue longitudinal data on 100 subjects with classical and hypermobile EDSs at 2-year intervals...
  3. ncbi Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency
    Wuyan Chen
    Laboratory of Clinical Investigation, National Institute on Aging, Baltimore, MD 21224, USA
    Clin Chem 58:421-30. 2012
    ..A comprehensive junction site analysis of chimeric CYP21A1P/CYP21A2 genes is needed for optimizing genetic analysis strategy and determining clinical relevance...
  4. ncbi Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Gabriela P Finkielstain
    Program in Developmental Endocrinology and Genetics, National Institutes of Health, Bethesda, Maryland 20892 1932, USA
    J Clin Endocrinol Metab 96:E161-72. 2011
    ..Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency...
  5. ncbi Circulating transforming growth factor-beta in Marfan syndrome
    Peter Matt
    602 Mason F Lord Bldg, Center Tower, Johns Hopkins University, Baltimore, MD 21239, USA
    Circulation 120:526-32. 2009
    ..We hypothesized that dysregulation of TGF-beta might be mirrored in circulating TGF-beta concentrations...
  6. ncbi The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects
    Wuyan Chen
    Laboratory of Clinical Investigation, National Institute on Aging, National Institutes of Health, Baltimore, Maryland, USA
    Am J Med Genet A 149:2803-8. 2009
    ..These findings further delineate the phenotype of the CAH-TNX contiguous gene deletion syndrome and point to an intersection of connective tissue dysplasias with a common gene-mediated endocrine disorder...
  7. ncbi Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome
    Wilfried Briest
    Laboratory of Cardiovascular Sciences, National Institute on Aging, Baltimore, Maryland, USA
    J Pharmacol Exp Ther 337:621-7. 2011
    ..The results suggest that doxycycline merits clinical testing as a treatment for vEDS...
  8. ncbi Contemporary management of vascular complications associated with Ehlers-Danlos syndrome
    Benjamin S Brooke
    Division of Vascular and Endovascular Surgery, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    J Vasc Surg 51:131-8; discussion 138-9. 2010
    ..The purpose of this study was to review the surgical management and clinical outcomes of EDS patients undergoing vascular procedures at a tertiary medical center with multimodality expertise in connective tissue disorders...