A L Gropman

Summary

Affiliation: Children's National Medical Center
Country: USA

Publications

  1. ncbi Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    J Dev Behav Pediatr 31:582-91. 2010
  2. ncbi "Giant" arachnoid granulations just like CSF?: NOT!!
    C R Trimble
    Department of Radiological Sciences, Irvine Medical Center, University of California Irvine, 101 The City Drive, Orange, CA 92868, USA
    AJNR Am J Neuroradiol 31:1724-8. 2010
  3. ncbi Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, District of Columbia 20010, USA
    Am J Med Genet A 152:1523-30. 2010
  4. ncbi Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency
    A L Gropman
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010, USA
    AJNR Am J Neuroradiol 31:1719-23. 2010
  5. ncbi Brain imaging in urea cycle disorders
    Andrea Gropman
    Department of Neurology, Children s National Medical Center, Center for Neuroscience and Behavioral Medicine, Washington, DC 20010, USA
    Mol Genet Metab 100:S20-30. 2010
  6. ncbi 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency
    A L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA
    Mol Genet Metab 95:21-30. 2008
  7. ncbi 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA
    Mol Genet Metab 94:52-60. 2008
  8. ncbi Neurological implications of urea cycle disorders
    A L Gropman
    Department of Neurology, Children s National Medical Center and the George Washington University of the Health Sciences, 111 Michigan Avenue, N W, Washington, DC 20010, USA
    J Inherit Metab Dis 30:865-79. 2007
  9. ncbi New developments in Smith-Magenis syndrome (del 17p11.2)
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University of the Health Sciences, Washington, DC 20010, USA
    Curr Opin Neurol 20:125-34. 2007
  10. ncbi Atypical patterns of inheritance
    Andrea L Gropman
    Department of Neurology, Center for Neuroscience and Behavioral Medicine, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    Semin Pediatr Neurol 14:34-45. 2007

Collaborators

Detail Information

Publications14

  1. ncbi Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
    J Dev Behav Pediatr 31:582-91. 2010
    ..This review will describe a number of the molecular genetic mechanisms that play a role in disorders leading to ID/NDD and will discuss the categories and technologies for diagnostic testing of these conditions...
  2. ncbi "Giant" arachnoid granulations just like CSF?: NOT!!
    C R Trimble
    Department of Radiological Sciences, Irvine Medical Center, University of California Irvine, 101 The City Drive, Orange, CA 92868, USA
    AJNR Am J Neuroradiol 31:1724-8. 2010
    ..Nonfluid signal intensity was present in 18/19 AGs and varied from absent/hypointense (intra-AG flow voids) to gray matter isointense (stromal tissue)...
  3. ncbi Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, Washington, District of Columbia 20010, USA
    Am J Med Genet A 152:1523-30. 2010
    ..Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or other factors that warrant further investigation...
  4. ncbi Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency
    A L Gropman
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010, USA
    AJNR Am J Neuroradiol 31:1719-23. 2010
    ..The extent to which the deficits involve specific pathways in the brain is unknown. We hypothesized that DTI would disclose white matter microstructure in OTCD correlating with cognitive deficits...
  5. ncbi Brain imaging in urea cycle disorders
    Andrea Gropman
    Department of Neurology, Children s National Medical Center, Center for Neuroscience and Behavioral Medicine, Washington, DC 20010, USA
    Mol Genet Metab 100:S20-30. 2010
    ..An understanding of the pathogenesis of brain injury in UCD is likely to advance our knowledge of more common disorders of liver dysfunction...
  6. ncbi 1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency
    A L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA
    Mol Genet Metab 95:21-30. 2008
    ..To evaluate brain metabolism in subjects with partial ornithine transcarbamylase deficiency (OTCD) utilizing (1)H MRS...
  7. ncbi 1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA
    Mol Genet Metab 94:52-60. 2008
    ..The concentration of mI seen on (1)H MRS in PWM and FWM in this family could be used to deduce clinical symptomatology and may serve as a non-invasive marker of brain liability in OTCD...
  8. ncbi Neurological implications of urea cycle disorders
    A L Gropman
    Department of Neurology, Children s National Medical Center and the George Washington University of the Health Sciences, 111 Michigan Avenue, N W, Washington, DC 20010, USA
    J Inherit Metab Dis 30:865-79. 2007
    ..Thus, both strategies are intriguing areas for potential investigation in human urea cycle disorders...
  9. ncbi New developments in Smith-Magenis syndrome (del 17p11.2)
    Andrea L Gropman
    Department of Neurology, Children s National Medical Center, George Washington University of the Health Sciences, Washington, DC 20010, USA
    Curr Opin Neurol 20:125-34. 2007
    ..Recent clinical, neuroimaging, sleep, and molecular cytogenetic studies have provided new insights into the mechanisms leading to the Smith-Magenis phenotype and are summarized in this review...
  10. ncbi Atypical patterns of inheritance
    Andrea L Gropman
    Department of Neurology, Center for Neuroscience and Behavioral Medicine, Children s National Medical Center, The George Washington University, Washington, DC 20010, USA
    Semin Pediatr Neurol 14:34-45. 2007
    ..This review is meant to extend and complement the other topics in this issue as the concept of atypical inheritance is explored in more detail...
  11. ncbi Expanding the diagnostic and research toolbox for inborn errors of metabolism: the role of magnetic resonance spectroscopy
    Andrea L Gropman
    Department of Pediatrics (Genetics and Metabolism, Georgetown University, Washington, DC 20057, USA
    Mol Genet Metab 86:2-9. 2005
  12. ncbi Cognitive outcome in urea cycle disorders
    Andrea L Gropman
    Children's Research Institute, Children's National Medical Center, Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC 20010-2916, USA
    Mol Genet Metab 81:S58-62. 2004
    ..Such methods of investigation may serve as a model for studying the relationship between genes, biochemical markers, brain function, and behavior in other metabolic diseases...
  13. ncbi Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)
    Andrea L Gropman
    Department of Pediatrics Genetics and Metabolism, Georgetown University, Washington, DC 20007, USA
    Pediatr Neurol 34:337-50. 2006
    ..Suggestions for management of the behavioral and sleep difficulties are discussed in the context of the authors' personal experience in the setting of an ongoing Smith-Magenis syndrome natural history study...
  14. ncbi Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2)
    Ann C M Smith
    Medical Genetics Branch, National Human Genome Research Institute, NIH, Bldg. 10, Room 10C103, 10 Center Drive, MSC 1875, Bethesda, MD 20892-1875, USA
    Genet Med 4:118-25. 2002
    ..CONCLUSION: Hypercholesterolemia is common in SMS and may serve as a useful early clinical biochemical marker of the syndrome...