Charles A Williams

Summary

Affiliation: University of Florida
Country: USA

Publications

  1. pmc Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
    Benjamin D Philpot
    Department of Cell and Molecular Physiology, Neuroscience Center, and Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, USA
    J Neurodev Disord 3:50-6. 2011
  2. pmc Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
    Emmanuelle S Topiol
    University of Florida, Department of Pediatrics, Division of Endocrinology, PO Box 100296, Gainesville, FL, 32610, USA
    Int J Pediatr Endocrinol 2012:21. 2012
  3. doi request reprint Molecular biology of epilepsy genes
    Charles A Williams
    Raymond C Philips Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, FL 32605, USA
    Exp Neurol 244:51-8. 2013
  4. doi request reprint The behavioral phenotype of the Angelman syndrome
    Charles A Williams
    Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    Am J Med Genet C Semin Med Genet 154:432-7. 2010
  5. doi request reprint Clinical and genetic aspects of Angelman syndrome
    Charles A Williams
    Raymond C Philips Research and Education Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    Genet Med 12:385-95. 2010
  6. doi request reprint Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation's 2009 scientific symposium
    Charles Williams
    Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    J Child Neurol 25:254-61. 2010
  7. doi request reprint Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP
    Charles Williams
    Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    J Child Neurol 24:904-8. 2009
  8. doi request reprint Genetic disorders associated with macrocephaly
    Charles A Williams
    Raymond C Philips Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida 32610, USA
    Am J Med Genet A 146:2023-37. 2008
  9. ncbi request reprint Ascertainment of gastroschisis using the ICD-9-CM surgical procedure code
    Charles A Williams
    Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville, 32610, USA
    Birth Defects Res A Clin Mol Teratol 73:646-8. 2005
  10. ncbi request reprint Neurological aspects of the Angelman syndrome
    Charles A Williams
    Division of Genetics, Department of Pediatrics, University of Florida, P O Box 100296, Gainesville, FL 32610, USA
    Brain Dev 27:88-94. 2005

Detail Information

Publications17

  1. pmc Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
    Benjamin D Philpot
    Department of Cell and Molecular Physiology, Neuroscience Center, and Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, USA
    J Neurodev Disord 3:50-6. 2011
    ..A developmental picture is now emerging whereby UBE3A gene dosage on chromosome 15 alters synaptic function, with deficiencies leading to Angelman syndrome and overexpression associated with classic autism symptomatology...
  2. pmc Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
    Emmanuelle S Topiol
    University of Florida, Department of Pediatrics, Division of Endocrinology, PO Box 100296, Gainesville, FL, 32610, USA
    Int J Pediatr Endocrinol 2012:21. 2012
    ..In addition to reviewing the management and genetics of NDM we discuss the potential for overlapping genetic or embryologic abnormalities to explain the concurrence of CDH and NDM...
  3. doi request reprint Molecular biology of epilepsy genes
    Charles A Williams
    Raymond C Philips Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, FL 32605, USA
    Exp Neurol 244:51-8. 2013
    ..It is hoped that future genetic and neurobiological studies will provide better insight into how multiple genes contribute to the common epilepsies...
  4. doi request reprint The behavioral phenotype of the Angelman syndrome
    Charles A Williams
    Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    Am J Med Genet C Semin Med Genet 154:432-7. 2010
    ..In this review the core neurological features of the syndrome are discussed with a focus on those behaviors that make Angelman syndrome a prototypical genetic disorder expressing a behavioral phenotype...
  5. doi request reprint Clinical and genetic aspects of Angelman syndrome
    Charles A Williams
    Raymond C Philips Research and Education Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    Genet Med 12:385-95. 2010
    ..Chromosome rearrangements may be inherited or de novo. Prenatal testing is possible for certain genetic mechanisms...
  6. doi request reprint Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation's 2009 scientific symposium
    Charles Williams
    Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    J Child Neurol 25:254-61. 2010
    ..The Angelman Syndrome Foundation's 2009 symposium theme was thus ''Angelman Syndrome at the Synapse,'' and the event enabled neuroscientists and other researchers and clinicians to present their current research on the syndrome...
  7. doi request reprint Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP
    Charles Williams
    Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    J Child Neurol 24:904-8. 2009
    ..The symposium enabled neuroscientists and other researchers to present and discuss studies targeted toward better understanding of UBE3A and its role in the Angelman syndrome...
  8. doi request reprint Genetic disorders associated with macrocephaly
    Charles A Williams
    Raymond C Philips Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida 32610, USA
    Am J Med Genet A 146:2023-37. 2008
    ..The genetic macrocephaly conditions cover a broad spectrum of gene disorders and their related proteins have diverse biological functions. As of yet it is not clear what precise biological pathways lead to generalized brain overgrowth...
  9. ncbi request reprint Ascertainment of gastroschisis using the ICD-9-CM surgical procedure code
    Charles A Williams
    Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville, 32610, USA
    Birth Defects Res A Clin Mol Teratol 73:646-8. 2005
    ..To determine the effectiveness of using the ICD-9-CM procedure code 54.71 for case ascertainment of gastroschisis...
  10. ncbi request reprint Neurological aspects of the Angelman syndrome
    Charles A Williams
    Division of Genetics, Department of Pediatrics, University of Florida, P O Box 100296, Gainesville, FL 32610, USA
    Brain Dev 27:88-94. 2005
    ..The unique epileptic patterns and distinct behavioral features may be related to multiple actions of UBE3A, possibly occurring during, as well as after, the time of neuronal development...
  11. ncbi request reprint Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: case report
    C A Williams
    The R C Philips Unit, Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
    Hum Reprod 19:2816-21. 2004
    ....
  12. ncbi request reprint Treatment of oralfacial clefts by state-affiliated craniofacial centers and cleft palate clinics
    Charles A Williams
    Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida 32610, USA
    Birth Defects Res A Clin Mol Teratol 67:643-6. 2003
    ..We therefore sought to determine statewide referral and treatment patterns of children born with OFC identified through the Florida Birth Defects Registry...
  13. pmc Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems
    Melissa B Ramocki
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 87:857-65. 2010
    ....
  14. ncbi request reprint A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development
    Aditi I Dagli
    Raymond C Philip Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida 32610, USA
    Am J Med Genet A 146:204-7. 2008
    ..The MRI showed generalized, severe enlargement of the corpus callosum and thickening of the cortex. The cause for the MCC syndrome is unknown and both autosomal recessive and spontaneous dominant genetic mechanisms are possibilities...
  15. ncbi request reprint Angelman syndrome 2005: updated consensus for diagnostic criteria
    Charles A Williams
    Department of Pediatrics, Division of Genetics, R C Philips Unit, University of Florida, Gainesville, Florida 32610, USA
    Am J Med Genet A 140:413-8. 2006
    ....
  16. doi request reprint Filippi syndrome: further clinical characterization
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry, Pisa, Italy
    Am J Med Genet A 146:1848-52. 2008
    ..We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome...
  17. doi request reprint Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Pediatrics 121:404-10. 2008
    ..Our aim was to delineate the natural history of deletion 1p36 and develop complete and accurate information with which to answer families' questions in the clinical setting...