Research Topics
| Charles A WilliamsSummaryAffiliation: University of Florida Country: USA Publications
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Detail Information
Publications
Molecular biology of epilepsy genesCharles A Williams
Raymond C Philips Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, FL 32605, USA Electronic address
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...- The behavioral phenotype of the Angelman syndromeCharles 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... - Clinical and genetic aspects of Angelman syndromeCharles 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... - Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation's 2009 scientific symposiumCharles 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... - Angelman syndrome scientific symposium on the structure and function of UBE3A/E6APCharles 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... - Genetic disorders associated with macrocephalyCharles 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... 
Treatment of oralfacial clefts by state-affiliated craniofacial centers and cleft palate clinicsCharles 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...- Ascertainment of gastroschisis using the ICD-9-CM surgical procedure codeCharles 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... - Neurological aspects of the Angelman syndromeCharles 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... - Blood lymphocyte chimerism associated with IVF and monochorionic dizygous twinning: case reportC 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.... - A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor developmentAditi 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... - Angelman syndrome 2005: updated consensus for diagnostic criteriaCharles 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.... - Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardationAgatino 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... - Filippi syndrome: further clinical characterizationAgatino 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...