73 results

... Lossie, A., Driscoll, D., R. C. Phillips Unit, Angelman syndrome: mimicking conditions and phenotypes, American Journal of Medical Genetics, 101, 59-64, 2001 Population: Angelman syndrome, no differential diagnosis with CP. Wilson, J., Investigation ...

... or duplications. Various multigene panels such as Rett/Angelman syndrome panels and more comprehensive childhood-onset epilepsy panels ... Overlapping w/ MECP2 Disorders Distinguishing from MECP2 Disorders Angelman syndrome Deficient expression or function of maternally inherited UBE3A ...

... WAC -related ID) 6 ID usually more severe Angelman syndrome 5 Disruption of maternally imprinted UBE3A See footnote ... et al [2016] had been previously tested for Angelman syndrome. 6. One individual reported by Lugtenberg et al [ ...

... autism spectrum disorder (ASD), global developmental delay (GDD), Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, ... confirm a clinical diagnosis (e.g., ASD, ID, Angelman syndrome, velocardiofacial syndrome), we did not expect to identify ...

... therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec;155( ... HD, et al. Epilepsy in Korean patients with Angelman syndrome. Korean J Pediatr. 2012 May;55(5):171– ...

... et al 2007 ] Rett syndrome Pitt-Hopkins syndrome Angelman syndrome See Mental retardation, autosomal dominant: OMIM Phenotypic Series ... Genome Variation Society ( varnomen ​.hgvs.org ). See Quick Reference for an explanation of ... to 5q31.3 deletion syndrome . PURA is one of three genes located within ...

... dysregulation of other autism-associated genes including UBE3A ( Angelman syndrome ), RAI1 ( Smith-Magenis syndrome ), TCF4 ( Pitt-Hopkins syndrome ), ... not Angelman, what is it? A review of Angelman-like syndromes. Am J Med Genet A. 2014;164A:975- ...

... microcephaly; in particular, early presentations of Rett syndrome , Angelman syndrome , & infantile forms of neuronal ceroid lipofuscinosis (OMIM PS256730 ) ... ED. Table A. Glucose Transporter Type 1 Deficiency Syndrome: Genes and ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...

... stage is therefore broad, and includes Rett syndrome , Angelman syndrome , alpha-fucosidosis, and the epileptic encephalopathies of infancy ...

... testing identifies more than 99% of affected individuals. Angelman syndrome (AS) is characterized by severe developmental delay or ... instability results in the clinical manifestations of Cohen syndrome is not currently understood. References Literature Cited Atabek ME, Keskin M, Kurtoglu S, ...