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Quoted phrase not found in phrase index: "Angelman syndrome due to imprinting defect in 15q11-q13"
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Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM. Margolis SS, et al. Neurotherapeutics. 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. Neurotherapeutics. 2015. PMID: 26040994 Free PMC article. Review.
In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. ...AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A …
In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular unde …
Molecular epigenetics of Angelman syndrome.
Lalande M, Calciano MA. Lalande M, et al. Cell Mol Life Sci. 2007 Apr;64(7-8):947-60. doi: 10.1007/s00018-007-6460-0. Cell Mol Life Sci. 2007. PMID: 17347796 Review.
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, ataxia, seizures, EEG abnormalities and bouts of inappropriate laughter. ...The known genetic causes of AS are maternal deletion of chromosome 15q11-q13 …
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, ataxia, seizures, EEG abnorma …
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V. Han J, et al. Orphanet J Rare Dis. 2019 Oct 22;14(1):232. doi: 10.1186/s13023-019-1216-0. Orphanet J Rare Dis. 2019. PMID: 31640736 Free PMC article. Clinical Trial.
BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. ...CONCLUSIONS: This study test …
BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene th …
Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome.
Galván-Manso M, Campistol J, Conill J, Sanmartí FX. Galván-Manso M, et al. Epileptic Disord. 2005 Mar;7(1):19-25. Epileptic Disord. 2005. PMID: 15741136 Free article.
Angelman syndrome is a genetic disorder caused by defects in the maternally inherited imprinted domain located on chromosome 15q11-q13. ...We conclude that epilepsy was present in nearly all of our cases with Angelman syndrome …
Angelman syndrome is a genetic disorder caused by defects in the maternally inherited imprinted domain located o …