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Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Yang L, et al. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. Genes (Basel). 2021. PMID: 34203304 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin-protein ligase E3A (UBE3A) on the chromosome 15q11-13 region. ...There are four molecular mechanisms of etiology: maternal deletion o …
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubi …
Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.
Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF. Keute M, et al. Mol Psychiatry. 2021 Jul;26(7):3625-3633. doi: 10.1038/s41380-020-0858-6. Epub 2020 Aug 13. Mol Psychiatry. 2021. PMID: 32792659 Free PMC article.
Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. ...We found that clinical severity, as captured by these scales, differs between genetic subtypes: individuals with UBE3A pathogenic variants and imprintin …
Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. ...We found tha …
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. Guerrini R, et al. Paediatr Drugs. 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. Paediatr Drugs. 2003. PMID: 14510623 Review.
It is estimated that Angelman syndrome (AS) accounts for up to 6% of all children presenting with severe mental retardation and epilepsy. ...Approximately 70% of patients show a deletion involving the maternally inherited chromosome 15q11-q13, encompassing a cluster …
It is estimated that Angelman syndrome (AS) accounts for up to 6% of all children presenting with severe mental retardation an …
Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.
Mertz LG, Thaulov P, Trillingsgaard A, Christensen R, Vogel I, Hertz JM, Ostergaard JR. Mertz LG, et al. Res Dev Disabil. 2014 Jul;35(7):1742-7. doi: 10.1016/j.ridd.2014.02.018. Epub 2014 Mar 19. Res Dev Disabil. 2014. PMID: 24656292
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, developmental delay, lack of speech, and epileptic seizures. ...Twelve had a Class I deletion, 18 had Class II deletions, three showed atypical large deletions, five had p …
Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, developmental delay, lack of speec …
A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.
Chotai KA, Payne SJ. Chotai KA, et al. J Med Genet. 1998 Jun;35(6):472-5. doi: 10.1136/jmg.35.6.472. J Med Genet. 1998. PMID: 9643288 Free PMC article.
Approximately 98% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a common region in chromosome 15q11-13, uniparental disomy for chromosomes 15 (UPD15), or mutations affecting gene expression in this regi …
Approximately 98% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a common reg …
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.
Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH. Kubota T, et al. J Med Genet. 1996 Dec;33(12):1011-4. doi: 10.1136/jmg.33.12.1011. J Med Genet. 1996. PMID: 9004133 Free PMC article.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct developmental disorders caused by absence of paternal or maternal contributions of the chromosome region 15q11-q13, resulting from deletions, uniparental disomy (UPD), or …
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct developmental disorders caused by absence of pat …
Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.
Baumer A, Balmer D, Schinzel A. Baumer A, et al. Hum Genet. 1999 Dec;105(6):598-602. doi: 10.1007/s004399900197. Hum Genet. 1999. PMID: 10647895 Free article.
The Angelman syndrome (AS) is caused by genetic abnormalities affecting the maternal copy of chromosome region 15q12. Until recently, the molecular diagnosis of AS relied on the detection of either a deletion at 15q11-13, a paternal uniparental diso …
The Angelman syndrome (AS) is caused by genetic abnormalities affecting the maternal copy of chromosome region 15q12. Until re …