Condition: Angelman Syndrome
rs1064793307 in
SNHG14;UBE3A gene and
Angelman Syndrome
PMID 26255772 2015 An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.
PMID 24796722 2015 Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.
PMID 11748306 2001 Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PMID 9887341 1999 The spectrum of mutations in UBE3A causing Angelman syndrome.
PMID 9585605 1998 Mutation analysis of UBE3A in Angelman syndrome patients.
PMID 27467454 2016 Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
PMID 25782669 2015 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
PMID 29188609 2017 [Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations].
rs1555379684 in
UBE3A;SNHG14 gene and
Angelman Syndrome
PMID 25212744 2014 Mutation Update for UBE3A variants in Angelman syndrome.
PMID 9585605 1998 Mutation analysis of UBE3A in Angelman syndrome patients.
PMID 27467454 2016 Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.
PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
PMID 25782669 2015 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
PMID 11748306 2001 Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
PMID 20034088 2010 A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree.
PMID 9887341 1999 The spectrum of mutations in UBE3A causing Angelman syndrome.
PMID 14981718 2004 Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.
PMID 19213023 2009 Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.