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Quoted phrase not found in phrase index: "Angelman syndrome due to maternal 15q11q13 deletion"
Page 1
Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.
Zylka MJ. Zylka MJ. Autism Res. 2020 Jan;13(1):11-17. doi: 10.1002/aur.2203. Epub 2019 Sep 6. Autism Res. 2020. PMID: 31490639 Free PMC article. Review.
Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally inherited UBE3A allele. ...LAY SUMMARY: Prenatal treatment could benefit expectant parents whose babies test positive for the chromosome micro …
Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by mutation or deletion of the maternally in …
Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
Le Fevre A, Beygo J, Silveira C, Kamien B, Clayton-Smith J, Colley A, Buiting K, Dudding-Byth T. Le Fevre A, et al. Am J Med Genet A. 2017 Mar;173(3):753-757. doi: 10.1002/ajmg.a.38072. Am J Med Genet A. 2017. PMID: 28211971 Review.
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expres …
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy dem …
Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?
Oliver C, Horsler K, Berg K, Bellamy G, Dick K, Griffiths E. Oliver C, et al. J Child Psychol Psychiatry. 2007 Jun;48(6):571-9. doi: 10.1111/j.1469-7610.2007.01736.x. J Child Psychol Psychiatry. 2007. PMID: 17537073
BACKGROUND: Kinship theory (or the genomic conflict hypothesis) proposes that the phenotypic effects of genomic imprinting arise from conflict between paternally and maternally inherited alleles. A prediction arising for social behaviour from this theory is that imb …
BACKGROUND: Kinship theory (or the genomic conflict hypothesis) proposes that the phenotypic effects of genomic imprinting arise from confli …
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA. Muthusamy K, et al. Am J Med Genet A. 2020 Oct;182(10):2442-2449. doi: 10.1002/ajmg.a.61792. Epub 2020 Aug 20. Am J Med Genet A. 2020. PMID: 32815268
Prader-Willi syndrome (PWS) is a prototypic genetic condition related to imprinting. Causative mechanisms include paternal 15q11-q13 deletion, maternal chromosome 15 uniparental disomy (UPD15), Prader-Willi Syndrome/Angelman Syndrome (PWS …
Prader-Willi syndrome (PWS) is a prototypic genetic condition related to imprinting. Causative mechanisms include paternal 15q11-q13 …
UBE3A/E6-AP mutations cause Angelman syndrome.
Kishino T, Lalande M, Wagstaff J. Kishino T, et al. Nat Genet. 1997 Jan;15(1):70-3. doi: 10.1038/ng0197-70. Nat Genet. 1997. PMID: 8988171
Angelman syndrome (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and abnormal gait, is one of the best examples of human disease in which genetic imprinting plays a role. ...These cases are likely to result from mutations in a …
Angelman syndrome (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and abnormal gait, is on …
Mutation analysis of UBE3A in Angelman syndrome patients.
Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. Malzac P, et al. Am J Hum Genet. 1998 Jun;62(6):1353-60. doi: 10.1086/301877. Am J Hum Genet. 1998. PMID: 9585605 Free PMC article.
Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by mutations in the UBE3A gene. ...Two identical de novo 5-bp duplications in exon 16 were …
Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental d …
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.
Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE, Haines JL, Sutcliffe JS. Nurmi EL, et al. Genomics. 2001 Sep;77(1-2):105-13. doi: 10.1006/geno.2001.6617. Genomics. 2001. PMID: 11543639
We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) receptor …
We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approxim …
The spectrum of mutations in UBE3A causing Angelman syndrome.
Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Fang P, et al. Hum Mol Genet. 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. Hum Mol Genet. 1999. PMID: 9887341
Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused by maternal deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mut …
Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused …
Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder.
Mitchell MM, Woods R, Chi LH, Schmidt RJ, Pessah IN, Kostyniak PJ, LaSalle JM. Mitchell MM, et al. Environ Mol Mutagen. 2012 Oct;53(8):589-98. doi: 10.1002/em.21722. Epub 2012 Aug 29. Environ Mol Mutagen. 2012. PMID: 22930557 Free PMC article.
Human brain samples were grouped as neurotypical controls (n = 43), neurodevelopmental disorders with known genetic basis (n = 32, including Down, Rett, Prader-Willi, Angelman, and 15q11-q13 duplication syndromes), and autism of unknown etiology (n = 32). ...Interestingly, …
Human brain samples were grouped as neurotypical controls (n = 43), neurodevelopmental disorders with known genetic basis (n = 32, including …
A boy with developmental delay and a maternally inherited deletion in 15q11q13.
King M, Hardy C, Asenbauer B, Kilpatrick M, Webb T. King M, et al. J Med Genet. 1996 May;33(5):422-5. doi: 10.1136/jmg.33.5.422. J Med Genet. 1996. PMID: 8733057 Free PMC article.
Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He did not have Angelman syndrome, but at 2 years of age was severely globally delayed. ...
Cytogenetic and molecular studies showed that he had a large proximal deletion of the maternally derived chromosome 15q. He di …