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Quoted phrase not found in phrase index: "Prader-Willi syndrome due to imprinting mutation"
Page 1
Common genetic and epigenetic syndromes.
Adams DJ, Clark DA. Adams DJ, et al. Pediatr Clin North Am. 2015 Apr;62(2):411-26. doi: 10.1016/j.pcl.2014.11.005. Epub 2015 Jan 22. Pediatr Clin North Am. 2015. PMID: 25836705 Review.
DNA methylation analysis is the most sensitive initial test in evaluating for Prader-Willi and Angelman syndromes. The timely identification of cytogenetic anomalies allows for prompt initiation of early intervention services to maximize the potential of every indiv …
DNA methylation analysis is the most sensitive initial test in evaluating for Prader-Willi and Angelman syndromes. The timely …
Genomic imprinting disorders in humans: a mini-review.
Butler MG. Butler MG. J Assist Reprod Genet. 2009 Sep-Oct;26(9-10):477-86. doi: 10.1007/s10815-009-9353-3. Epub 2009 Oct 21. J Assist Reprod Genet. 2009. PMID: 19844787 Free PMC article. Review.
Genomic imprints are erased in both germlines and reset accordingly; thus, reversible depending on the parent of origin and leads to differential expression in the course of development. ...The first report in humans occurred in Prader-Willi syndrom …
Genomic imprints are erased in both germlines and reset accordingly; thus, reversible depending on the parent of origin and leads to …
Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review.
Veltman MW, Craig EE, Bolton PF. Veltman MW, et al. Psychiatr Genet. 2005 Dec;15(4):243-54. doi: 10.1097/00041444-200512000-00006. Psychiatr Genet. 2005. PMID: 16314754 Review.
Autism spectrum disorders (ASDs) have been linked with maternally derived duplications/triplications of chromosome 15q11-13 and therefore might occur more frequently in people with Prader-Willi syndrome (PWS) when due to uniparental disomy (UPD), than in othe …
Autism spectrum disorders (ASDs) have been linked with maternally derived duplications/triplications of chromosome 15q11-13 and therefore mi …
Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
Zhang K, Liu S, Feng B, Yang Y, Zhang H, Dong R, Liu Y, Gai Z. Zhang K, et al. PLoS One. 2016 Feb 3;11(2):e0147824. doi: 10.1371/journal.pone.0147824. eCollection 2016. PLoS One. 2016. PMID: 26841067 Free PMC article.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chr15q11.2-q13.3. Three mechanisms are known to be involve …
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurodevelopmental disorders …
Prader-Willi syndrome--a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders.
Veltman MW, Thompson RJ, Roberts SE, Thomas NS, Whittington J, Bolton PF. Veltman MW, et al. Eur Child Adolesc Psychiatry. 2004 Feb;13(1):42-50. doi: 10.1007/s00787-004-0354-6. Eur Child Adolesc Psychiatry. 2004. PMID: 14991431
Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11-13 (Del) behave differently to cases due to uniparental disomy (UPD). ...The results lend further support to the notion that abnormality in …
Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11 …
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 Syn …
Prader-Willi syndrome (PWS) is a prototypic genetic condition related to imprinting. Causative mechanisms includ …
Angelman syndrome due to a novel splicing mutation of the UBE3A gene.
Sartori S, Anesi L, Polli R, Toldo I, Casarin A, Drigo P, Murgia A. Sartori S, et al. J Child Neurol. 2008 Aug;23(8):912-5. doi: 10.1177/0883073808316367. Epub 2008 May 16. J Child Neurol. 2008. PMID: 18487518
The syndrome results from lack of function of the maternal copy of the UBE3A gene on the imprinted Prader-Willi/Angelman syndrome critical region; it is caused by large deletions, paternal uniparental disomy, imprinting center defects or …
The syndrome results from lack of function of the maternal copy of the UBE3A gene on the imprinted Prader-Willi/ …
Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept).
Engel E. Engel E. Ann Genet. 1997;40(1):24-34. Ann Genet. 1997. PMID: 9150847 Review.
This article considers the chances of unmasking UPD, in the course of CVS or AC prenatal diagnosis, by reviewing the main cytogenetic signals and major familial or personal antecedents raising its suspicion. ...Unconditionally, main, consistent or near consistent damages t …
This article considers the chances of unmasking UPD, in the course of CVS or AC prenatal diagnosis, by reviewing the main cytogenetic …
Prader-Willi syndrome: new insights in the behavioural and psychiatric spectrum.
Descheemaeker MJ, Vogels A, Govers V, Borghgraef M, Willekens D, Swillen A, Verhoeven W, Fryns JP. Descheemaeker MJ, et al. J Intellect Disabil Res. 2002 Jan;46(Pt 1):41-50. doi: 10.1046/j.1365-2788.2002.00354.x. J Intellect Disabil Res. 2002. PMID: 11851855
Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of the paternal contribution of the proximal part (15q11-q13) of the long arm of chromosome 15 (i.e. deletion, disomy and imprinting mutation). The syndrome is associate …
Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of the paternal contribution of the proximal part …
Dosage-sensitivity of imprinted genes expressed in the brain: 15q11-q13 and neuropsychiatric illness.
McNamara GI, Isles AR. McNamara GI, et al. Biochem Soc Trans. 2013 Jun;41(3):721-6. doi: 10.1042/BST20130008. Biochem Soc Trans. 2013. PMID: 23697931 Review.
This has been illustrated in a number of experimental models and the fact that both decreased (or complete loss) and increased imprinted gene expression can lead to human diseases. In the present paper, we discuss the consequence of increased dosage of imprinted gen …
This has been illustrated in a number of experimental models and the fact that both decreased (or complete loss) and increased imprinted …
29 results