03753ngm 2200637 a 450 991088785640332120231116231030.0(CKB)3780000000053306(UkLoHST)2901(UkLoHST)HST3828(EXLCZ)9937800000000533063828Henry Stewart Talks20141027d2014 || vengurcna|||a||||crdamediacrrdacarrierImprinting disorders associated with molecular changes on chromosome 11p15 /Rosanna WeksbergLondon Henry Stewart Talks20141 online resource (1 streaming video file (37 min.) color, sound)Molecular genetics of human disease,2056-452XAnimated audio-visual presentation with synchronized narration.Title from title frames.Contents: What is epigenetics? -- Epigenetic regulation forms the molecular basis for genomic imprinting -- What is genomic imprinting -- Imprinted genes in early development -- Genomic organization of imprinted genes -- Imprinting center -- Imprinted domain 1 on chromosome 11p15.5 -- Complexity of imprinted clusters -- Beckwith-Wiedemann syndrome (BWS) -- BWS: a complex, clinically heterogeneous disorder -- Molecular basis of BWS -- Etiology of the Beckwith-Wiedemann syndrome -- Molecular alterations associated with BWS -- Frequency of molecular alterations in BWS -- The risks to subfertile/ART treated parents -- Subfertility/assisted reproductive technologies (ART) -- BWS molecular defects -- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD -- Somatic mosaicism -- Isolated hemihyperplasia -- High level constitutional UPD -- BWS molecular testing strategies -- Laboratory testing for BWS -- MS-MLPA -- Expected methylation results from MS-MLPA -- MLPA molecular testing for BWS -- Cancer risk & surveillance -- Prenatal testing options -- Current challenges in BWS molecular testing -- Frequency of CNVs according to methylation pattern -- Monozygotic twins and BWS -- Isolated hemihyperplasia -- Current challenges in chromosome 11p15 molecular testing -- Russell-Silver syndrome (RSS -- Chromosomal regions associated with RSS -- Targeted assays of multiple imprinted loci-BWS -- Different combinations of epigenetic alterations associated with variations in clinical phenotype -- Imprint deregulation causing disease in humans.Henry Stewart talks.Biomedical & life sciences collection.Molecular genetics of human disease.EpigeneticsGenetic disordersGenomic imprintingMedical geneticsMolecular geneticsBeckwith-Wiedemann SyndromeChromosomes, Human, Pair 11geneticsEpigenesis, GeneticGenomic ImprintinggeneticsMolecular Diagnostic TechniquesMosaicismSilver-Russell SyndromeEpigenetics.Genetic disorders.Genomic imprinting.Medical genetics.Molecular genetics.Beckwith-Wiedemann Syndrome.Chromosomes, Human, Pair 11genetics.Epigenesis, Genetic.Genomic Imprintinggenetics.Molecular Diagnostic Techniques.Mosaicism.Silver-Russell Syndrome.Weksberg Rosannaspk1770187UkLoHSTUkLoHSTVIDEO9910887856403321Imprinting disorders associated with molecular changes on chromosome 11p154248315UNINA