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071 50$a3828$bHenry Stewart Talks
100   $a20141027d2014      ||         v
101 0 $aeng
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182   $cc$2rdamedia
183   $acr$2rdacarrier
200 10$aImprinting disorders associated with molecular changes on chromosome 11p15 /$fRosanna Weksberg
210   $aLondon $cHenry Stewart Talks$d2014
215   $a1 online resource (1 streaming video file (37 min.) $ccolor, sound)
225 1 $aMolecular genetics of human disease,$x2056-452X
300   $aAnimated audio-visual presentation with synchronized narration.
300   $aTitle from title frames.
327   $aContents: What is epigenetics? -- Epigenetic regulation forms the molecular basis for genomic imprinting -- What is genomic imprinting -- Imprinted genes in early development -- Genomic organization of imprinted genes -- Imprinting center -- Imprinted domain 1 on chromosome 11p15.5 -- Complexity of imprinted clusters -- Beckwith-Wiedemann syndrome (BWS) -- BWS: a complex, clinically heterogeneous disorder -- Molecular basis of BWS -- Etiology of the Beckwith-Wiedemann syndrome -- Molecular alterations associated with BWS -- Frequency of molecular alterations in BWS -- The risks to subfertile/ART treated parents -- Subfertility/assisted reproductive technologies (ART) -- BWS molecular defects -- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD -- Somatic mosaicism -- Isolated hemihyperplasia -- High level constitutional UPD -- BWS molecular testing strategies -- Laboratory testing for BWS -- MS-MLPA -- Expected methylation results from MS-MLPA -- MLPA molecular testing for BWS -- Cancer risk & surveillance -- Prenatal testing options -- Current challenges in BWS molecular testing -- Frequency of CNVs according to methylation pattern -- Monozygotic twins and BWS -- Isolated hemihyperplasia -- Current challenges in chromosome 11p15 molecular testing -- Russell-Silver syndrome (RSS -- Chromosomal regions associated with RSS -- Targeted assays of multiple imprinted loci-BWS -- Different combinations of epigenetic alterations associated with variations in clinical phenotype -- Imprint deregulation causing disease in humans.
410  0$aHenry Stewart talks.$pBiomedical & life sciences collection.$pMolecular genetics of human disease.
606   $aEpigenetics
606   $aGenetic disorders
606   $aGenomic imprinting
606   $aMedical genetics
606   $aMolecular genetics
606   $aBeckwith-Wiedemann Syndrome
606   $aChromosomes, Human, Pair 11$xgenetics
606   $aEpigenesis, Genetic
606   $aGenomic Imprinting$xgenetics
606   $aMolecular Diagnostic Techniques
606   $aMosaicism
606   $aSilver-Russell Syndrome
615  0$aEpigenetics.
615  0$aGenetic disorders.
615  0$aGenomic imprinting.
615  0$aMedical genetics.
615  0$aMolecular genetics.
615  2$aBeckwith-Wiedemann Syndrome.
615  2$aChromosomes, Human, Pair 11$xgenetics.
615  2$aEpigenesis, Genetic.
615  2$aGenomic Imprinting$xgenetics.
615  2$aMolecular Diagnostic Techniques.
615  2$aMosaicism.
615  2$aSilver-Russell Syndrome.
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996   $aImprinting disorders associated with molecular changes on chromosome 11p15$94248315
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