Imprinting disorders associated with molecular changes on chromosome 11p15

Imprinting disorders associated with molecular changes on chromosome 11p15

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Bibliographic Details
Other Authors: Weksberg, Rosanna (Speaker)
Format: Electronic Video
Language:English
Published: London : Henry Stewart Talks, 2014.
Series:Henry Stewart talks. Biomedical & life sciences collection. Molecular genetics of human disease.
Subjects:
Epigenetics.
Genetic disorders.
Genomic imprinting.
Medical genetics.
Molecular genetics.
Beckwith-Wiedemann Syndrome.
Chromosomes, Human, Pair 11 > genetics.
Epigenesis, Genetic.
Genomic Imprinting > genetics.
Molecular Diagnostic Techniques.
Mosaicism.
Silver-Russell Syndrome.
Online Access:https://hstalks.com/bs/2901/
Series
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MARC

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028 5 0 |a 3828  |b Henry Stewart Talks 
035 |a (UkLoHST)2901 
040 |a UkLoHST  |b eng  |c UkLoHST 
100 1 |a Weksberg, Rosanna.  |4 spk  |9 103264 
245 1 0 |a Imprinting disorders associated with molecular changes on chromosome 11p15  |h [electronic resource] /  |c Rosanna Weksberg. 
260 |a London :  |b Henry Stewart Talks,  |c 2014. 
300 |a 1 online resource (1 streaming video file (37 min.) :  |b color, sound). 
490 1 |a Molecular genetics of human disease,  |x 2056-452X 
500 |a Animated audio-visual presentation with synchronized narration. 
500 |a Title from title frames. 
505 0 |a 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. 
506 |a Access restricted to subscribers. 
538 |a Mode of access: World Wide Web. 
650 0 |a Epigenetics.  |9 103265 
650 0 |a Genetic disorders.  |9 103266 
650 0 |a Genomic imprinting.  |9 103267 
650 0 |a Medical genetics.  |9 103268 
650 0 |a Molecular genetics.  |9 103269 
650 2 |a Beckwith-Wiedemann Syndrome.  |9 103270 
650 2 |a Chromosomes, Human, Pair 11  |x genetics.  |9 103271 
650 2 |a Epigenesis, Genetic.  |9 103272 
650 2 |a Genomic Imprinting  |x genetics.  |9 103273 
650 2 |a Molecular Diagnostic Techniques.  |9 103274 
650 2 |a Mosaicism.  |9 103275 
650 2 |a Silver-Russell Syndrome.  |9 103276 
830 0 |a Henry Stewart talks.  |p Biomedical & life sciences collection.  |p Molecular genetics of human disease.  |9 103277 
856 4 0 |u https://hstalks.com/bs/2901/ 
856 4 2 |u https://hstalks.com/bs/p/810/  |3 Series 
999 |c 215026  |d 215025 

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