TY  - ADVS
AU  - Weksberg,Rosanna
TI  - Imprinting disorders associated with molecular changes on chromosome 11p15
T2  - Molecular genetics of human disease,
PY  - 2014///
CY  - London
PB  - Henry Stewart Talks
KW  - Epigenetics
KW  - Genetic disorders
KW  - Genomic imprinting
KW  - Medical genetics
KW  - Molecular genetics
KW  - Beckwith-Wiedemann Syndrome
KW  - Chromosomes, Human, Pair 11
KW  - genetics
KW  - Epigenesis, Genetic
KW  - Genomic Imprinting
KW  - Molecular Diagnostic Techniques
KW  - Mosaicism
KW  - Silver-Russell Syndrome
N1  - Animated 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; Access restricted to subscribers
UR  - https://hstalks.com/bs/2901/
UR  - https://hstalks.com/bs/p/810/
ER  -