The Resource Imprinting disorders associated with molecular changes on chromosome 11p15, Rosanna Weksberg, (electronic resource)

Imprinting disorders associated with molecular changes on chromosome 11p15, Rosanna Weksberg, (electronic resource)

Label
Imprinting disorders associated with molecular changes on chromosome 11p15
Title
Imprinting disorders associated with molecular changes on chromosome 11p15
Statement of responsibility
Rosanna Weksberg
Creator
Speaker
Subject
Language
eng
Member of
Cataloging source
HSTalks
Characteristic
representational
Series statement
Molecular genetics of human disease,
Label
Imprinting disorders associated with molecular changes on chromosome 11p15, Rosanna Weksberg, (electronic resource)
Publication
Note
  • Animated audio-visual presentation with synchronized narration
  • Title from title frames
http://library.link/vocab/branchCode
  • net
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
multicolored
Configuration of playback channels
monaural
Content category
two-dimensional moving image
Content type code
tdi
Content type MARC source
rdaconent
Contents
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
Control code
HST3828
Dimensions
unknown
Extent
1 online resource (1 streaming video file (37 min.)
File format
one file format
Governing access note
Access restricted to subscribers
Media category
  • video
  • computer
Media MARC source
  • rdamedia
  • rdamedia
Media type code
  • v
  • c
Medium for sound
other
Other physical details
color, sound)
Publisher number
3828
http://library.link/vocab/recordID
.b37222831
Sound
sound
Sound on medium or separate
sound on medium
Specific material designation
  • remote
  • other
System control number
HST3828
System details
  • Mode of access: World Wide Web
  • System requirements: Browser compatibility: updated Mozilla Firefox, Google Chrome, Safari or Internet Explorer 8+. Browser settings: enable JavaScript, enable cookies from the Henry Stewart Talks site. Required Desktop Browser plugins & viewers: Updated Adobe Flash Player & Adobe Acrobat Reader. Mobile device & operating system versions: Android v4.0+, iPhone 4+ (iOS v6.x+), iPad 2+ (iOS v6.x+), BlackBerry OS v7.0+, Windows Phone v6.5.1+
Video recording format
other

Library Locations

    • Deakin University Library - Geelong Waurn Ponds CampusBorrow it
      75 Pigdons Road, Waurn Ponds, Victoria, 3216, AU
      -38.195656 144.304955
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