Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13
β¦ LIBER β¦
Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation
β Scribed by T. Ohta; K. Buiting; H. Kokkonen; S. McCandless; S. Heeger; H. Leisti; D.J. Driscoll; S.B. Cassidy; B. Horsthemke; R.D. Nicholls
- Book ID
- 117852703
- Publisher
- American Society of Human Genetics
- Year
- 1999
- Tongue
- English
- Weight
- 924 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302232
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Clinical spectrum and molecular diagnosi
β
Saitoh, Shinji; Buiting, Karin; Cassidy, Suzanne B.; Conroy, Jeffrey M.; Driscol
π
Article
π
1997
π
John Wiley and Sons
π
English
β 305 KB
π 2 views
Epimutations in Prader-Willi and Angelma
β
Karin Buiting; Stephanie GroΓ; Christina Lich; Gabriele Gillessen-Kaesbach; Osma
π
Article
π
2003
π
American Society of Human Genetics
π
English
β 200 KB
Molecular characterization of two mutati
β
S. Koskela; J. Partanen; T. T. Salmi; R. KekomΓ€ki
π
Article
π
2009
π
John Wiley and Sons
π
English
β 919 KB
Use of two FISH probes provides a cost-e
β
Arabella Smith; Lisa Robson; Luke St. Heaps
π
Article
π
2002
π
Elsevier Science
π
English
β 52 KB
Molecular characterization of WFS1 in an
β
Sobhani, Maryam; Tabatabaiefar, Mohammad Amin; Rajab, Asadollah; Kajbafzadeh, Ab
π
Article
π
2013
π
Elsevier Science
π
English
β 666 KB
Molecular genetics of the long QT syndro
β
Kirsi Saarinen; Heikki Swan; Katariina Kainulainen; Lauri Toivonen; Matti Viitas
π
Article
π
1998
π
John Wiley and Sons
π
English
β 213 KB
π 3 views
At least three different gene loci were recently shown to account for the long QT syndrome (LQTS), a monogenic disorder with altered myocardial repolarization and occurrence of life-threatening cardiac arrhythmias. We screened 44 unrelated probands for mutations of the gene encoding the cardiac pota