References

1. Petersen, M.B.; Brondum-Nielsen, K.; Hansen, L.K.; Wulff, K. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county. Am. J. Med. Genet. 1995, 60, 261-262.

2. Buckley, R.H.; Dinno, N.; Weber, P. Angelman syndrome: Are the estimates too low? Am. J. Med. Genet. 1998, 80, 385-390.

3. Angelman, H. Puppet children: A report on three cases. Dev. Med. Child. Neurol. 1965, 7, 681-688.

4. Dan, B.; Boyd, S.G. Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GabrB3 hypothesis. Neuropediatrics 2003, 34 (4), 169-176.

5. Unpublished data.

6. Williams, C.A.; Frias, J.L. The Angelman (''happy puppet'') syndrome. Am. J. Med. Genet. 1982, 11, 453460.

7. Magenis, R.E.; Brown, M.G.; Lacy, D.; Budden, S.; La Franchi, S. Is Angelman syndrome an alternative result of del (15)(q11q13)? Am. J. Med. Genet. 1987, 28, 829838.

8. Knoll, J.H.M.; Nicholls, R.D.; Magenis, R.E.; Graham, J.M.; Lalande, M.; Latt, S.A. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet. 1989, 32, 285-290.

9. American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee ASHG/ACMG Report. Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the

ASHG/ACMG Test and Technology Transfer Committee. Am. J. Hum. Genet. 1996, 58, 1085-1088.

10. Stalker, H.; Williams, C.A. Genetic counselling in Angel-man syndrome. Am. J. Med. Genet. 1998, 77, 54-59.

11. Hulten, M.; Armstrong, S.; Challinor, P.; Gould, C.; Hardy, G.; Leedham, P.; Lee, T.; McKeown, C. Genomic imprinting in an Angelman and Prader-Willi translocation family. Lancet 1991, 338, 638-639.

12. Burger, J.; Horn, D.; Tonnies, H.; Neitzel, H.; Reis, A. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am. J. Med. Genet. 2002, 111, 233237.

13. Malcolm, S.; Clayton-Smith, J.; Nichols, M.; Robb, S.; Webb, T.; Armour, J.A.; Jeffreys, A.J.; Pembrey, M.E. Uniparental paternal disomy in Angelman syndrome. Lancet 1991, 337 (8743), 694-697.

14. Robinson, W.P.; Christian, S.L.; Kuchinka, B.D.; Penaharrera, M.S.; Das, S.; Schuffenhauer, S.; Malcolm, S.; Schinzel, A.A.; Hassold, T.J.; Ledbetter, D.H. Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental di-somy for chromosome 15. Clin. Genet. 2000, 57, 349358.

15. Robinson, W.P.; Lorda-Sanchez, I.; Malcolm, S.; Langlois, S.; Scuffenhauer, S.; Knoblauch, H.; Horsthemke, B.; Schinzel, A.A. Increased parental ages and uniparental disomy 15; a parental age effect? Eur. J. Hum. Genet. 1993, 1, 280-286.

16. Smith, A.; Deng, Z.-M.; Beran, R.; Woodage, T.; Trent, R.J. Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome. Hum. Genet. 1994, 93, 471-473.

17. Buiting, K.; Saitoh, S.; Gross, S.; Dittrich, B.; Schwartz, S.; Nicholls, R.D.; Horsthemke, B. Inherited microdele-tions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15. Nat. Genet. 1995, 9, 395-400.

18. Buiting, K.; Dittrich, B.; Gross, S.; Lich, C.; Farber, C.; Buchholz, T.; Smith, E.; Reis, A.; Burger, J.; Nothen, M.; Barth-Witte, U.; Janssen, B.; Abeliovich, D.; Lerer, I.; Van Den Ouwel, A.M.W.; Halley, D.J.J.; Schrander-Stumpel, C.; Smeets, H.; Meinecke, P.; Malcolm, S.; Gardner, A.; Lalande, M.; Nicholls, R.D.; Friend, K.; Schulze, A.; Matthijs, G.; Kokkonen, H.; Hilbert, P.; Van Maldergem, L.; Glover, G.; Carbonell, P.; Willems, P.; Giellessen-Kaesbach, G.; Horsthemke, B. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counselling, and prenatal diagnosis. Am J. Hum. Genet. 1998, 63, 170-180.

19. Orstavik, K.H.; Eiklid, K.; van der Hagen, C.B.; Spetalen, S.; Kierulf, K.; Skjeldal, O.; Buiting, K. Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Am J. Hum. Genet. 2003, 72 (1), 218-219.

20. Fong, P.; Lev-Lehman, E.; Tsai, T.F.; Matsuura, T.; Benton, C.S.; Sutcliffe, J.S.; Christian, S.L.; Kubota, T.; Halley, D.J.; Meijers-Heijboer, H.; Langlois, S.; Graham,

J.M., Jr.; Beuten, J.; Willems, P.J.; Ledbetter, D.H.; Beaudet, A.L. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum. Mol. Genet. 1999, 8, 129-135.

21. Malzac, P.; Webber, H.; Moncla, A.; Graham, J.M.; Kukolich, M.; Williams, C.; Pagon, R.; Ramsdell, L.A.; Kishino, T.; Wagstaff, J. Mutation analysis of UBE3A in Angelman syndrome. Am. J. Hum. Genet. 1998, 62, 13531360.

22. Stalker, H.; Williams, C.; Wagstaff, J. Genetic counseling for Angelman syndrome. Gonadal mosaicism. Am. J. Med. Genet. 1998, 78, 482.

23. Williams, C.A.; Lossie, A.; Driscoll, D.; RC Phillips Unit. Angelman syndrome: Mimicking conditions and pheno-types. Am. J. Med. Genet. 2001, 101, 59-64.

24. Ciechanover, A. The ubiquitin-proteasome proteolytic pathway. Cell 1994, 79, 13 -21.

25. Vu, T.H.; Hoffman, A.R. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat. Genet. 1997, 17, 12-13.

26. Jiang, Y.; Armstrong, D.; Albrecht, U.; Atkins, C.M.; Noebels, J.L.; Eichele, G.; Sweatt, J.D.; Beaudet, A. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmatic p53 and deficits of contextual learning and long-term potentiation. Neuron 1998, 21, 799-811.

27. Minassian, B.A.; De Lorey, T.M.; Olsen, R.W.; Philippart, M.; Bronstein, Y.; Zhang, Q.; Guerrini, R.; Van Ness, P.; Livet, M.O.; Delgado-Escueta, A.V. Angelman syndrome: Correlations between epilepsy phenotypes and genotypes. Ann. Neurol. 1998, 43, 485-493.

28. Saitoh, S.; Oiso, N.; Wada, T.; Narazaki, O.; Fukai, K. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. J. Med. Genet. 2000, 37, 392-394.

29. Velinov, M.; Jenkins, E.C. PCR-based strategies for the diagnosis of Prader-Willi/Angelman syndromes. Methods Mol. Biol. 2003, 217, 209-216.

30. Velinov, M.; Gu, H.; Shah, K.; Genovese, M.; Duncan, C.; Kupchik, G.; Jenkins, E.C. PCR-based methylation testing for Prader-Willi or Angelman syndrome using archived fixed-cell suspensions. Genet. Test. 2001, 5, 153-155.

31. Mutirangura, A.; Greenberg, F.; Butler, M.G.; Malcolm, S.; Nicholls, R.D.; Chakravarti, A.; Ledbetter, D.H. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11q13): Molecular diagnosis and mechanism of uniparental disomy. Hum. Mol. Genet. 1993, 2 (2), 143-151.

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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