1. Butler M. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet 1990; 35(3): 319-332.
2. Cassidy S. Prader-Willi syndrome. J Med Genet 1997; 34(4): 917-923.
3. Ozcelic T, Leff S, Robinson W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U. Small ribonucleoprotein polypeptide N, an expressed gene in the PWS critical region. Nat Genet 1992; 2(4): 265-269.
4. Reed ML, Leff SE. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet 1994; 6(2): 163-167.
5. Clayton-Smith J, Pembrey M. Angelman syndrome. J Med Genet 1992; 29(5): 412-415.
6. Jiang Y, Lev-Lehman E, Bressler J, Tsaiting F, Beaudet A. Neurogenetics 1999: genetics of the Angelman syndrome. Am J Hum Genet 1999; 65(1): 1-6.
7. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15(1): 70-73.
8. Vu TH, Hoffman AR. Imprinting of the AS gene UBE3A is restricted in brain. Nat Genet 1997; 17(1): 12-13.
9. Lindeman R, Kouts S, Woodage T, Smith A, Tren R. Dinucleotide repeat polymorphism near D15S10 in the PWCR. Nucleid Acids Res 1991; 19(19): 5449-5450.
10. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH. Multiplex PCR of three dinucleotide repeats in the PWS/AS critical region (15q11-13): molecular diagnosis and mechanisms of uniparental disomy. Hum Molec Genet 1993; 2(2): 143-151.
11. Hudson J, Engelstein M, Lee K, Ho C, Rubenfield J, Adams P, Housman E. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 1992; 13(3): 622-629.
12. Gunay-Augyn M, Schwartz S, Heeger S, O’Riordan MA, Cassidy SB. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001; 108(5): E92.
13. Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40(2): 87-95.
14. Wagstaff J, Knoll H, Fleming J, Kirkness E, Menninger J, Ward D, venter j, Lalande M. Localization of the gene rncoding the GABAA teceptor b3 subunit to the Angelman/Prader-Willi region of human chromosome 15. Am J Hum Genet 1991; 49(2): 330-337.
15. Trend R, Nassif N, Denz Z-M, Sheffield J, Dengo M, Kim S, Nassif T, Ryce C, Woods G, Michaelis C, Tarleton J, Smith A. A physical map of the Angelman syndrome critical region at locus D15S113 (LS6-1). Am J Hum Genet 1996; 57(Suppl): A1580-1588.
16. Trevisan C, Salia A, Schergna E, Mastero F. The Prader-Willi syndrome: neuroendocrine study of identical twins. Ital J Neurol Sci 1983; 4(1): 79-83.
17. Ikeda K, Asaka A, Inouye E, Kaihara H, Kinoshita K. Monozygotic twins concordant for Prader-Willi syndrome. Jinrui Idengaku Zasshi 1973; 18(2): 220-225.
18. Brissenden JE, Levy EP. Prader-Willi syndrome in infant monozygotic twins. Am J Dis Child 1973; 126(1): 110-112.
19. Pellestor F, Andreo B, Arnal F, Humeau C, Demaille J. Maternal aging and chromosomal abnormalities: new data drown from in vitro unfertilized human oocytes. Hum Genet 2003; 112(2): 195-203.
20. Gillessen-Kaesbach G, Gross S, Kaya-Westerlof S, Passarge E, Horsthemke B. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 1995; 32(2): 88-92.
21. Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. Mutation analysis of UBE3A in AS. Am J Hum Genet 1998; 62(6): 1353-1360.
22. ASHG/ACMG report. Diagnostic testing for Prader-Willi and Angelman syndromes: report of the ASHG/ ACMG Test and Technology Transfer Committee. IS J Hum Genet 1996; 58: 1085-1088.
