Fechar
Referências bibliográficas
Título do artigo: "Síndrome de Prader-Willi em lactentes hipotônicos"
1. Prader A, Labhart A, Willi H. Ein syndrom von Adipositas, kleinwuchs, kryptochismus und ologophrenie nach myotonieartigem zustand in neugeborenalter. Schweiz Med Wochenschr 1956; 86: 1260-61.
2. Cassidy SB. Prader-Willi syndrome. J Med Genet 1997; 34: 917-23.
3. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 1989; 342: 281-85.
4. Cassidy SB. Prader-Willi syndrome. Curr Prob Pediatr 1984; 14: 1-55.
5. Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JAL et al. The frequency of uniparental disomy in Prader-Willi syndrome. N Engl J Med 1992; 326: 1599-607.
6. Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM et al. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome imprinting mutation patients. Am J Med Genet 1997; 68:195-206.
7. Butler MG, Meaney FJ, Palmer CG. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 1986; 23: 793-809.
8. Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Hum Genet 1990; 35: 319-32.
9. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91: 398-402.
10. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 1981; 304: 325-29.
11. Einfeld SL, Smith A, Durvasula S, Florio T, Tonge BJ. Behavior and emotional disturbance in Prader-Willi syndrome. Am J Med Genet 1999; 123-27.
12. Robinson WP, Bottani A, Yagang X, Balakrishman J, Binkert F, Machler M et al. Molecular cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 1991; 49: 1219-34.
13. Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JAL et al. The frequency of uniparental disomy in Prader-Willi syndrome. N Engl J Med 1992; 326: 1599-607.
14. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G et al. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994; 54: 741-47.
15. Sutcliffe JS, Nakao M, Christian S, Örstavik KH, Tommerup N, Ledbetter DH et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet 1994; 8: 52-8.
16. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15. Nature Genet 1995; 9: 395-400.
17. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J et al. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA 1996; 93: 7811-15.
18. Southern EM. Detection of specific sequences among DNA fragments separated by gel eletroforesis. J Mol Biol 1975; 98: 503-17.
19. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A et al. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-13): molecular diagnosis and mechanism of uniparental disomy. Hum Molec Genet 1993; 2: 143-51.
20. Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet 1995; 32: 88-92.
21. Butler MG. Molecular dignosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns. Am J Hum Genet 1996; 61: 188-90.
22. Glenn CC, Saitoh S, Jong MTC, Filbrandt MM, Surti U, Driscoll DJ et al. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 1996; 58: 335-46.
23. Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B et al. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 1996; 66: 77-80.
24. Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S et al. Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome. Am J Med Genet 1993; 47: 683-86.
25. Robinson WP, Langlois S, Schuffenhauer S, Horsthemke B, Michaelis RC, Christian S et al. Cytogenetic and age-depend risk factors associated with uniparental disomy 15. Prenatal Diagnosis 1996; 16: 837-44.