| 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. |
|