プラダー・ウ ィリー症候群
( Prader-Willi syndrome )

参考文献一 覧:

1. American Society of Human Genetics/American College of MedicalGenetics Test and Technology Transfer Committee :

Diagnostic testing for Prader-Willi and Angelman syndromes. Am.J. Hum. Genet. 58: 1085-1088, 1996.

2. Bray, G. A.; Dahms, W. T.; Swerdloff, R. S.; Fiser, R. H.; Atkinson,R. L.; Carrel, R. E. :

The Prader-Willi syndrome: a study of 40 patients and a review of the literature. Medicine62: 59-80, 1983.

3. Buiting, K.; Dittrich, B.; Gross, S.; Greger, V.; Lalande, M.;Robinson, W.; Mutirangura, A.; Ledbetter, D.; Horsthemke, B. :

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene. Hum. Molec. Genet. 2: 1991-1994, 1993.

4. Burke, C. M.; Kousseff, B. G.; Gleeson, M.; O'Connell, B. M.; Devlin,J. G. :

Familial Prader-Willi syndrome. Arch.Intern. Med. 147: 673-675, 1987.

5. Butler, M. G. :

Hypopigmentation: a common featureof Prader-Labhart-Willi syndrome. Am. J. Hum. Genet.45: 140-146, 1989.

6. Butler, M. G. :

Prader-Willi syndrome: current understanding of cause and diagnosis. Am. J. Med. Genet. 35: 319-332, 1990.

7. Butler, M. G.; Kaler, S. G.; Yu, P. L.; Meaney, F. J. :

Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome. Clin.Genet. 22: 315-320, 1982.

8. Butler, M. G.; Meaney, F. J. :

An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome. Am.J. Med. Genet. 26: 445-455, 1987.

9. Butler, M. G.; Meaney, F. J.; Kaler, S. G.; Yu, P. L.; Palmer,C. G. :

Clinical differences between chromosome 15q deletion and nondeletion Prader-Willi individuals. (Abstract) Am.J. Hum. Genet. 34: 119A only, 1982.

10. Butler, M. G.; Meaney, F. J.; Palmer, C. G. :

Clinicaland cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am. J. Med. Genet. 23: 793-809, 1986.

11. Butler, M. G.; Palmer, C. G. :

Paternal origin of chromosome 15 deletion in Prader-Willi syndrome. (Abstract)Am. J. Hum. Genet. 35: 128A only, 1983.

12. Carpenter, P. K. :

Prader-Willi syndrome in old age.J. Intellect. Disabil. Res. 38: 529-531, 1994.

13. Cassidy, S. B. :

Recurrence risk in Prader-Willi syndrome.(Letter) Am. J. Med. Genet. 28: 59-60, 1987.

14. Cassidy, S. B. :

Prader-Willi syndrome, characteristics, management, and etiology. Ala. J. Med. Sci. 24: 169-175, 1987.

15. Cassidy, S. B.; Gainey, A. J.; Butler, M. G. :

Occupational hydrocarbon exposure among fathers of Prader-Willi syndrome patients with and without deletions of 15q. Am. J. Hum. Genet. 44: 806-810, 1989.

16. Cassidy, S. B.; McKillop, J. A. :

Temperature regulation in Prader-Willi syndrome. (Abstract) Am. J. Med. Genet.41: 528 only, 1991.

17. Clarren, S. K.; Smith, D. W. :

Prader-Willi syndrome: variable severity and recurrence risk. Am. J. Dis. Child.131: 798-800, 1977.

18. Clayton-Smith, J.; Driscoll, D. J.; Waters, M. F.; Webb, T.; Andrews,T.; Malcolm, S.; Pembrey, M. E.; Nicholls, R. D. :

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. 47: 683-686, 1993.

19. Curfs, L. M. G.; Verhulst, F. C.; Fryns, J. P. :

Behavioral and emotional problems in youngsters with Prader-Willi syndrome.Genetic Counseling 2: 33-41, 1991.

20. Curfs, L. M. G.; Wiegers, A. M.; Sommers, J. R. M.; Borghgraef, M.; Fryns, J. P. :

Strengths and weaknesses in the cognitive profile of youngsters with Prader-Willi syndrome. Clin.Genet. 40: 430-434, 1991.

21. Driscoll, D. J.; Waters, M. F.; Williams, C. A.; Zori, R. T.;Glenn, C. C.; Avidano, K. M.; Nicholls, R. D. :

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13: 917-924, 1992.

22. Duckett, D. P.; Roberts, S. H.; Davies, P. :

Unbalanced reciprocal translocations in cases of Prader-Willi syndrome.Hum. Genet. 67: 156-161, 1984.

23. Dunn, H. G. :

The Prader-Labhart-Willi syndrome: review of the literature and report of nine cases. Acta Paediat.Scand. 186 (suppl.): 1-38, 1968.

24. Fonkalsrud, E. W.; Bray, G. :

Vagotomy for treatment of obesity in childhood due to Prader-Willi syndrome. J.Pediat. Surg. 16: 888-889, 1981.

25. Glenn, C. C.; Nicholls, R. D.; Robinson, W. P.; Saitoh, S.; Niikawa,N.; Schinzel, A.; Horsthemke, B.; Driscoll, D. J. :

Modification of the DNA methylation imprint in unique Angelman and Prader-Willi patients. Hum. Molec. Genet. 2: 1377-1382, 1993.

26. Greenstein, M. A. :

Prader-Willi and Angelman syndromes in one kindred with expression consistent with genetic imprinting.(Abstract) Am. J. Hum. Genet. 47 (suppl.): A59 only, 1990.

27. Greenswag, L. R. :

Adults with Prader-Willi syndrome: a survey of 232 cases. Dev. Med. Child Neurol. 29:145-152, 1987.

28. Hall, B. D. :

Leukaemia and the Prader-Willi syndrome.(Letter) Lancet I: 46 only, 1985.

29. Hamilton, C. R., Jr.; Scully, R. E.; Kliman, B. :

Hypogonadotropism in Prader-Willi syndrome: induction of puberty and spermatogenesis by clomiphene citrate. Am. J. Med. 52: 322-329,1972.

30. Hasegawa, T.; Hara, M.; Ando, M.; Osawa, M.; Fukuyama, Y.; Takahashi,M.; Yamada, K. :

Cytogenetic studies of familial Prader-Willi syndrome. Hum. Genet. 65: 325-330, 1984.

31. 長谷川知子 :

Prader-Willi症候群と発生機構. 小児医学 18: 37-71, 1985.

32. 林雅晴

Prader-Willi症候群-15番染色体長腕欠失の意義.小児内科 21: 75-78, 1989.

33. Hittner, H. M.; King, R. A.; Riccardi, V. M.; Ledbetter, D. H.;Borda, R. P.; Ferrell, R. E.; Kretzer, F. L. :

Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome. Am. J. Ophthal. 94: 328-337, 1982.

34. Holm, V. A.; Cassidy, S. B.; Butler, M. G.; Hanchett, J. M.; Greenswag,L. R.; Whitman, B. Y.; Greenberg, F. :

Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91: 398-402, 1993.

35. Hudgins, L.; Cassidy, S. B. :

Hand and foot length in Prader-Willi syndrome. Am. J. Med. Genet. 41: 5-9, 1991.

36. 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. (Letter)Lancet 338: 638-639, 1991.

37. Ishikawa, T.; Kibe, T.; Wada, Y. :

Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.Am. J. Med. Genet. 62: 350-352, 1996.

38. Katcher, M. L.; Bargman, G. J.; Gilbert, E. F.; Opitz, J. M. :

Absence of spermatogonia in the Prader-Willi syndrome.Europ. J. Pediat. 124: 257-260, 1977.

39. Kennerknecht, I. :

Differentiated recurrence risk estimations in the Prader-Willi syndrome. Clin. Genet. 41: 303-308, 1992.

40. Keverne, E. B.; Fundele, R.; Narasimha, M.; Barton, S. C.; Surani,M. A. :

Genomic imprinting and the differential roles of parental genomes in brain development. Develop. Brain Res. 92: 91-100, 1996.

41. Kubota, T.; Sutcliffe, J. S.; Aradhya, S.; Gillessen-Kaesbach,G.; Christian, S. L.; Horsthemke, B.; Beaudet, A. L.; Ledbetter, D.H. :

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am. J. Med. Genet. 66: 77-80, 1996.

42. Latt, S. A.; Tantravahi, U.; Nicholls, R.; Ringer, S.; Stroh,H.; Fuller, R.; Neve, R.; Kaplan, L.; Wharton, R. :

Mapping, characterization, and diagnostic utilization of 10 DNA segments from the proximal long arm of human chromosome 15. (Abstract)Cytogenet. Cell Genet. 46: 644 only, 1987.

43. Laurance, B. M. :

Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children.Arch. Dis. Child. 42: 126-139, 1967.

44. Laurance, B. M.; Brito, A.; Wilkinson, J. :

Prader-Willi syndrome after age 15 years. Arch. Dis. Child. 56: 181-186, 1981.

45. Ledbetter, D. H.; Greenberg, F.; Holm, V. A.; Cassidy, S. B. :

Conference report: second annual Prader-Willi scientific conference. Am. J. Med. Genet. 28: 779-790, 1987.

46. Ledbetter, D. H.; Mascarello, J. T.; Riccardi, V. M.; Harper,V. D.; Airhart, S. D.; Strobel, R. J. :

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. Am. J. Hum. Genet. 34: 278-285, 1982.

47. Ledbetter, D. H.; Riccardi, V. M.; Airhart, S. D.; Strobel, R.J.; Keenan, B. S.; Crawford, J. D. :

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. New Eng.J. Med. 304: 325-329, 1981.

48. Ledbetter, D. H.; Riccardi, V. M.; Youngbloom, S. A.; Strobel,R. J.; Keenan, B. S.; Crawford, J. D.; Louro, J. M. :

Deletion(15q) as a cause of the Prader-Willi syndrome (PWS). (Abstract)Am. J. Hum. Genet. 32: 77A only, 1980.

49. MacMillan, D. R.; Kim, C. B.; Weisskopf, B. :

Syndrome of growth resistance, obesity, and intellectual impairment with precocious puberty. Arch. Dis. Child. 47: 119-121, 1972.

50. Magenis, R. E.; Toth-Fejel, S.; Allen, L. J.; Black, M.; Brown,M. G.; Budden, S.; Cohen, R.; Friedman, J. M.; Kalousek, D.; Zonana,J.; Lacy, D.; LaFranchi, S.; Lahr, M.; Macfarlane, J.; Williams, C.P. S. :

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am. J. Med. Genet. 35: 333-349, 1990.

51. Mascari, M. J.; Gottlieb, W.; Rogan, P. K.; Butler, M. G.; Waller,D. A.; Armour, J. A. L.; Jeffreys, A. J.; Ladda, R. L.; Nicholls,R. D. :

The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis. New Eng.J. Med. 326: 1599-1607, 1992.

52. Mattei, J. F.; Mattei, M. G.; Giraud, F. :

Prader-Willi syndrome and chromosome 15: a clinical discussion of 20 cases.Hum. Genet. 64: 356-362, 1983.

53. Mattei, M. G.; Souiah, N.; Mattei, J. F. :

Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.Hum. Genet. 66: 313-334, 1984.

54. Mitchell, M.; Schinzel, A.; Langlois, S.; Gillessen-Kaesbach,G.; Schuffenhauer, S.; Michaelis, R.; Abeliovich, D.; Lerer, I.; Christian,S.; Guitart, M.; McFadden, D. E.; Robinson, W. P. :

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome.Am. J. Med. Genet. 65: 133-136, 1996.

55. 村田光範 :

Prader-Willi症候群.新小児医学大系 16C, 小児内分泌学3, 1981, pp47-60.

56. 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 (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum. Molec. Genet. 2: 143-151, 1993.

57. Nicholls, R. D.; Knoll, J. H. M.; Butler, M. G.; Karam, S.; Lalande,M. :

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342: 281-285, 1989.

58. Nicholls, R. D.; Knoll, J. H. M.; Butler, M. G.; Korum, S.; Shook,D.; Glatt, K.; Lalande, M. :

Uniparental disomy for chromosome 15 in the Prader-Willi syndrome. (Abstract) Am. J. Hum.Genet. 45 (suppl.): A209 only, 1989.

59. Niikawa, N.; Ishikiriyama, S. :

Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation. Hum. Genet. 69: 22-27, 1985.

60. 大橋輝久, 武田克治, 森岡政明, 他 :

Prader-Willi症候群の内分泌学的検討. 日本泌尿器科学会雑誌 71: 999-1009, 1980.

61. Orenstein, D. M.; Boat, T. F.; Owens, R. P.; Horowitz, J. G.;Primiano, F. P.; Germann, K.; Doershuk, C. F. :

The obesity hypoventilation syndrome in children with the Prader-Willi syndrome: a possible role for familial decreased response to carbon dioxide.J. Pediat. 97: 765-767, 1980.

62. Prader, A.; Labhart, A.; Willi, H. :

Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz. Med. Wschr. 86: 1260-1261, 1956.

63. Reed, M. L.; Leff, S. E. :

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. NatureGenet. 6: 163-167, 1994.

64. Robinson, W. P.; Bernasconi, F.; Mutirangura, A.; Ledbetter,D. H.; Langlois, S.; Malcolm, S.; Morris, M. A.; Schinzel, A. A. :

Nondisjunction of chromosome 15: origin and recombination.Am. J. Hum. Genet. 53: 740-751, 1993.

65. Robinson, W. P.; Binkert, F.; Gine, R.; Vazquez, C.; Mueller,W.; Rosenkranz, W.; Schinzel, A. :

Clinical and molecular analysis of five inv dup(15) patients. Europ. J. Hum.Genet. 1: 37-50, 1993.

66. Robinson, W. P.; Bottani, A.; Yagang, X.; Balakrishman, J.; Binkert,F.; Machler, M.; Prader, A.; Schinzel, A. :

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am. J. Hum. Genet. 49: 1219-1234, 1991.

67. Robinson, W. P.; Lorda-Sanchez, I.; Malcolm, S.; Langlois, S.;Schuffenhauer, S.; Knoblauch, H.; Horsthemke, B.; Schinzel, A. A.:

Increased parental ages and uniparental disomy 15: a paternal age effect? Europ. J. Hum. Genet. 1: 280-286, 1993.

68. Robinson, W. P.; Wagstaff, J.; Bernasconi, F.; Baccichetti, C.;Artifoni, L.; Franzoni, E.; Suslak, L.; Shih, L. Y.; Aviv, H.; Schinzel,A. A. :

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J. Med. Genet. 30: 756-760, 1993.

69. Schinzel, A.; Robinson, W. P.; Bottani, A.; Yagang, X.; Prader,A. :

Prader-Willi or Angelman syndrome in familial 15q11-q13 deletion of maternal origin? Hum. Genet. 88: 361-362, 1992.

70. Schulze, A.; Hansen, C.; Skakkebaek, N. E.; Brondum- Nielsen,K.; Ledbetter, D. H.; Tommerup, N. :

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nature Genet. 12: 452-454, 1996.

71. Seyler, L. E., Jr.; Arulanantham, K.; O'Connor, C. F. :

Hypergonadotropic-hypogonadism in the Prader-Labhart-Willi syndrome. J. Pediat. 94: 435-437, 1979.

72. Smith, A.; Lindeman, R.; Volpato, F.; Kearney, A.; White, S.;Haan, E.; Trent, R. J. :

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome. Hum. Genet. 86: 534-536, 1991.

73. Stephenson, J. B. P. :

Prader-Willi syndrome: neonatal presentation and later development. Dev. Med. Child Neurol. 22: 792- 795, 1980.

74. Strakowski, S. M.; Butler, M. G. :

Paternal hydrocarbon exposure in Prader-Willi syndrome. (Letter) LancetII: 1458 only, 1987.

75. 鳥越克己, 高橋亮一, 原錬太郎, 他 :

Prader-Willi症候群における中枢性食欲抑制剤 Mazindolの効果（盗癖，糖代謝，脂質代謝の改善と体重減少を認めた１例）. 日本小児科学会雑誌 91: 1700-1704, 1987.

76. Trent, R. J.; Volpato, F.; Smith, A.; Lindeman, R.; Wong, M.-K.;Warne, G.; Haan, E. :

Molecular and cytogenetic studies of the Prader-Willi syndrome. J. Med. Genet. 28: 649-654, 1991.

77. Wevrick, R.; Francke, U. :

Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet 348: 1068-1069, 1996.

78. White, L. M.; Rogan, P. K.; Nicholls, R. D.; Wu, B.-L.; Korf,B.; Knoll, J. H. M. :

Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.Am. J. Hum. Genet. 59: 423-430, 1996.

79. Wiesner, G. L.; Bendel, C. M.; Olds, D. P.; White, J. G.; Arthur,D. C.; Ball, D. W.; King, R. A. :

Hypopigmentation in the Prader-Willi syndrome. Am. J. Hum. Genet. 40: 431-442, 1987.

80. Williams, M. S.; Rooney, B. L.; Williams, J.; Josephson, K.;Pauli, R. :

Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome. Am. J. Med. Genet. 49: 302-307, 1994.

81. Wise, M. S.; Zoghbi, H.; Edwards, M.; Byrd, L. K.; Guttmacher,A. E.; Greenberg, F. :

Hyperthermia in infants with Prader-Willi syndrome. (Abstract) Am. J. Med. Genet. 41: 528 only, 1991.

82. Woodage, T.; Lindeman, R.; Deng, Z. M.; Fimmel, A.; Smith, A.;Trent, R. J. :

Physical mapping studies at D15S10: implications for candidate gene identification in the Angelman syndrome/Prader-Willi syndrome chromosome region of 15q11-q13. Genomics 19: 170-172, 1994.

83. Zellweger, H.; Schneider, H. J. :

Syndrome of hypotonia-hypomentia-hypogonadism-obesity(HHHO) or Prader-Willi syndrome. Am. J. Dis. Child. 115: 588-598, 1968.

上記の文献のほか，OMIMの下記の Prader-Willi syndromeに関するサイトの情報を参考にしました．
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?176270

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