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Volumn 46, Issue 7, 2007, Pages 580-591

Prader-Willi syndrome: An update and review for the primary pediatrician

Author keywords

Developmental delay; Growth hormone; Hypotonia; Obesity; Prader Willi syndrome

Indexed keywords

FLUOXETINE; GLYCINE DEHYDROGENASE (DECARBOXYLATING); GROWTH HORMONE; RIBONUCLEOPROTEIN; RISPERIDONE; SEROTONIN UPTAKE INHIBITOR; TESTOSTERONE; ZINC FINGER PROTEIN;

EID: 34547594864     PISSN: 00099228     EISSN: None     Source Type: Journal    
DOI: 10.1177/0009922807299314     Document Type: Review
Times cited : (52)

References (95)
  • 1
    • 84986395858 scopus 로고
    • Genetic and behavioural aspects of Prader-Willi syndrome: A review with a translation of the original paper
    • Clarke DJ, Boer H. Genetic and behavioural aspects of Prader-Willi syndrome: a review with a translation of the original paper. Ment Handicap Res. 1995 ; 8: 38-53.
    • (1995) Ment Handicap Res. , vol.8 , pp. 38-53
    • Clarke, D.J.1    Boer, H.2
  • 3
    • 0017279017 scopus 로고
    • The Prader-Willi syndrome with a 15/15 translocation: Case report and review of the literature
    • Hawkey CJ, Smithies A. The Prader-Willi syndrome with a 15/15 translocation: case report and review of the literature. J Med Genet. 1976 ; 13: 152-156.
    • (1976) J Med Genet. , vol.13 , pp. 152-156
    • Hawkey, C.J.1    Smithies, A.2
  • 4
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll Jhm, Nichols RD, Magenis RE, Graham JM Jr, Lalande M., Latt SA 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.
    • (1989) Am J Med Genet. , vol.32 , pp. 285-290
    • Jhm, K.1    Nichols, R.D.2    Magenis, R.E.3    Graham Jr., J.M.4    Lalande, M.5    Latt, S.A.6
  • 5
    • 0026700732 scopus 로고
    • A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and the Prader-Willi syndromes
    • Driscoll DJ, Waters MF, Williams CA, et al. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and the Prader-Willi syndromes. Genomics. 1992 ; 13: 917-924.
    • (1992) Genomics , vol.13 , pp. 917-924
    • Driscoll, D.J.1    Waters, M.F.2    Williams, C.A.3
  • 6
    • 0027474137 scopus 로고
    • Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndrome: A review
    • Nicholls RD Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndrome: a review. Am J Med Genet. 1993 ; 46: 16-25.
    • (1993) Am J Med Genet. , vol.46 , pp. 16-25
    • Nicholls, R.D.1
  • 7
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
    • 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: 281-285.
    • (1989) Nature. , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Jhm, K.2    Butler, M.G.3    Karam, S.4    Lalande, M.5
  • 8
    • 0026353331 scopus 로고
    • Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients
    • Robinson WP, Bottani A., Yagang X., et al. Molecular, cytogenetic and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet. 1991 ; 49: 1219-1234.
    • (1991) Am J Hum Genet. , vol.49 , pp. 1219-1234
    • Robinson, W.P.1    Bottani, A.2    Yagang, X.3
  • 9
    • 0026647855 scopus 로고
    • The frequency of uniparental disomy in Prader-Willi syndrome
    • Robinson WP, Bottani A., Xie YG, et al. The frequency of uniparental disomy in Prader-Willi syndrome. N Engl J Med. 1992 ; 326: 1599-1607.
    • (1992) N Engl J Med. , vol.326 , pp. 1599-1607
    • Robinson, W.P.1    Bottani, A.2    Xie, Y.G.3
  • 10
    • 0026629938 scopus 로고
    • Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy
    • Cassidy SB, Lai LW, Erickson RP, et al. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet. 1992 ; 51: 701-708.
    • (1992) Am J Hum Genet. , vol.51 , pp. 701-708
    • Cassidy, S.B.1    Lai, L.W.2    Erickson, R.P.3
  • 11
    • 0028939902 scopus 로고
    • Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
    • Buiting K., Saitoh S., Gross S., et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1994 ; 9: 395-400.
    • (1994) Nat Genet. , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3
  • 12
    • 0031055875 scopus 로고    scopus 로고
    • Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome imprinting mutation patients
    • Saitoh S., Buiting K., Cassidy SB, et al. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome imprinting mutation patients. Am J Med Genet. 1997 ; 68: 195-206.
    • (1997) Am J Med Genet. , vol.68 , pp. 195-206
    • Saitoh, S.1    Buiting, K.2    Cassidy, S.B.3
  • 13
    • 0037371674 scopus 로고    scopus 로고
    • Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect
    • Buiting K., Gross S., Lich C., Gillessen-Kaesbach G., el-Maarri O., Horsthemke B. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet. 2003 ; 72: 571-577.
    • (2003) Am J Hum Genet. , vol.72 , pp. 571-577
    • Buiting, K.1    Gross, S.2    Lich, C.3    Gillessen-Kaesbach, G.4    El-Maarri, O.5    Horsthemke, B.6
  • 15
    • 0028969404 scopus 로고
    • Angelman syndrome: Consensus for diagnostic criteria
    • Williams CA, Angelman H., Clayton-Smith J., et al. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet. 1995 ; 56: 237-238.
    • (1995) Am J Med Genet. , vol.56 , pp. 237-238
    • Williams, C.A.1    Angelman, H.2    Clayton-Smith, J.3
  • 16
    • 17344362235 scopus 로고    scopus 로고
    • Mutation analysis of UBE3A in Angelman syndrome patients
    • Malzac P., Webber H., Moncla A., et al. Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet. 1998 ; 62: 1353-1360.
    • (1998) Am J Hum Genet. , vol.62 , pp. 1353-1360
    • Malzac, P.1    Webber, H.2    Moncla, A.3
  • 17
    • 0032939631 scopus 로고    scopus 로고
    • The spectrum of mutations in UBE3A causing Angelman syndrome
    • Fang P., Lev-Lehman E., Tsai TF, et al. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet. 1999 ; 8: 129-135.
    • (1999) Hum Mol Genet. , vol.8 , pp. 129-135
    • Fang, P.1    Lev-Lehman, E.2    Tsai, T.F.3
  • 18
    • 0032941183 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndromes: Update on genetic mechanisms and diagnostic complexities
    • Khan NL, Wood NW Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities. Curr Opin Neurol. 1999 ; 12: 149-154.
    • (1999) Curr Opin Neurol. , vol.12 , pp. 149-154
    • Khan, N.L.1    Wood, N.W.2
  • 19
    • 0027026716 scopus 로고
    • Small nuclear ribonucleoprotein polypeptide N (SNRPN), and expressed gene in the Prader-Willi syndrome critical region
    • Ozcelik T., Leff S., Robinson W., et al. Small nuclear ribonucleoprotein polypeptide N (SNRPN), and expressed gene in the Prader-Willi syndrome critical region. Nat Genet. 1992 ; 2: 265-269.
    • (1992) Nat Genet. , vol.2 , pp. 265-269
    • Ozcelik, T.1    Leff, S.2    Robinson, W.3
  • 20
  • 21
    • 0030052505 scopus 로고    scopus 로고
    • Gene structure, DNA methylation and imprinted expression of the human SNRPN gene
    • Glenn CC, Saitoh S., Jong Mtc, et al. Gene structure, DNA methylation and imprinted expression of the human SNRPN gene. Am J Hum Genet. 1996 ; 58: 335-346.
    • (1996) Am J Hum Genet. , vol.58 , pp. 335-346
    • Glenn, C.C.1    Saitoh, S.2    Mtc, J.3
  • 22
    • 16944363776 scopus 로고    scopus 로고
    • The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
    • Jay P., Rougeulle C., Massacrier A., et al. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet. 1997 ; 17: 357-361.
    • (1997) Nat Genet. , vol.17 , pp. 357-361
    • Jay, P.1    Rougeulle, C.2    Massacrier, A.3
  • 23
    • 0030922598 scopus 로고    scopus 로고
    • Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele
    • Spritz RA, Bailin T., Nicholls RD, et al. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Hum Genet. 1997 ; 71: 57-62.
    • (1997) Am J Hum Genet. , vol.71 , pp. 57-62
    • Spritz, R.A.1    Bailin, T.2    Nicholls, R.D.3
  • 24
    • 0031015938 scopus 로고    scopus 로고
    • Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
    • Cassidy SB, Forsythe M., Heeger S., et al. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet. 1997 ; 68: 433-440.
    • (1997) Am J Med Genet. , vol.68 , pp. 433-440
    • Cassidy, S.B.1    Forsythe, M.2    Heeger, S.3
  • 25
  • 26
    • 0042242603 scopus 로고    scopus 로고
    • Are jigsaw puzzle skills "spared" in persons with Prader-Willi syndrome?
    • Dykens EM Are jigsaw puzzle skills "spared " in persons with Prader-Willi syndrome? J Child Psychol Psychiatry. 2002 ; 43: 343-352.
    • (2002) J Child Psychol Psychiatry , vol.43 , pp. 343-352
    • Dykens, E.M.1
  • 27
    • 0032858626 scopus 로고    scopus 로고
    • Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
    • Dykens EM, Cassidy SB, King BH Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard. 1999 ; 104: 67-77.
    • (1999) Am J Ment Retard , vol.104 , pp. 67-77
    • Dykens, E.M.1    Cassidy, S.B.2    King, B.H.3
  • 28
    • 0033977837 scopus 로고    scopus 로고
    • MacLean W, Feurer ID, Thompson T, Butler MG. Intellectual characteristics of Prader-Willi syndrome: Comparison of genetic subtypes
    • Roof E., Stone W., MacLean W, Feurer ID, Thompson T, Butler MG. Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes. J Intellect Disabil Res. 2000 ; 44: 25-30.
    • (2000) J Intellect Disabil Res , vol.44 , pp. 25-30
    • Roof, E.1    Stone, W.2
  • 29
    • 0030924840 scopus 로고    scopus 로고
    • Delayed diagnosis in Prader-Willi syndrome due to uniparental disomy
    • Gunay-Aygun M., Cassidy SB Delayed diagnosis in Prader-Willi syndrome due to uniparental disomy. Am J Med Genet. 1997 ; 71: 106-110.
    • (1997) Am J Med Genet. , vol.71 , pp. 106-110
    • Gunay-Aygun, M.1    Cassidy, S.B.2
  • 30
    • 0037208057 scopus 로고    scopus 로고
    • Behavioural phenotypes associated with specific genetic disorders: Evidence from a population-based study of people with Prader-Willi syndrome
    • Holland AJ, Whittington JE, Butler J., Webb T., Boer H., Clarke D. Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psychol Med. 2003 ; 33: 141-153.
    • (2003) Psychol Med. , vol.33 , pp. 141-153
    • Holland, A.J.1    Whittington, J.E.2    Butler, J.3    Webb, T.4    Boer, H.5    Clarke, D.6
  • 32
    • 1242320004 scopus 로고    scopus 로고
    • Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome
    • Whittington J., Holland A., Webb T., Butler J., Clarke D., Boer H. Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome. J Intellect Disabil Res. 2004 ; 48: 172-187.
    • (2004) J Intellect Disabil Res. , vol.48 , pp. 172-187
    • Whittington, J.1    Holland, A.2    Webb, T.3    Butler, J.4    Clarke, D.5    Boer, H.6
  • 33
    • 0032195322 scopus 로고    scopus 로고
    • Phenotypic differences in African-Americans with Prader-Willi syndrome
    • Hudgins L., Geer JS, Cassidy SB Phenotypic differences in African-Americans with Prader-Willi syndrome. Genet Med. 1998 ; 1: 49-51.
    • (1998) Genet Med. , vol.1 , pp. 49-51
    • Hudgins, L.1    Geer, J.S.2    Cassidy, S.B.3
  • 34
    • 0008612282 scopus 로고    scopus 로고
    • African-Americans with Prader-Willi syndrome are phenotypically different
    • Cassidy SB, Geer JS, Holm VA, Hudgins L. African-Americans with Prader-Willi syndrome are phenotypically different. Am J Hum Genet. 1996 ; 59: A21.
    • (1996) Am J Hum Genet. , vol.59 , pp. 21
    • Cassidy, S.B.1    Geer, J.S.2    Holm, V.A.3    Hudgins, L.4
  • 35
    • 0034758284 scopus 로고    scopus 로고
    • Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region
    • Whittington JE, Holland AJ, Webb T., Butler J., Webb T., Clarke D. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. J Med Genet. 2001 ; 38: 792-798.
    • (2001) J Med Genet. , vol.38 , pp. 792-798
    • Whittington, J.E.1    Holland, A.J.2    Webb, T.3    Butler, J.4    Webb, T.5    Clarke, D.6
  • 36
    • 0036103117 scopus 로고    scopus 로고
    • Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: A population-based study
    • Butler JV, Whittington JE, Holland AJ, Boer H., Clarke D., Webb T. Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med Child Neurol. 2002 ; 44: 248-255.
    • (2002) Dev Med Child Neurol. , vol.44 , pp. 248-255
    • Butler, J.V.1    Whittington, J.E.2    Holland, A.J.3    Boer, H.4    Clarke, D.5    Webb, T.6
  • 37
    • 0037374087 scopus 로고    scopus 로고
    • Birth prevalence of Prader-Willi syndrome in Australia
    • Smith A., Egan J., Ridley G., et al. Birth prevalence of Prader-Willi syndrome in Australia. Arch Dis Child. 2003 ; 88: 263-264.
    • (2003) Arch Dis Child. , vol.88 , pp. 263-264
    • Smith, A.1    Egan, J.2    Ridley, G.3
  • 38
    • 4344602920 scopus 로고    scopus 로고
    • Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders
    • Vogels A., Van Den Ende J., Keymolen K., et al. Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet. 2004 ; 12: 238-240.
    • (2004) Eur J Hum Genet. , vol.12 , pp. 238-240
    • Vogels, A.1    Van Den Ende, J.2    Keymolen, K.3
  • 39
    • 24344434117 scopus 로고    scopus 로고
    • Prader-Willi syndrome
    • Cassidy SB, Allanson JE, eds. 2nd ed. Hoboken, NJ: John Wiley & Sons
    • Cassidy SB, McCandless SE Prader-Willi syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. 2 nd ed. Hoboken, NJ: John Wiley & Sons, 2005: 429-448.
    • (2005) Management of Genetic Syndromes , pp. 429-448
    • Cassidy, S.B.1    McCandless, S.E.2
  • 41
    • 0347417904 scopus 로고    scopus 로고
    • Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals
    • Stevenson DA, Anaya TM, Clayton-Smith J., et al. Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet. 2004 ; 124A: 154-164.
    • (2004) Am J Med Genet. , vol.124 , pp. 154-164
    • Stevenson, D.A.1    Anaya, T.M.2    Clayton-Smith, J.3
  • 42
    • 0028929128 scopus 로고
    • Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/ Angelman syndrome region by traditional and molecular cytogenetics
    • Toth-Fejel S., Magenis RE, Leff S., et al. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/ Angelman syndrome region by traditional and molecular cytogenetics. Am J Med Genet. 1995 ; 55: 444-452.
    • (1995) Am J Med Genet. , vol.55 , pp. 444-452
    • Toth-Fejel, S.1    Magenis, R.E.2    Leff, S.3
  • 43
    • 0038216582 scopus 로고    scopus 로고
    • Vries JI. Obstetric aspects of the Prader-Willi syndrome
    • Fong BF, De Vries JI. Obstetric aspects of the Prader-Willi syndrome. Ultrasound Obstet Gynecol. 2003 ; 21: 389-392.
    • (2003) Ultrasound Obstet Gynecol. , vol.21 , pp. 389-392
    • Fong, B.F.1    De2
  • 44
    • 0027476242 scopus 로고
    • Prader-Willi syndrome: Consensus diagnostic criteria
    • Holm VA, Cassidy SB, Butler M., et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993 ; 91: 398-402.
    • (1993) Pediatrics , vol.91 , pp. 398-402
    • Holm, V.A.1    Cassidy, S.B.2    Butler, M.3
  • 45
    • 0035515362 scopus 로고    scopus 로고
    • The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
    • Gunay-Aygun 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: E92.
    • (2001) Pediatrics. , vol.108 , pp. 92
    • Gunay-Aygun, M.1    Schwartz, S.2    Heeger, S.3    Ma, O.4    Cassidy, S.B.5
  • 47
    • 0025165774 scopus 로고
    • Physical features of Prader-Willi syndrome in neonates
    • Aughton DJ and Cassidy SB Physical features of Prader-Willi syndrome in neonates. Am J Dis Child. 1990 ; 144: 1351-1254.
    • (1990) Am J Dis Child. , vol.144 , pp. 1351-1254
    • Aughton, D.J.1    Cassidy, S.B.2
  • 48
    • 0038631972 scopus 로고    scopus 로고
    • Hypogonadism and pubertal development in Prader-Willi syndrome
    • Crino A., Schiaffini R., Ciampalini P., et al. Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr. 2003 ; 162: 327-33.
    • (2003) Eur J Pediatr. , vol.162 , pp. 327-33
    • Crino, A.1    Schiaffini, R.2    Ciampalini, P.3
  • 49
    • 0038690664 scopus 로고    scopus 로고
    • Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: A cost comparison
    • Monaghan KG, Wiktor A., Van Dyke DL Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison. Genet Med. 2002 ; 4: 448-450.
    • (2002) Genet Med. , vol.4 , pp. 448-450
    • Monaghan, K.G.1    Wiktor, A.2    Van Dyke, D.L.3
  • 50
    • 0030830035 scopus 로고    scopus 로고
    • Prader-Willi and other syndromes associated with obesity and mental retardation
    • Gunay-Aygun M., Cassidy SB, Nicholls RD Prader-Willi and other syndromes associated with obesity and mental retardation. Behav Genet. 1997 ; 27: 307-324.
    • (1997) Behav Genet. , vol.27 , pp. 307-324
    • Gunay-Aygun, M.1    Cassidy, S.B.2    Nicholls, R.D.3
  • 51
    • 0028008578 scopus 로고
    • An evaluation of autonomic nervous system function in patients with Prader-Willi syndrome
    • DiMario FJ Jr, Dunham B., Burleson JA, Moskovitz J., Cassidy SB An evaluation of autonomic nervous system function in patients with Prader-Willi syndrome. Pediatrics. 1994 ; 93: 76-81.
    • (1994) Pediatrics. , vol.93 , pp. 76-81
    • DiMario Jr., F.J.1    Dunham, B.2    Burleson, J.A.3    Moskovitz, J.4    Cassidy, S.B.5
  • 52
    • 0023278194 scopus 로고
    • Hypopigmentation in the Prader-Willi syndrome
    • Wiesner GL, Bendel CM, Olds DP, et al. Hypopigmentation in the Prader-Willi syndrome. Am J Med Genet. 1987 ; 40: 431-442.
    • (1987) Am J Med Genet. , vol.40 , pp. 431-442
    • Wiesner, G.L.1    Bendel, C.M.2    Olds, D.P.3
  • 53
    • 0024371764 scopus 로고
    • Hypopigmentation: A common feature of the Prader-Labhart-Willi syndrome
    • Butler MG Hypopigmentation: a common feature of the Prader-Labhart-Willi syndrome. Am J Hum Genet. 1989 ; 45: 140-146.
    • (1989) Am J Hum Genet. , vol.45 , pp. 140-146
    • Butler, M.G.1
  • 54
    • 0022620052 scopus 로고
    • Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation
    • Creel DJ, Bendel CM, Wiesner GL, Wirtschafter JD, Arthur DC, King RA Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation. N Engl J Med. 1986 ; 314: 1606-1609.
    • (1986) N Engl J Med. , vol.314 , pp. 1606-1609
    • Creel, D.J.1    Bendel, C.M.2    Wiesner, G.L.3    Wirtschafter, J.D.4    Arthur, D.C.5    King, R.A.6
  • 55
    • 0003154344 scopus 로고
    • Endocrine and metabolic aspects of Prader-Willi syndrome
    • Louise Greenswag L, Alexander R, eds. New York, NY: Springer-Verlag
    • Lee Pdk. Endocrine and metabolic aspects of Prader-Willi syndrome. In: Louise Greenswag L, Alexander R, eds. Management of Prader-Willi Syndrome. New York, NY: Springer-Verlag, 1995: 32-57.
    • (1995) Management of Prader-Willi Syndrome , pp. 32-57
    • Pdk, L.1
  • 56
    • 0030016685 scopus 로고    scopus 로고
    • Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome
    • Angulo M., Castro-Magana M., Mazur B., Canas JA, Vitollo PM, Sarrantonio M. Growth hormone secretion and effects of growth hormone therapy on growth velocity and weight gain in children with Prader-Willi syndrome. J Pediatr Endocrinol Metab. 1996 ; 9: 393-400.
    • (1996) J Pediatr Endocrinol Metab. , vol.9 , pp. 393-400
    • Angulo, M.1    Castro-Magana, M.2    Mazur, B.3    Canas, J.A.4    Vitollo, P.M.5    Sarrantonio, M.6
  • 57
    • 0025997680 scopus 로고
    • Standards for selected anthropometric measurements in Prader-Willi syndrome
    • Butler MG, Meaney FJ Standards for selected anthropometric measurements in Prader-Willi syndrome. Pediatrics. 1991 ; 88: 853-860.
    • (1991) Pediatrics , vol.88 , pp. 853-860
    • Butler, M.G.1    Meaney, F.J.2
  • 58
    • 4344565128 scopus 로고    scopus 로고
    • High incidence of hip dysplasia but not slipped capital femoral epiphysis in patients with Prader-Willi syndrome
    • West LA, Ballock RT High incidence of hip dysplasia but not slipped capital femoral epiphysis in patients with Prader-Willi syndrome. J Pediatr Orthop. 2004 ; 24: 565-567.
    • (2004) J Pediatr Orthop. , vol.24 , pp. 565-567
    • West, L.A.1    Ballock, R.T.2
  • 59
  • 60
    • 0036348083 scopus 로고    scopus 로고
    • Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity
    • Hoybye C., Hilding A., Jacobsson H., Thoren M. Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity. J Clin Endocrinol Metab. 2002 ; 87: 3590-3597.
    • (2002) J Clin Endocrinol Metab. , vol.87 , pp. 3590-3597
    • Hoybye, C.1    Hilding, A.2    Jacobsson, H.3    Thoren, M.4
  • 61
    • 0023188411 scopus 로고
    • Characteristics of abnormal food-intake patterns in children with Prader-Willi syndrome and study of effects of naloxone
    • Zipf WB, Bernston GG Characteristics of abnormal food-intake patterns in children with Prader-Willi syndrome and study of effects of naloxone. Am J Clin Nutr. 1987 ; 46: 277-281.
    • (1987) Am J Clin Nutr. , vol.46 , pp. 277-281
    • Zipf, W.B.1    Bernston, G.G.2
  • 63
    • 4644256877 scopus 로고    scopus 로고
    • Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome
    • Butler MG, Bittel lDC, Talebizadeh Z. Plasma peptide YY and ghrelin levels in infants and children with Prader-Willi syndrome. J Pediatr Endocrinol Metab. 2004 ; 17: 1177-1184.
    • (2004) J Pediatr Endocrinol Metab. , vol.17 , pp. 1177-1184
    • Butler, M.G.1    Ldc, B.2    Talebizadeh, Z.3
  • 64
    • 0017146353 scopus 로고
    • Food and children with Prader-Willi syndrome
    • Holm VA, Pipes PL Food and children with Prader-Willi syndrome. Am J Dis Child. 1976 ; 130: 1063-1067.
    • (1976) Am J Dis Child. , vol.130 , pp. 1063-1067
    • Holm, V.A.1    Pipes, P.L.2
  • 65
    • 0023796516 scopus 로고
    • The use of skinfold measurements to judge obesity during the early phase of Prader-Labhart-Willi syndrome
    • Butler MG, Butler RI, Meaney FJ The use of skinfold measurements to judge obesity during the early phase of Prader-Labhart-Willi syndrome. Int J Obes. 1988 ; 12: 417-422.
    • (1988) Int J Obes. , vol.12 , pp. 417-422
    • Butler, M.G.1    Butler, R.I.2    Meaney, F.J.3
  • 66
    • 0032760438 scopus 로고    scopus 로고
    • A woman with Prader-Willi syndrome gives birth to a healthy baby girl" [letter]
    • Akefeldt A., Tornhage CJ, Gillberg C. " A woman with Prader-Willi syndrome gives birth to a healthy baby girl" [letter]. Dev Med Child Neurol. 1999 ; 41: 789-790.
    • (1999) Dev Med Child Neurol. , vol.41 , pp. 789-790
    • Akefeldt, A.1    Tornhage, C.J.2    Gillberg, C.3
  • 67
    • 0035063385 scopus 로고    scopus 로고
    • Fertility in Prader-Willi syndrome: A case report with Angelman syndrome in the offspring
    • Schulze A., Mogensen H., Hamborg-Petersen B., et al. Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring. Acta Paediatr. 2001 ; 90: 455-459.
    • (2001) Acta Paediatr. , vol.90 , pp. 455-459
    • Schulze, A.1    Mogensen, H.2    Hamborg-Petersen, B.3
  • 68
    • 0036103117 scopus 로고    scopus 로고
    • Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: A population-based study
    • Butler JV, Whittington JE, Holland AJ, Boer H., Clarke D., Webb T. Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study. Dev Med Child Neurol. 2002 ; 44: 248-255.
    • (2002) Dev Med Child Neurol. , vol.44 , pp. 248-255
    • Butler, J.V.1    Whittington, J.E.2    Holland, A.J.3    Boer, H.4    Clarke, D.5    Webb, T.6
  • 69
    • 34547564362 scopus 로고    scopus 로고
    • Speech and language disorders associated with Prader-Willi syndrome
    • Butler MG, Lee PDK, Whitman BY, eds. 3rd ed. New York, NY: Springer-Verlag;
    • Lewis BA Speech and language disorders associated with Prader-Willi syndrome. In: Butler MG, Lee PDK, Whitman BY, eds. Management of Prader-Willi Syndrome. 3 rd ed. New York, NY: Springer-Verlag ; 2006: 272-283.
    • (2006) Management of Prader-Willi Syndrome , pp. 272-283
    • Lewis, B.A.1
  • 70
    • 0026480407 scopus 로고
    • Profiles, correlates and trajectories of intelligence in individuals with Prader-Willi syndrome
    • Dykens EM, Hodapp RM, Walsh K., Nash L. Profiles, correlates and trajectories of intelligence in individuals with Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry. 1992 ; 31: 1125-1130.
    • (1992) J Am Acad Child Adolesc Psychiatry. , vol.31 , pp. 1125-1130
    • Dykens, E.M.1    Hodapp, R.M.2    Walsh, K.3    Nash, L.4
  • 71
    • 0002923902 scopus 로고
    • Psychological profile and behavioral characteristics in Prader-Willi syndrome
    • Berlin, Germany Cassidy SB, ed. Springer-Verlag
    • Curfs LG Psychological profile and behavioral characteristics in Prader-Willi syndrome. In: Cassidy SB, ed. Prader-Willi Syndrome and Other 15q Deletion Disorders. Berlin, Germany: Springer-Verlag, 1992: 211-222.
    • (1992) Prader-Willi Syndrome and Other 15q Deletion Disorders , pp. 211-222
    • Curfs, L.G.1
  • 73
    • 0025341477 scopus 로고
    • Early diagnosis in Prader-Willi syndrome: Implications for managing weight and behavior
    • Greenswag L., Alexander R. Early diagnosis in Prader-Willi syndrome: implications for managing weight and behavior. Dysmorphol Clin Genet. 1990 ; 4: 8-12.
    • (1990) Dysmorphol Clin Genet. , vol.4 , pp. 8-12
    • Greenswag, L.1    Alexander, R.2
  • 74
    • 0023135272 scopus 로고
    • Adults with Prader-Willi syndrome. a survery of 232 cases
    • Greenswag LR Adults with Prader-Willi syndrome. A survery of 232 cases. Dev Med Child Neurol. 1987 ; 29: 145-152.
    • (1987) Dev Med Child Neurol. , vol.29 , pp. 145-152
    • Greenswag, L.R.1
  • 77
    • 0029587002 scopus 로고
    • Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome
    • Dykens EM, Cassidy SB Correlates of maladaptive behavior in children and adults with Prader-Willi syndrome. Am J Med Genet. 1995 ; 60: 546-549.
    • (1995) Am J Med Genet. , vol.60 , pp. 546-549
    • Dykens, E.M.1    Cassidy, S.B.2
  • 79
    • 0037065539 scopus 로고    scopus 로고
    • Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy
    • Boer H., Holland A., Whittington J., Butler J., Webb T., Clarke D. Psychotic illness in people with Prader-Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet. 2002 ; 359: 135-136.
    • (2002) Lancet , vol.359 , pp. 135-136
    • Boer, H.1    Holland, A.2    Whittington, J.3    Butler, J.4    Webb, T.5    Clarke, D.6
  • 80
    • 0036708197 scopus 로고    scopus 로고
    • Sleep and breathing in Prader-Willi syndrome
    • Nixon GM, Brouillette RT Sleep and breathing in Prader-Willi syndrome. Pediatr Pulmonol. 2002 ; 34: 209-217.
    • (2002) Pediatr Pulmonol. , vol.34 , pp. 209-217
    • Nixon, G.M.1    Brouillette, R.T.2
  • 81
    • 0028942929 scopus 로고
    • Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: The role of obesity
    • Hertz G., Cataletto M., Feinsilver SH, Angulo M. Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: the role of obesity. Am J Med Genet. 1995 ; 56: 188-190.
    • (1995) Am J Med Genet. , vol.56 , pp. 188-190
    • Hertz, G.1    Cataletto, M.2    Sh, F.3    Angulo, M.4
  • 82
    • 33750619758 scopus 로고    scopus 로고
    • Growth hormone and Prader-Willi syndrome
    • Butler MG, Lee PDK, Whitman BY, eds. 3rd ed. New York, NY : Springer-Verlag;
    • Carrel AL, Lee Pdk, Mogul HR Growth hormone and Prader-Willi syndrome. In: Butler MG, Lee PDK, Whitman BY, eds. Management of Prader-Willi Syndrome. 3 rd ed. New York, NY: Springer-Verlag ; 2006: 201-244.
    • (2006) Management of Prader-Willi Syndrome , pp. 201-244
    • Carrel, A.L.1    Pdk, L.2    Mogul, H.R.3
  • 84
    • 0037656509 scopus 로고    scopus 로고
    • Growth hormone treatment improves body composition in adults with Prader-Willi syndrome
    • Hoybye C., Hilding A., Jacobsson H., Thoren M. Growth hormone treatment improves body composition in adults with Prader-Willi syndrome. Clin Endocrinol. 2003 ; 58: 653-661.
    • (2003) Clin Endocrinol. , vol.58 , pp. 653-661
    • Hoybye, C.1    Hilding, A.2    Jacobsson, H.3    Thoren, M.4
  • 85
    • 0034794441 scopus 로고    scopus 로고
    • Sustained benefits of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome are dose-dependent
    • Carrel AL, Myers SE, Whitman BY, Allen DB Sustained benefits of growth hormone on body composition, fat utilization, physical strength and agility, and growth in Prader-Willi syndrome are dose-dependent. J Pediatr Endocrinol Metab. 2001 ; 14: 1097-1105.
    • (2001) J Pediatr Endocrinol Metab , vol.14 , pp. 1097-1105
    • Carrel, A.L.1    Myers, S.E.2    Whitman, B.Y.3    Allen, D.B.4
  • 86
  • 88
    • 0036440586 scopus 로고    scopus 로고
    • Fatal outcome of sleep apnoea in PWS during the initial phase of growth hormone treatment. a case report
    • Eiholzer U., Nordmann Y., l'Allemand D. Fatal outcome of sleep apnoea in PWS during the initial phase of growth hormone treatment. A case report. Horm Res. 2002 ; 58: 24-26.
    • (2002) Horm Res. , vol.58 , pp. 24-26
    • Eiholzer, U.1    Nordmann, Y.2    L'Allemand, D.3
  • 89
    • 0345863515 scopus 로고    scopus 로고
    • Sudden death in growth hormone-treated children with Prader-Willi syndrome
    • Vliet GV, Deal CL, Crock PA, Robitaille Y., Oligny LL Sudden death in growth hormone-treated children with Prader-Willi syndrome. J Pediatr. 2004 ; 144: 129-131.
    • (2004) J Pediatr. , vol.144 , pp. 129-131
    • Vliet, G.V.1    Deal, C.L.2    Crock, P.A.3    Robitaille, Y.4    Oligny, L.L.5
  • 90
    • 0035719948 scopus 로고    scopus 로고
    • Endocrine dysfunction in Prader-Willi syndrome: A review with special reference to GH
    • Burman P., Ritzen EM, Lindgren AC Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH. Endocr Rev. 2001 ; 22: 787-799.
    • (2001) Endocr Rev. , vol.22 , pp. 787-799
    • Burman, P.1    Ritzen, E.M.2    Lindgren, A.C.3
  • 91
    • 0033863555 scopus 로고    scopus 로고
    • Behavioral and psychotropic interventions in persons with Prader-Willi syndrome
    • Brice JA Behavioral and psychotropic interventions in persons with Prader-Willi syndrome. Endocrinologist. 2000 ; 10: 27S - 30S.
    • (2000) Endocrinologist. , vol.10
    • Brice, J.A.1
  • 93
    • 0025907962 scopus 로고
    • The use of fluoxetine in an adolescent with Prader-Willi syndrome
    • Desh B., Budow L. The use of fluoxetine in an adolescent with Prader-Willi syndrome. J Am Acad Child Adolesc Psychiatry. 1991 ; 30: 298-302.
    • (1991) J Am Acad Child Adolesc Psychiatry , vol.30 , pp. 298-302
    • Desh, B.1    Budow, L.2
  • 95
    • 0001032830 scopus 로고
    • Aging in Prader-Willi syndrome: 232 patients over age 30 years.
    • Cassidy SB, Devi A., Mukaida C. Aging in Prader-Willi syndrome: 232 patients over age 30 years. Proc Greenwood Genet Center. 1994 ; 13: 102-103.
    • (1994) Proc Greenwood Genet Center , vol.13 , pp. 102-103
    • Cassidy, S.B.1    Devi, A.2    Mukaida, C.3


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