메뉴 건너뛰기




Volumn 62, Issue 4, 2002, Pages 273-281

A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS

Author keywords

Behavioral characteristics; Deletion; Maternal UPD; Physical characteristics; Prader; Willi syndrome

Indexed keywords

ADULT; ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; CLINICAL FEATURE; COHORT ANALYSIS; DIAGNOSTIC TEST; DISOMY; FEMALE; GENDER; GENE EXPRESSION; GENE FUNCTION; GENETIC ANALYSIS; GENOME IMPRINTING; GENOTYPE; HAPLOIDY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PHENOTYPE; POPULATION RESEARCH; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

EID: 0036822094     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620404.x     Document Type: Article
Times cited : (36)

References (36)
  • 1
    • 0025360106 scopus 로고
    • Genomic imprinting: Review and relevance to human diseases
    • Hall JG. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 1990: 46: 857-873.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 857-873
    • Hall, J.G.1
  • 2
    • 0027290868 scopus 로고
    • Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes
    • Nicholls RD. Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes. Curr Opin Genet Dev 1993: 3: 445-456.
    • (1993) Curr. Opin. Genet. Dev. , vol.3 , pp. 445-456
    • Nicholls, R.D.1
  • 3
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal uniparental heterodisomy in nondeletion Prader-Willi syndrome
    • Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal uniparental heterodisomy in nondeletion Prader-Willi syndrome. Nature 1989: 342: 281-285.
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.2    Butler, M.G.3    Karam, S.4    Lalande, M.5
  • 4
    • 0026080417 scopus 로고
    • Uniprental disomy in Angelman's syndrome
    • Malcolm S, Clayton-Smith J, Nichols M et al. Uniprental disomy in Angelman's syndrome. Lancet 1991: 37: 694-697.
    • (1991) Lancet , vol.37 , pp. 694-697
    • Malcolm, S.1    Clayton-Smith, J.2    Nichols, M.3
  • 5
    • 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. Nature Genet 1995: 9: 395-400.
    • (1995) Nature Genet. , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3
  • 6
    • 0030762915 scopus 로고    scopus 로고
    • Different mechanisms and recurrent risks of imprinting defects in Angelman syndrome
    • Burger J, Buiting K, Dittrich B et al. Different mechanisms and recurrent risks of imprinting defects in Angelman syndrome. Am J Hum Genet 1997: 61: 88-93.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 88-93
    • Burger, J.1    Buiting, K.2    Dittrich, B.3
  • 7
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet 1997: 15: 70-73.
    • (1997) Nature Genet. , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 8
    • 0031031570 scopus 로고    scopus 로고
    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
    • Matsuura T, Sutcliffe JS, Fang P et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet 1997: 15: 74-77.
    • (1997) Nature Genet. , vol.15 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3
  • 9
    • 0032837374 scopus 로고    scopus 로고
    • Towards a molecular understanding of Prader-Willi and Angelman syndromes
    • Mann MR, Bartolomei MS. Towards a molecular understanding of Prader-Willi and Angelman syndromes. Hum Mol Genet 1999: 8: 1867-1873.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1867-1873
    • Mann, M.R.1    Bartolomei, M.S.2
  • 10
    • 0028937174 scopus 로고
    • Domain organisation of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution
    • LaSalle JM, Lalande M. Domain organisation of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution. Nature Genet 1995: 9: 386-394.
    • (1995) Nature Genet. , vol.9 , pp. 386-394
    • LaSalle, J.M.1    Lalande, M.2
  • 11
    • 0030687684 scopus 로고    scopus 로고
    • Evidence for uniparental, paternal expression of the human GABA receptor subunit genes, using microcell-mediated chromosome transfer
    • Meguro M, Mitsuya K, Sui H et al. Evidence for uniparental, paternal expression of the human GABA receptor subunit genes, using microcell-mediated chromosome transfer. Hum Mol Genet 1997: 6: 2127-2133.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2127-2133
    • Meguro, M.1    Mitsuya, K.2    Sui, H.3
  • 12
    • 0033651946 scopus 로고    scopus 로고
    • Prader-Willi & Angelman syndromes: Sister imprinted disorders
    • Cassidy SB, Dykens E, Williams CA. Prader-Willi & Angelman syndromes: sister imprinted disorders. Am J Med Genet 2000: 97: 136-146.
    • (2000) Am. J. Med. Genet. , vol.97 , pp. 136-146
    • Cassidy, S.B.1    Dykens, E.2    Williams, C.A.3
  • 15
    • 0030726998 scopus 로고    scopus 로고
    • Prader-Willi syndrome
    • Cassidy SB. Prader-Willi syndrome. J Med Genet 1997: 34: 917-923.
    • (1997) J. Med. Genet. , vol.34 , pp. 917-923
    • Cassidy, S.B.1
  • 16
    • 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: 135-137.
    • (2002) Lancet , vol.359 , pp. 135-137
    • Boer, H.1    Holland, A.2    Whittington, J.3    Butler, J.4    Webb, T.5    Clarke, D.6
  • 18
    • 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, Clarke D, Boer H. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK health region. J Medical Genet 2001: 38: 292-298.
    • (2001) J. Medical Genet. , vol.38 , pp. 292-298
    • Whittington, J.E.1    Holland, A.J.2    Webb, T.3    Butler, J.4    Clarke, D.5    Boer, H.6
  • 20
    • 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    Jong, M.T.C.3
  • 22
    • 0028014593 scopus 로고
    • Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
    • Lee S-T, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. New Engl J Med 1994: 330: 529-534.
    • (1994) New Engl. J. Med. , vol.330 , pp. 529-534
    • Lee, S.-T.1    Nicholls, R.D.2    Bundey, S.3    Laxova, R.4    Musarella, M.5    Spritz, R.A.6
  • 23
    • 0031732853 scopus 로고    scopus 로고
    • Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader-Willi patients: Indications for a processing defect
    • Gabreels BA, Swaab DF, de Kleijn DP et al. Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader-Willi patients: indications for a processing defect. J Clin Endocr Metab 1998: 83: 591-599.
    • (1998) J. Clin. Endocr. Metab. , vol.83 , pp. 591-599
    • Gabreels, B.A.1    Swaab, D.F.2    de Kleijn, D.P.3
  • 24
    • 0035864916 scopus 로고    scopus 로고
    • Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: An imprinted direct repeat cluster resembling small nucleolar RNA genes
    • Meguro M, Mitsuya K, Nomura N et al. Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Hum Mol Genet 2001: 10: 383-394.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 383-394
    • Meguro, M.1    Mitsuya, K.2    Nomura, N.3
  • 25
    • 0035509699 scopus 로고    scopus 로고
    • The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    • Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum Mol Genet 2001: 10: 2687-2700.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2687-2700
    • Runte, M.1    Huttenhofer, A.2    Gross, S.3    Kiefmann, M.4    Horsthemke, B.5    Buiting, K.6
  • 27
    • 0033006693 scopus 로고    scopus 로고
    • Behaviour and personality characteristics of children and young adults with Prader-Willi syndrome: A controlled study
    • Akefeldt A, Gillberg C. Behaviour and personality characteristics of children and young adults with Prader-Willi syndrome: a controlled study. J Am Acad Child Adolesc Psychiatry 1999: 38: 761-769.
    • (1999) J. Am. Acad. Child Adolesc. Psychiatry , vol.38 , pp. 761-769
    • Akefeldt, A.1    Gillberg, C.2
  • 28
    • 0030724832 scopus 로고    scopus 로고
    • Maladaptive behaviour in children with Prader-Willi syndrome Down syndrome and non-specific mental retardation
    • Dykens EM, Kasari C. Maladaptive behaviour in children with Prader-Willi syndrome Down syndrome and non-specific mental retardation. Am J Ment Retard 1997: 102: 228-237.
    • (1997) Am. J. Ment. Retard. , vol.102 , pp. 228-237
    • Dykens, E.M.1    Kasari, C.2
  • 29
    • 0029907547 scopus 로고    scopus 로고
    • Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences
    • Mitchell J, Schinzel A, Langlois S et al. Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences. Am J Med Genet 1996: 65: 133-136.
    • (1996) Am. J. Med. Genet. , vol.65 , pp. 133-136
    • Mitchell, J.1    Schinzel, A.2    Langlois, S.3
  • 30
    • 0030924840 scopus 로고    scopus 로고
    • Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy
    • Gunay-Aysun M, Heeger S, Schwartz S, Cassidy SB. Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy. Am J Med Genet 1997: 71: 106-116.
    • (1997) Am. J. Med. Genet. , vol.71 , pp. 106-116
    • Gunay-Aysun, M.1    Heeger, S.2    Schwartz, S.3    Cassidy, S.B.4
  • 31
    • 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
  • 32
    • 0032858626 scopus 로고    scopus 로고
    • Maladaptive behaviour differences in Prader-Willi syndrome paternal deletion versus maternal uniparental disomy
    • Dykens EM, Cassidy SB, King BH. Maladaptive behaviour differences in Prader-Willi syndrome 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
  • 35
    • 0035825226 scopus 로고    scopus 로고
    • Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome
    • Joseph B, Egli M, Sutcliffe JS, Thompson T. Possible dosage effect of maternally expressed genes on visual recognition memory in Prader-Willi syndrome. Am J Med Genet (Neuropsychiatric Genet) 2001: 105: 71-75.
    • (2001) Am. J. Med. Genet. (Neuropsychiatric Genet) , vol.105 , pp. 71-75
    • Joseph, B.1    Egli, M.2    Sutcliffe, J.S.3    Thompson, T.4
  • 36
    • 0012526188 scopus 로고    scopus 로고
    • Behavioural phenotype associated with specific genetic disorders: Evidence from a population-based study of people with Prader-Willi syndrome
    • (in press)
    • Holland AJ, Whittington JE, Butler J, Webb T, Boer H, Clarke D. Behavioural phenotype associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome. Psych Med (in press).
    • Psych. Med.
    • Holland, A.J.1    Whittington, J.E.2    Butler, J.3    Webb, T.4    Boer, H.5    Clarke, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.