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Volumn 65, Issue 2, 1996, Pages 133-136

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: Sex specific differences

Author keywords

Prader Willi syndrome; sex ratio; trisomy 15; uniparental disomy

Indexed keywords

ADULT; ARTICLE; DISEASE SEVERITY; DISOMY; FEEDING; FEMALE; GENE DELETION; HUMAN; HYPERPHAGIA; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROBABILITY; RETROSPECTIVE STUDY; SEX DIFFERENCE;

EID: 0029907547     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<133::AID-AJMG10>3.0.CO;2-R     Document Type: Article
Times cited : (60)

References (26)
  • 2
    • 0022462350 scopus 로고
    • Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
    • Butler MG, Meaney FJ, Palmer CG (1986): Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 23:793-809.
    • (1986) Am J Med Genet , vol.23 , pp. 793-809
    • Butler, M.G.1    Meaney, F.J.2    Palmer, C.G.3
  • 3
    • 0024371764 scopus 로고
    • Hypopigmentation: A common feature of the Prader-Labhart-Willi Syndrome
    • Butler MG (1989): Hypopigmentation: A common feature of the Prader-Labhart-Willi Syndrome. Am J Hum Genet 45:140-146.
    • (1989) Am J Hum Genet , vol.45 , pp. 140-146
    • Butler, M.G.1
  • 4
    • 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, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995): Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet 9:395-400.
    • (1995) Nature Genet , vol.9 , pp. 395-400
    • Buiting, K.1    Saitoh, S.2    Gross, S.3    Dittrich, B.4    Schwartz, S.5    Nicholls, R.D.6    Horsthemke, B.7
  • 6
    • 0026578525 scopus 로고
    • Monozygotic twining and Wiedemann-Beckwith syndrome
    • Clayton-Smith J, Read AP, Donnai D (1992): Monozygotic twining and Wiedemann-Beckwith syndrome. Am J Med Genet 42:633-637.
    • (1992) Am J Med Genet , vol.42 , pp. 633-637
    • Clayton-Smith, J.1    Read, A.P.2    Donnai, D.3
  • 7
    • 0029640958 scopus 로고
    • Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype
    • Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B (1995a): Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. Am J Hum Genet 56:328-329.
    • (1995) Am J Hum Genet , vol.56 , pp. 328-329
    • Gillessen-Kaesbach, G.1    Albrecht, B.2    Passarge, E.3    Horsthemke, B.4
  • 9
    • 0025360106 scopus 로고
    • Genetic imprinting: Review and relevance to human diseases
    • Hall JG (1990): Genetic imprinting: review and relevance to human diseases. Am J Hum Genet 46:857-873.
    • (1990) Am J Hum Genet , vol.46 , pp. 857-873
    • Hall, J.G.1
  • 11
    • 0028676108 scopus 로고
    • Genomic imprinting related to prenatal diagnosis
    • Kalousek DK, Barret I (1994): Genomic imprinting related to prenatal diagnosis. Prenat Diag 14:1191-1201.
    • (1994) Prenat Diag , vol.14 , pp. 1191-1201
    • Kalousek, D.K.1    Barret, I.2
  • 12
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA (1989): Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.M.1    Nicholls, R.D.2    Magenis, R.E.3    Graham Jr., J.M.4    Lalande, M.5    Latt, S.A.6
  • 13
    • 0028111398 scopus 로고
    • Molecular diagnosis of Prader-Willi syndrome: Parent of origin dependent methylation sites and non-isotopic detection of (CA)n Dinucleotide repeat polymorphisms
    • Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D (1994): Molecular diagnosis of Prader-Willi syndrome: Parent of origin dependent methylation sites and non-isotopic detection of (CA)n Dinucleotide repeat polymorphisms. Am J Med Genet 52:79-81.
    • (1994) Am J Med Genet , vol.52 , pp. 79-81
    • Lerer, I.1    Meiner, V.2    Pashut-Lavon, I.3    Abeliovich, D.4
  • 14
    • 0025869621 scopus 로고
    • Genomic imprinting, monozygous twinning, and X inactivation
    • Lubinsky MS, Hall JG (1991): Genomic imprinting, monozygous twinning, and X inactivation. Lancet 337:1288.
    • (1991) Lancet , vol.337 , pp. 1288
    • Lubinsky, M.S.1    Hall, J.G.2
  • 15
    • 0025173833 scopus 로고
    • Comparison of clinical features in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences
    • Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, Cohen R et al. (1990): Comparison of clinical features in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet 35:333-349.
    • (1990) Am J Med Genet , vol.35 , pp. 333-349
    • Magenis, R.E.1    Toth-Fejel, S.2    Allen, L.J.3    Black, M.4    Brown, M.G.5    Budden, S.6    Cohen, R.7
  • 18
    • 0027473988 scopus 로고
    • Multiplex PCR of three di-nucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
    • Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH (1993): Multiplex PCR of three di-nucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2:143-151.
    • (1993) Hum Mol Genet , vol.2 , pp. 143-151
    • Mutirangura, A.1    Greenberg, F.2    Butler, M.G.3    Malcolm, S.4    Nicholls, R.D.5    Chakravarti, A.6    Ledbetter, D.H.7
  • 19
    • 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 (1989): Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342:281-285.
    • (1989) Nature , vol.342 , pp. 281-285
    • Nicholls, R.D.1    Knoll, J.H.M.2    Butler, M.G.3    Karam, S.4    Lalande, M.5
  • 20
    • 0028964550 scopus 로고
    • Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome
    • Örstavik RE, Tommerup N, Eiklid K, rstavik KH (1995): Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome. Am J Med Genet 56:210-214.
    • (1995) Am J Med Genet , vol.56 , pp. 210-214
    • Örstavik, R.E.1    Tommerup, N.2    Eiklid, K.3    Rstavik, K.H.4
  • 21
    • 0000927260 scopus 로고
    • Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myotonieartigem Zustand im Neugeborenalter
    • Prader A, Labhart A, Willi H (1956): Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myotonieartigem Zustand im Neugeborenalter. Schweiz Med Wschr 86:1260-1261.
    • (1956) Schweiz Med Wschr , vol.86 , pp. 1260-1261
    • Prader, A.1    Labhart, A.2    Willi, H.3
  • 26
    • 0027937004 scopus 로고
    • Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomie fetuses and live-borns
    • Zaragoza MV, Jacobs PA, Hassold T (1994): Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomie fetuses and live-borns. Hum Genet 94:411-417.
    • (1994) Hum Genet , vol.94 , pp. 411-417
    • Zaragoza, M.V.1    Jacobs, P.A.2    Hassold, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.