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Volumn 14, Issue , 2009, Pages 20-28

Genetic imprinting: The paradigm of prader-willi and angelman syndromes

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Indexed keywords

GROWTH HORMONE;

EID: 65549127199     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000207473     Document Type: Conference Paper
Times cited : (37)

References (25)
  • 1
    • 0016426316 scopus 로고
    • Parthenogenic origin of benign ovarian teratomas
    • Linder D, McCaw BK, Hecht F: Parthenogenic origin of benign ovarian teratomas. N Engl J Med 1975; 292:63-66.
    • (1975) N Engl J Med , vol.292 , pp. 63-66
    • Linder, D.1    McCaw, B.K.2    Hecht, F.3
  • 2
    • 0017696835 scopus 로고
    • Androgenetic origin of hydatidiform mole
    • Kajii T, Ohama K: Androgenetic origin of hydatidiform mole. Nature 1977;268:633-634.
    • (1977) Nature , vol.268 , pp. 633-634
    • Kajii, T.1    Ohama, K.2
  • 3
    • 0021139084 scopus 로고
    • Completion of mouse embryogenesis requires both the maternal and paternal genomes
    • McGrath J, Solter D: Completion of mouse embryogenesis requires both the maternal and paternal genomes. Cell 1984;37:179-183.
    • (1984) Cell , vol.37 , pp. 179-183
    • McGrath, J.1    Solter, D.2
  • 4
    • 0022391691 scopus 로고
    • Differential activity of maternally and paternally derived chromosome regions in mice
    • Cattanach BM, Kirk M: Differential activity of maternally and paternally derived chromosome regions in mice. Nature 1985;315:496-498.
    • (1985) Nature , vol.315 , pp. 496-498
    • Cattanach, B.M.1    Kirk, M.2
  • 5
    • 0036845254 scopus 로고    scopus 로고
    • Conrad Hal Waddington: The last Renaissance biologist?
    • Slack JM: Conrad Hal Waddington: the last Renaissance biologist? Nat Rev Genet 2002;3:889- 895.
    • (2002) Nat Rev Genet , vol.3 , pp. 889-895
    • Slack, J.M.1
  • 6
    • 34548138278 scopus 로고    scopus 로고
    • Epigenetics: A historical overview
    • Holliday R: Epigenetics: a historical overview. Epigenetics 2006;1:76-80.
    • (2006) Epigenetics , vol.1 , pp. 76-80
    • Holliday, R.1
  • 7
    • 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
  • 8
    • 0035839126 scopus 로고    scopus 로고
    • Epigenetic reprogramming in mammalian development
    • Reik W, Dean W, Walter J : Epigenetic reprogramming in mammalian development. Science 2001; 293:1089-1093.
    • (2001) Science , vol.293 , pp. 1089-1093
    • Reik, W.1    Dean, W.2    Walter, J.3
  • 10
    • 0024440608 scopus 로고
    • Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome
    • Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M : Genetic imprinting suggested by maternal 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
  • 13
    • 0031012849 scopus 로고    scopus 로고
    • Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15:70-73. Erratum in: Nat Genet 1997;15:411.
    • Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15:70-73. Erratum in: Nat Genet 1997;15:411.
  • 14
    • 0033651946 scopus 로고    scopus 로고
    • Prader-Willi and Angelman syndromes: Sister imprinted disorders
    • Cassidy SB, Dykens E, Williams CA: Prader-Willi and 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
    • 34547925220 scopus 로고    scopus 로고
    • Construction and evolution of imprinted loci in mammals
    • Hore TA, Rapkins RW, Graves JA: Construction and evolution of imprinted loci in mammals. Trends Genet 2007;23:440-448.
    • (2007) Trends Genet , vol.23 , pp. 440-448
    • Hore, T.A.1    Rapkins, R.W.2    Graves, J.A.3
  • 16
    • 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 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    Clarke, D.5    Boer, H.6
  • 17
    • 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
  • 18
    • 41849091898 scopus 로고    scopus 로고
    • Review of 64 cases of death in children with Prader-Willi syndrome (PWS)
    • Tauber M, Diene G, Molinas C, Hébert M: Review of 64 cases of death in children with Prader-Willi syndrome (PWS). Am J Med Genet 2008;146A:881- 887.
    • (2008) Am J Med Genet , vol.146 A , pp. 881-887
    • Tauber, M.1    Diene, G.2    Molinas, C.3    Hébert, M.4
  • 19
    • 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
  • 20
    • 0037328861 scopus 로고    scopus 로고
    • Angelman syndrome: A review of the clinical and genetic aspects
    • Clayton-Smith J, Laan L: Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003;40:87-95.
    • (2003) J Med Genet , vol.40 , pp. 87-95
    • Clayton-Smith, J.1    Laan, L.2
  • 23
    • 0035371487 scopus 로고    scopus 로고
    • Angelman syndrome: Mimicking conditions and phenotypes
    • Williams CA, Lossie A, Driscoll D : Angelman syndrome: mimicking conditions and phenotypes. Am J Med Genet 2001;101:59-64.
    • (2001) Am J Med Genet , vol.101 , pp. 59-64
    • Williams, C.A.1    Lossie, A.2    Driscoll, D.3
  • 24
    • 34247641061 scopus 로고    scopus 로고
    • Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    • Zweier C, Peippo MM, Hoyer J, et al: Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007;80: 994-1001.
    • (2007) Am J Hum Genet , vol.80 , pp. 994-1001
    • Zweier, C.1    Peippo, M.M.2    Hoyer, J.3
  • 25
    • 41549149493 scopus 로고    scopus 로고
    • SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
    • Gilfillan GD, Selmer KK, Roxrud I, et al: SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 2008;82:1003-1010.
    • (2008) Am J Hum Genet , vol.82 , pp. 1003-1010
    • Gilfillan, G.D.1    Selmer, K.K.2    Roxrud, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.