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Volumn 144, Issue 8, 1996, Pages 786-792

Uniparental disomy and genomic imprinting - Relevance to rare dysmorphic syndromes;Uniparentale Disomie und genomische Pragung (genomic imprinting)

Author keywords

genomic imprinting; review; uniparental disomy

Indexed keywords

BECKWITH WIEDEMANN SYNDROME; CONGENITAL MALFORMATION; DISOMY; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; PRADER WILLI SYNDROME; REVIEW;

EID: 0029838447     PISSN: 00269298     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (45)
  • 3
    • 0026690729 scopus 로고
    • Uniparental disomy: A novel mechanism for thalassemia major
    • Beldjord Ch, Henry I, Bennani Ch, Vanhaeke D, Labie D (1992) Uniparental disomy: a novel mechanism for thalassemia major. Blood 80: 287-289
    • (1992) Blood , vol.80 , pp. 287-289
    • Beldjord, Ch.1    Henry, I.2    Bennani, Ch.3    Vanhaeke, D.4    Labie, D.5
  • 5
    • 0016153298 scopus 로고
    • Hétérozygotie et homozygotie pour un inversion péricentrique du 3 humain
    • Betz A, Turleau C, Grouchy J de (1974) Hétérozygotie et homozygotie pour un inversion péricentrique du 3 humain. Ann Genet 17: 77-80
    • (1974) Ann Genet , vol.17 , pp. 77-80
    • Betz, A.1    Turleau, C.2    De Grouchy, J.3
  • 7
    • 0020443998 scopus 로고
    • A homozygote for pericentric inversion of chromosome 4
    • Carpenter NJ, Say B, Barber ND (1982) A homozygote for pericentric inversion of chromosome 4. J Med Genet 19: 469-471
    • (1982) J Med Genet , vol.19 , pp. 469-471
    • Carpenter, N.J.1    Say, B.2    Barber, N.D.3
  • 8
    • 0028108657 scopus 로고
    • Genetic imprinting in the mouse: Implications for gene regulation
    • Cattanach BM, Jones J (1994) Genetic imprinting in the mouse: implications for gene regulation. J Inherit Metab Dis 17: 403-120
    • (1994) J Inherit Metab Dis , vol.17 , pp. 403-1120
    • Cattanach, B.M.1    Jones, J.2
  • 13
    • 0018939994 scopus 로고
    • A new genetic concept: Uniparental disomy and its potential effect, isodisomy
    • Engel E (1980) A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6: 137-143
    • (1980) Am J Med Genet , vol.6 , pp. 137-143
    • Engel, E.1
  • 14
    • 0028470672 scopus 로고
    • Beckwith-Wiedemann syndrome
    • Elliott M, Maher ER (1994) Beckwith-Wiedemann syndrome. J Med Genet 31: 560-564
    • (1994) J Med Genet , vol.31 , pp. 560-564
    • Elliott, M.1    Maher, E.R.2
  • 15
    • 0025360106 scopus 로고
    • Genomic imprinting: Review and relevance to human diseases
    • Hall JG (1990) Genomic 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
  • 16
    • 0029077269 scopus 로고
    • Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
    • Harrison K, Eisenger K, Kwame A-Y, Brown S (1995) Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet 58: 147-151
    • (1995) Am J Med Genet , vol.58 , pp. 147-151
    • Harrison, K.1    Eisenger, K.2    Kwame, A.-Y.3    Brown, S.4
  • 19
    • 0028968840 scopus 로고
    • A search for uniparental disomy in carriers of supernumerary marker chromosomes
    • James RS, Temple IK, Dennis IK, Crolla JA (1995) A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 3: 21-26
    • (1995) Eur J Hum Genet , vol.3 , pp. 21-26
    • James, R.S.1    Temple, I.K.2    Dennis, I.K.3    Crolla, J.A.4
  • 22
    • 0344691603 scopus 로고
    • Unusual clinical presentation associated with uniparental disomy of chromosome 10 in a child presymptomatic for multiple endocrine neoplasia type 2A
    • Kousseff BG, Gallardo LA, Mueller OT (1992) Unusual clinical presentation associated with uniparental disomy of chromosome 10 in a child presymptomatic for multiple endocrine neoplasia type 2A. Am J Hum Genet [Suppl] 51: 863
    • (1992) Am J Hum Genet [Suppl] , vol.51 , pp. 863
    • Kousseff, B.G.1    Gallardo, L.A.2    Mueller, O.T.3
  • 23
    • 0028867372 scopus 로고
    • Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7
    • 20a. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK (1995) Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7. J Med Genet 32: 871-875
    • (1995) J Med Genet , vol.32 , pp. 871-875
    • Langlois, S.1    Yong, S.L.2    Wilson, R.D.3    Kwong, L.C.4    Kalousek, D.K.5
  • 26
    • 0023629482 scopus 로고
    • Variation in the frequency and type of sperm chromosomal abnormalities among normal men
    • Martin RH, Rademaker AW, Hildebrand K, Long-Simpson L, Yamamoto J (1987) Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 77: 108-114
    • (1987) Hum Genet , vol.77 , pp. 108-114
    • Martin, R.H.1    Rademaker, A.W.2    Hildebrand, K.3    Long-Simpson, L.4    Yamamoto, J.5
  • 31
    • 0027202608 scopus 로고
    • Exclusively paternal X chromosomes in a girl with short stature and gonadal dysfunction
    • Schinzel A, Robinson WP, Binkert F, Torresani T, Werder A (1993) Exclusively paternal X chromosomes in a girl with short stature and gonadal dysfunction. Hum Genet 92: 175-178
    • (1993) Hum Genet , vol.92 , pp. 175-178
    • Schinzel, A.1    Robinson, W.P.2    Binkert, F.3    Torresani, T.4    Werder, A.5
  • 33
    • 0029068235 scopus 로고
    • UPD 13: No indication of maternal or paternal imprinting of genes on chromosome 13
    • Slater H, Shaw JH, Bankier A, Forrest SM (1995) UPD 13: no indication of maternal or paternal imprinting of genes on chromosome 13. J Med Genet 33: 493
    • (1995) J Med Genet , vol.33 , pp. 493
    • Slater, H.1    Shaw, J.H.2    Bankier, A.3    Forrest, S.M.4
  • 34
    • 0028069956 scopus 로고
    • Maternal uniparental disomy of chromosome 13 in a phenotypically normal child
    • Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM (1994) Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. J Med Genet 31: 644-646
    • (1994) J Med Genet , vol.31 , pp. 644-646
    • Slater, H.1    Shaw, J.H.2    Dawson, G.3    Bankier, A.4    Forrest, S.M.5
  • 36
    • 0029030255 scopus 로고
    • Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q)
    • Stallard R, Krueger S, James RS, Schwartz S (1995) Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q). Am J Med Genet 57: 14-18
    • (1995) Am J Med Genet , vol.57 , pp. 14-18
    • Stallard, R.1    Krueger, S.2    James, R.S.3    Schwartz, S.4
  • 37
    • 0344691629 scopus 로고
    • Uniparental disomy as an explanation of presumptive low penetrance
    • 32a. Sulisalo T, de la Chapelle A, Kaitila I (1994) Uniparental disomy as an explanation of presumptive low penetrance. Am J Hum Genet 55: Suppl: 27
    • (1994) Am J Hum Genet , vol.55 , Issue.SUPPL. , pp. 27
    • Sulisalo, T.1    De La Chapelle, A.2    Kaitila, I.3
  • 39
    • 0344691599 scopus 로고
    • Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q)
    • Tomkins DJ, Waye JS, Whelan DT, Cox DW (1994) Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q). Am J Hum Genet [Suppl] 55: 685
    • (1994) Am J Hum Genet [Suppl] , vol.55 , pp. 685
    • Tomkins, D.J.1    Waye, J.S.2    Whelan, D.T.3    Cox, D.W.4
  • 40
    • 0023955134 scopus 로고
    • Editorial: Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes
    • Warburton D (1988) Editorial: uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes. Am J Hum Genet 42: 215-216
    • (1988) Am J Hum Genet , vol.42 , pp. 215-216
    • Warburton, D.1
  • 44
    • 0028925188 scopus 로고
    • An audit of trisomy 16 in man
    • Wolstenholme J (1995) An audit of trisomy 16 in man. Prenat Diagn 15: 109-121
    • (1995) Prenat Diagn , vol.15 , pp. 109-121
    • Wolstenholme, J.1
  • 45
    • 0023103378 scopus 로고
    • Chromosome analysis of human oocytes recovered from preovulatory follicles in stimulated cycles
    • Wramsby H, Fredga K, Liedholm P (1987) Chromosome analysis of human oocytes recovered from preovulatory follicles in stimulated cycles. N Engl J Med 316: 121-124
    • (1987) N Engl J Med , vol.316 , pp. 121-124
    • Wramsby, H.1    Fredga, K.2    Liedholm, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.