메뉴 건너뛰기




Volumn 137 A, Issue 1, 2005, Pages 16-21

Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband

Author keywords

Causal heterogeneity; Familial aggregation

Indexed keywords

ABDOMINAL WALL DEFECT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; COMPLEX FORMATION; DISEASE TRANSMISSION; GENE MUTATION; GENE SEGREGATION; GENETIC HETEROGENEITY; HUMAN; HYPOGLYCEMIA; INHERITANCE; MACROGLOSSIA; MACROSOMIA; MAJOR CLINICAL STUDY; MOLECULAR BIOLOGY; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 23344432130     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30827     Document Type: Article
Times cited : (9)

References (24)
  • 1
    • 0016355478 scopus 로고
    • A new look at the statistical model identification
    • Akaike H. 1974. A new look at the statistical model identification. IEEE Trans Automat Control 19:716-723.
    • (1974) IEEE Trans Automat Control , vol.19 , pp. 716-723
    • Akaike, H.1
  • 2
    • 0035935616 scopus 로고    scopus 로고
    • Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome
    • Barr CL, Best L, Weksberg R. 2001. Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome. Am J Med Genet 104:120-126.
    • (2001) Am J Med Genet , vol.104 , pp. 120-126
    • Barr, C.L.1    Best, L.2    Weksberg, R.3
  • 3
    • 0014119078 scopus 로고
    • A practical classification of newborn infants by weight and gestational age
    • Battaglia FC, Lubchenco LO. 1967. A practical classification of newborn infants by weight and gestational age. J Pediatr 71:159-163.
    • (1967) J Pediatr , vol.71 , pp. 159-163
    • Battaglia, F.C.1    Lubchenco, L.O.2
  • 4
    • 0019410039 scopus 로고
    • Wiedemann-Beckwith syndrome: Autosomal-dominant inheritance in a family
    • Best LG, Hoekstra RE. 1981. Wiedemann-Beckwith syndrome: Autosomal-dominant inheritance in a family. Am J Med Genet 9:291-299.
    • (1981) Am J Med Genet , vol.9 , pp. 291-299
    • Best, L.G.1    Hoekstra, R.E.2
  • 5
    • 0035283019 scopus 로고    scopus 로고
    • Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
    • Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM. 2001. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet 10:467-476.
    • (2001) Hum Mol Genet , vol.10 , pp. 467-476
    • Bliek, J.1    Maas, S.M.2    Ruijter, J.M.3    Hennekam, R.C.4    Alders, M.5    Westerveld, A.6    Mannens, M.M.7
  • 6
    • 0031940675 scopus 로고    scopus 로고
    • Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry
    • DeBaun MR, Tucker MA. 1998. Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry. J Pediatr 132:398-400.
    • (1998) J Pediatr , vol.132 , pp. 398-400
    • DeBaun, M.R.1    Tucker, M.A.2
  • 7
    • 0029816224 scopus 로고    scopus 로고
    • Screening for Wilms' tumor in children with high-risk congenital syndromes: Considerations for an intervention trial
    • DeBaun MR, Brown M, Kessler L. 1996. Screening for Wilms' tumor in children with high-risk congenital syndromes: Considerations for an intervention trial. Med Pediatric Oncol 27:415-421.
    • (1996) Med Pediatric Oncol , vol.27 , pp. 415-421
    • DeBaun, M.R.1    Brown, M.2    Kessler, L.3
  • 8
    • 0036182963 scopus 로고    scopus 로고
    • Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann Syndrome with cancer and birth defects
    • DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP. 2002. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann Syndrome with cancer and birth defects. Am J Hum Genet 70:604-611.
    • (2002) Am J Hum Genet , vol.70 , pp. 604-611
    • Debaun, M.R.1    Niemitz, E.L.2    McNeil, D.E.3    Brandenburg, S.A.4    Lee, M.P.5    Feinberg, A.P.6
  • 9
    • 0028124711 scopus 로고
    • Clinical features and natural history of Beckwith-Wiedemann syndrome: Presentation of 74 new cases
    • Elliott M, Bayly R, Cole T, Temple IK, Maher ER. 1994. Clinical features and natural history of Beckwith-Wiedemann syndrome: Presentation of 74 new cases. Clin Genet 46:168-174.
    • (1994) Clin Genet , vol.46 , pp. 168-174
    • Elliott, M.1    Bayly, R.2    Cole, T.3    Temple, I.K.4    Maher, E.R.5
  • 10
    • 0027248119 scopus 로고
    • Variance components/major locus likelihood approximation for quantitative, polychotomous, and multivariate data
    • Hasstedt SJ. 1993. Variance components/major locus likelihood approximation for quantitative, polychotomous, and multivariate data. Genet Epidemiol 10:145-158.
    • (1993) Genet Epidemiol , vol.10 , pp. 145-158
    • Hasstedt, S.J.1
  • 15
    • 0033609117 scopus 로고    scopus 로고
    • Loss of imprinting of a partenally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemannn syndrome and is independent of insulin-like growth factor II imprinting
    • Lee MP, DeBaun MR, Kohzoh M, Galonek H, Brandenburg S, Oshimuira M, Feinberg AP. 1999. Loss of imprinting of a partenally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemannn syndrome and is independent of insulin-like growth factor II imprinting. Proc Natl Acad Sci 96:5203-5208.
    • (1999) Proc Natl Acad Sci , vol.96 , pp. 5203-5208
    • Lee, M.P.1    DeBaun, M.R.2    Kohzoh, M.3    Galonek, H.4    Brandenburg, S.5    Oshimuira, M.6    Feinberg, A.P.7
  • 16
    • 0016389956 scopus 로고
    • Autosomal dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome
    • Lubinsky M, Herrmann J, Kosseff AL, Opitz JM. 1974. Autosomal dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome. Lancet 132:932.
    • (1974) Lancet , vol.132 , pp. 932
    • Lubinsky, M.1    Herrmann, J.2    Kosseff, A.L.3    Opitz, J.M.4
  • 17
    • 0032580377 scopus 로고    scopus 로고
    • Interval estimation for the difference between independent proportions: Comparison of eleven methods
    • Newcombe RG. 1998. Interval estimation for the difference between independent proportions: Comparison of eleven methods. Stat Med 17:873-890.
    • (1998) Stat Med , vol.17 , pp. 873-890
    • Newcombe, R.G.1
  • 18
    • 0022470737 scopus 로고
    • The Wiedemann-Beckwith syndrome: Pedigree studies on five families with evidence for autosomal dominant inhteritance with variable expressivity
    • Niikawa N, Ishikiriyama S, Takahashi S, Inagawa A, Tonoki H, Ohta Y, Hase N, Kamei T, Kajii T. 1986. The Wiedemann-Beckwith syndrome: Pedigree studies on five families with evidence for autosomal dominant inhteritance with variable expressivity. Am J Med Genet 24:41-55.
    • (1986) Am J Med Genet , vol.24 , pp. 41-55
    • Niikawa, N.1    Ishikiriyama, S.2    Takahashi, S.3    Inagawa, A.4    Tonoki, H.5    Ohta, Y.6    Hase, N.7    Kamei, T.8    Kajii, T.9
  • 19
    • 0022910322 scopus 로고
    • Wiedemann-Beckwith syndrome: Presentation of clinical and cytogenetic data on 22 new cases and review of the literature
    • Pettenati MJ, Haines JL, Higgins RR, Wppner RS, Palmer CG, Weaver DD. 1986. Wiedemann-Beckwith syndrome: Presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 74:143-154.
    • (1986) Hum Genet , vol.74 , pp. 143-154
    • Pettenati, M.J.1    Haines, J.L.2    Higgins, R.R.3    Wppner, R.S.4    Palmer, C.G.5    Weaver, D.D.6
  • 22
    • 0017674140 scopus 로고
    • Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel
    • Sommer A, Cutler EA, Cohen BL, Harper D, Backes C. 1977. Familial occurrence of the Wiedemann-Beckwith syndrome and persistent fontanel. Am J Med Genet 1:59-63.
    • (1977) Am J Med Genet , vol.1 , pp. 59-63
    • Sommer, A.1    Cutler, E.A.2    Cohen, B.L.3    Harper, D.4    Backes, C.5
  • 23
    • 0019165476 scopus 로고
    • Weight, length and head circumference of the newborn infant and their relationship to maternal and infant factors. Standards for intrauterine growth
    • Walli R, Stettler T, Largo RH, Fanconi A, Prader A. 1980. Weight, length and head circumference of the newborn infant and their relationship to maternal and infant factors. Standards for intrauterine growth. Helv Paediatr Acta 35:397-418.
    • (1980) Helv Paediatr Acta , vol.35 , pp. 397-418
    • Walli, R.1    Stettler, T.2    Largo, R.H.3    Fanconi, A.4    Prader, A.5
  • 24
    • 0031031959 scopus 로고    scopus 로고
    • Frequency of Wiedemann-Beckwith syndrome in Germany; rate of hemihyperplasia and of tumours in affected children
    • Wiedemann HR. 1997. Frequency of Wiedemann-Beckwith syndrome in Germany; rate of hemihyperplasia and of tumours in affected children. Eur J Pediatr 156:251.
    • (1997) Eur J Pediatr , vol.156 , pp. 251
    • Wiedemann, H.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.