메뉴 건너뛰기




Volumn 161, Issue 10, 2013, Pages 2481-2486

Prevalence of beckwith-wiedemann syndrome in North West of Italy

Author keywords

Beckwith Wiedemann syndrome; Clinical evaluation; Incidence; Molecular tests; Prevalence

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CDKN1C GENE; CHROMOSOME 11; CLINICAL ARTICLE; CONTROLLED STUDY; DISOMY; DNA METHYLATION; FEMALE; GENE MUTATION; HUMAN; ITALY; LIVE BIRTH; MALE; MEDICAL HISTORY; MOLECULAR IMPRINTING; MUTATOR GENE; PHYSICAL EXAMINATION; PREVALENCE; PRIORITY JOURNAL;

EID: 84884988329     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36080     Document Type: Article
Times cited : (109)

References (22)
  • 2
    • 84884975812 scopus 로고    scopus 로고
    • Registro nazionale malattie rare. Epidemiologia di 44 malformazioni congenite rare in Italia. Istituto Superiore di Sanità. Rapporti ISTISAN: 02/36, p 151. Available at Accessed September 20 2012.
    • Bianchi F, Taruscio D. 2002. Registro nazionale malattie rare. Epidemiologia di 44 malformazioni congenite rare in Italia. Istituto Superiore di Sanità. Rapporti ISTISAN: 02/36, p 151. Available at http://www.iss.it/binary/publ/publi/0236.1109328902.pdf Accessed September 20 2012.
    • (2002)
    • Bianchi, F.1    Taruscio, D.2
  • 4
    • 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
  • 5
    • 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
  • 12
    • 42649101672 scopus 로고    scopus 로고
    • MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment
    • Priolo M, Sparago A, Mammì C, Cerrato F, Laganà C, Riccio A. 2008. MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment. Eur J Hum Genet 16:565-571.
    • (2008) Eur J Hum Genet , vol.16 , pp. 565-571
    • Priolo, M.1    Sparago, A.2    Mammì, C.3    Cerrato, F.4    Laganà, C.5    Riccio, A.6
  • 15
    • 21644461973 scopus 로고    scopus 로고
    • Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis
    • Rump P, Zeegers MP, van Essen AJ. 2005. Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis. Am J Med Genet Part A 136A:95-104.
    • (2005) Am J Med Genet Part A , vol.136 A , pp. 95-104
    • Rump, P.1    Zeegers, M.P.2    van Essen, A.J.3
  • 17
    • 79952184110 scopus 로고
    • Beckwith-Wiedemann syndrome
    • Pagon RA, Bird TC, Dolan CR, Stephens K, editors.Seattle, WA: University of Washington.
    • Shuman C, Smith AC, Weksberg R. 1993-2000. Beckwith-Wiedemann syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews. Seattle, WA: University of Washington.
    • (1993) GeneReviews
    • Shuman, C.1    Smith, A.C.2    Weksberg, R.3
  • 18
    • 4444365791 scopus 로고    scopus 로고
    • Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
    • Sparago A, Cerrato F, Vernucci M, Ferrero GB, Silengo MC, Riccio A. 2004. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Nat Genet 36:958-960.
    • (2004) Nat Genet , vol.36 , pp. 958-960
    • Sparago, A.1    Cerrato, F.2    Vernucci, M.3    Ferrero, G.B.4    Silengo, M.C.5    Riccio, A.6
  • 22
    • 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.