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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Among authors: bliek j. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments.
Hoovers JM, Kalikin LM, Johnson LA, Alders M, Redeker B, Law DJ, Bliek J, Steenman M, Benedict M, Wiegant J, Lengauer C, Taillon-Miller P, Schlessinger D, Edwards MC, Elledge SJ, Ivens A, Westerveld A, Little P, Mannens M, Feinberg AP. Hoovers JM, et al. Among authors: bliek j. Proc Natl Acad Sci U S A. 1995 Dec 19;92(26):12456-60. doi: 10.1073/pnas.92.26.12456. Proc Natl Acad Sci U S A. 1995. PMID: 8618920 Free PMC article.
Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors.
Mannens M, Alders M, Redeker B, Bliek J, Steenman M, Wiesmeyer C, de Meulemeester M, Ryan A, Kalikin L, Voûte T, De Kraker J, Hoovers J, Slater R, Feinberg A, Little P, Westerveld A. Mannens M, et al. Among authors: bliek j. Med Pediatr Oncol. 1996 Nov;27(5):490-4. doi: 10.1002/(SICI)1096-911X(199611)27:5<490::AID-MPO17>3.0.CO;2-E. Med Pediatr Oncol. 1996. PMID: 8827079 Review.
Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER. Cooper WN, et al. Among authors: bliek j. Eur J Hum Genet. 2005 Sep;13(9):1025-32. doi: 10.1038/sj.ejhg.5201463. Eur J Hum Genet. 2005. PMID: 15999116
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.
Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N. Scott RH, et al. Among authors: bliek j. J Med Genet. 2008 Feb;45(2):106-13. doi: 10.1136/jmg.2007.053207. Epub 2007 Oct 15. J Med Genet. 2008. PMID: 18245390
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