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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 2
1988 1
1989 1
1990 2
1991 1
1992 1
1993 1
1994 2
1995 1
1996 2
1997 1
1998 2
1999 2
2000 1
2001 1
2004 2
2005 1
2006 2
2007 2
2008 4
2009 5
2010 2
2014 1
2015 1
2016 4
2017 1
2018 2
2019 4
2020 1
2021 1
2022 5
2023 2
2024 0

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54 results

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Page 1
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.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Among authors: bliek j. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z. Eggermann T, et al. Among authors: bliek j. Clin Epigenetics. 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. Clin Epigenetics. 2022. PMID: 35296332 Free PMC article.
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S. Albersen M, et al. Among authors: bliek j. J Inherit Metab Dis. 2023 Jan;46(1):116-128. doi: 10.1002/jimd.12571. Epub 2022 Oct 26. J Inherit Metab Dis. 2023. PMID: 36256460 Free PMC article.
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Mackay D, et al. Among authors: bliek j. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.
Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization.
Hol JA, Kuiper RP, van Dijk F, Waanders E, van Peer SE, Koudijs MJ, Bladergroen R, van Reijmersdal SV, Morgado LM, Bliek J, Lombardi MP, Hopman S, Drost J, de Krijger RR, van den Heuvel-Eibrink MM, Jongmans MCJ. Hol JA, et al. Among authors: bliek j. J Clin Oncol. 2022 Jun 10;40(17):1892-1902. doi: 10.1200/JCO.21.02510. Epub 2022 Mar 1. J Clin Oncol. 2022. PMID: 35230882 Free PMC article.
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P. Eggermann T, et al. Among authors: bliek j. Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508573 Free PMC article. Review.
Epigenotype-phenotype correlations in Silver-Russell syndrome.
Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM. Wakeling EL, et al. Among authors: bliek j. J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685669 Free PMC article.
Multiple linear syringocystadenoma papilliferum.
de Bliek JP, Starink TM. de Bliek JP, et al. J Eur Acad Dermatol Venereol. 1999 Jan;12(1):74-6. doi: 10.1111/j.1468-3083.1999.tb00820.x. J Eur Acad Dermatol Venereol. 1999. PMID: 10188162 No abstract available.
54 results