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Page 1
CDKN1C mutations: two sides of the same coin.
Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M. Eggermann T, et al. Among authors: prawitt d. Trends Mol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25. Trends Mol Med. 2014. PMID: 25262539 Review.
Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R. Eggermann T, et al. Among authors: prawitt d. Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.132. Epub 2013 Jul 3. Eur J Hum Genet. 2014. PMID: 23820480 Free PMC article. No abstract available.
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: prawitt d. 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.
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, Prawitt D, Maher ER, Mannens M, Riccio A, Weksberg R, Lapunzina P, Grønskov K, Mackay DJ, Eggermann T. Eggermann K, et al. Among authors: prawitt d. Eur J Hum Genet. 2016 Oct;24(10):1377-87. doi: 10.1038/ejhg.2016.45. Epub 2016 May 11. Eur J Hum Genet. 2016. PMID: 27165005 Free PMC article.
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: prawitt d. 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.
Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation.
Bohne F, Langer D, Martiné U, Eider CS, Cencic R, Begemann M, Elbracht M, Bülow L, Eggermann T, Zechner U, Pelletier J, Zabel BU, Enklaar T, Prawitt D. Bohne F, et al. Among authors: prawitt d. Clin Epigenetics. 2016 May 4;8:47. doi: 10.1186/s13148-016-0215-4. eCollection 2016. Clin Epigenetics. 2016. PMID: 27152123 Free PMC article.
Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.
Bens S, Kolarova J, Beygo J, Buiting K, Caliebe A, Eggermann T, Gillessen-Kaesbach G, Prawitt D, Thiele-Schmitz S, Begemann M, Enklaar T, Gutwein J, Haake A, Paul U, Richter J, Soellner L, Vater I, Monk D, Horsthemke B, Ammerpohl O, Siebert R. Bens S, et al. Among authors: prawitt d. Epigenomics. 2016 Jun;8(6):801-16. doi: 10.2217/epi-2016-0007. Epub 2016 Jun 20. Epigenomics. 2016. PMID: 27323310
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A. Beygo J, et al. Among authors: prawitt d. Hum Mol Genet. 2013 Feb 1;22(3):544-57. doi: 10.1093/hmg/dds465. Epub 2012 Oct 30. Hum Mol Genet. 2013. PMID: 23118352 Free PMC article.
62 results