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Year Number of Results
1995 1
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1998 2
1999 1
2000 3
2001 1
2002 2
2003 2
2004 4
2005 4
2006 4
2007 1
2008 2
2009 1
2010 3
2011 1
2012 3
2013 3
2014 3
2015 2
2016 6
2017 5
2018 5
2020 3
2022 4
2024 2
2025 0

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63 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: 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.
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.
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.
Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, Eggermann T, Beygo J, Buiting K, Tümer Z; Nomenclature group of the European Network for Human Congenital Imprinting Disorders. Monk D, et al. Among authors: prawitt d. Epigenetics. 2018;13(2):117-121. doi: 10.1080/15592294.2016.1264561. Epub 2018 Jan 25. Epigenetics. 2018. PMID: 27911167 Free PMC article. Review.
TRPM5 regulates glucose-stimulated insulin secretion.
Brixel LR, Monteilh-Zoller MK, Ingenbrandt CS, Fleig A, Penner R, Enklaar T, Zabel BU, Prawitt D. Brixel LR, et al. Among authors: prawitt d. Pflugers Arch. 2010 Jun;460(1):69-76. doi: 10.1007/s00424-010-0835-z. Pflugers Arch. 2010. PMID: 20393858 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: 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.
Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.
van der Kaay DCM, Rochtus A, Binder G, Kurth I, Prawitt D, Netchine I, Johannsson G, Hokken-Koelega ACS, Elbracht M, Eggermann T. van der Kaay DCM, et al. Among authors: prawitt d. Endocr Connect. 2022 Oct 10;11(11):e220277. doi: 10.1530/EC-22-0277. Print 2022 Nov 1. Endocr Connect. 2022. PMID: 36064195 Free PMC article. Review.
Oncogene-blocking therapies: new insights from conditional mouse tumor models.
Hengstler JG, Bockamp EO, Hermes M, Brulport M, Bauer A, Schormann W, Schiffer IB, Hausherr C, Eshkind L, Antunes C, Franzen A, Krishnamurthi K, Lausch E, Lessig R, Chakrabarti T, Prawitt D, Zabel B, Spangenberg C. Hengstler JG, et al. Among authors: prawitt d. Curr Cancer Drug Targets. 2006 Nov;6(7):603-12. doi: 10.2174/156800906778742488. Curr Cancer Drug Targets. 2006. PMID: 17100566 Review.
63 results