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99 results

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Page 1
Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
Schaballie H, Renard M, Vermylen C, Scheers I, Revencu N, Regal L, Cassiman D, Sevenants L, Hoffman I, Corveleyn A, Bordon V, Haerynck F, Allegaert K, De Boeck K, Roskams T, Boeckx N, Bossuyt X, Meyts I. Schaballie H, et al. Among authors: revencu n. Eur J Pediatr. 2013 May;172(5):613-22. doi: 10.1007/s00431-012-1908-0. Epub 2013 Jan 12. Eur J Pediatr. 2013. PMID: 23315050
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D. Banka S, et al. Among authors: revencu n. Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30. Eur J Hum Genet. 2012. PMID: 22126750 Free PMC article.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM. Reynhout S, et al. Among authors: revencu n. Am J Hum Genet. 2019 Feb 7;104(2):357. doi: 10.1016/j.ajhg.2019.01.003. Am J Hum Genet. 2019. PMID: 30735662 Free PMC article. No abstract available.
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.
Vanakker O, Vilain C, Janssens K, Van der Aa N, Smits G, Bandelier C, Blaumeiser B, Bulk S, Caberg JH, De Leener A, De Rademaeker M, de Ravel T, Desir J, Destree A, Dheedene A, Gaillez S, Grisart B, Hellin AC, Janssens S, Keymolen K, Menten B, Pichon B, Ravoet M, Revencu N, Rombout S, Staessens C, Van Den Bogaert A, Van Den Bogaert K, Vermeesch JR, Kooy F, Sznajer Y, Devriendt K. Vanakker O, et al. Among authors: revencu n. Eur J Med Genet. 2014 Mar;57(4):151-6. doi: 10.1016/j.ejmg.2014.02.002. Epub 2014 Feb 15. Eur J Med Genet. 2014. PMID: 24534801 Review.
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: revencu n. Hum Genet. 2003 Nov;113(6):556. Hum Genet. 2003. PMID: 14640113 No abstract available.
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: revencu n. Hum Genet. 2003 Nov;113(6):557. Hum Genet. 2003. PMID: 14640117 No abstract available.
Gene symbol: IRF6. Disease: Van der Woude syndrome.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Ghassibe M, et al. Among authors: revencu n. Hum Genet. 2003 Nov;113(6):557. Hum Genet. 2003. PMID: 14640119 No abstract available.
99 results