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93 results

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Page 1
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
Alpaslan M, Fastré E, Mestre S, van Haeringen A, Repetto GM, Keymolen K, Boon LM, Belva F, Giacalone G, Revencu N, Sznajer Y, Riches K, Keeley V, Mansour S, Gordon K, Martin-Almedina S, Dobbins S, Ostergaard P, Quere I, Brouillard P, Vikkula M. Alpaslan M, et al. Among authors: revencu n. Hum Mol Genet. 2024 Apr 26:ddae060. doi: 10.1093/hmg/ddae060. Online ahead of print. Hum Mol Genet. 2024. PMID: 38676400
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
[Multiple bladder diverticula caused by occipital horn syndrome].
Legros L, Revencu N, Nassogne MC, Wese FX, Feyaerts A. Legros L, et al. Among authors: revencu n. Arch Pediatr. 2015 Nov;22(11):1147-50. doi: 10.1016/j.arcped.2015.07.017. Epub 2015 Sep 16. Arch Pediatr. 2015. PMID: 26386812 French.
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.
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):558. Hum Genet. 2003. PMID: 14640120 No abstract available.
93 results