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Heterozygous α1-antitrypsin Z allele mutation in presumed healthy donor livers used for transplantation.
Roelandt P, Dobbels P, Komuta M, Corveleyn A, Emonds MP, Roskams T, Aerts R, Monbaliu D, Libbrecht L, Laleman W, Verslype C, Van Steenbergen W, van der Merwe S, Pirenne J, Nevens F, Cassiman D. Roelandt P, et al. Among authors: corveleyn a. Eur J Gastroenterol Hepatol. 2013 Nov;25(11):1335-9. doi: 10.1097/MEG.0b013e32836171c4. Eur J Gastroenterol Hepatol. 2013. PMID: 23660934
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: corveleyn a. 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
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study; Devriendt K, Breckpot J. Verheije R, et al. Among authors: corveleyn a. Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5. Eur J Hum Genet. 2019. PMID: 30291340 Free PMC article.
Successful hematopoietic stem cell transplantation for myelofibrosis in an adult with warts-hypogammaglobulinemia-immunodeficiency-myelokathexis syndrome.
Moens L, Frans G, Bosch B, Bossuyt X, Verbinnen B, Poppe W, Boeckx N, Slatter M, Brusselmans C, Diaz G, Tousseyn T, Flipts H, Corveleyn A, Dierickx D, Meyts I. Moens L, et al. Among authors: corveleyn a. J Allergy Clin Immunol. 2016 Nov;138(5):1485-1489.e2. doi: 10.1016/j.jaci.2016.04.057. Epub 2016 Jul 12. J Allergy Clin Immunol. 2016. PMID: 27484033 No abstract available.
66 results