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Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.
Frans G, Moens L, Schaballie H, Van Eyck L, Borgers H, Wuyts M, Dillaerts D, Vermeulen E, Dooley J, Grimbacher B, Cant A, Declerck D, Peumans M, Renard M, De Boeck K, Hoffman I, François I, Liston A, Claessens F, Bossuyt X, Meyts I. Frans G, et al. Among authors: hoffman i. J Allergy Clin Immunol. 2014 Nov;134(5):1209-13.e6. doi: 10.1016/j.jaci.2014.05.044. Epub 2014 Jul 18. J Allergy Clin Immunol. 2014. PMID: 25042743 Free PMC article. No abstract available.
Defining thresholds of antibody levels improves diagnosis of celiac disease.
Vermeersch P, Geboes K, Mariën G, Hoffman I, Hiele M, Bossuyt X. Vermeersch P, et al. Among authors: hoffman i. Clin Gastroenterol Hepatol. 2013 Apr;11(4):398-403; quiz e32. doi: 10.1016/j.cgh.2012.10.025. Epub 2012 Oct 25. Clin Gastroenterol Hepatol. 2013. PMID: 23103822
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: hoffman i. 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
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome.
Bucciol G, Cassiman D, Roskams T, Renard M, Hoffman I, Witters P, Schrijvers R, Schaballie H, Bosch B, Putti MC, Gheysens O, Knops N, Gewillig M, Mekahli D, Pirenne J, Meyts I. Bucciol G, et al. Among authors: hoffman i. Orphanet J Rare Dis. 2018 May 2;13(1):69. doi: 10.1186/s13023-018-0818-2. Orphanet J Rare Dis. 2018. PMID: 29716638 Free PMC article.
615 results