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Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Lunati-Rozie A, Janin A, Faubert E, Nony S, Renoux C, Carcao MD, Fanen P, Funalot B, Mansour-Hendili L, Joly P. Lunati-Rozie A, et al. Among authors: carcao md. Br J Haematol. 2023 May;201(4):e46-e49. doi: 10.1111/bjh.18760. Epub 2023 Mar 16. Br J Haematol. 2023. PMID: 36928866 No abstract available.
Idiopathic pulmonary arterial hypertension - a unrecognized cause of high-shear high-flow haemostatic defects (otherwise referred to as acquired von Willebrand syndrome) in children.
Pelland-Marcotte MC, Humpl T, James PD, Rand ML, Bouskill V, Reyes JT, Bowman ML, Carcao MD. Pelland-Marcotte MC, et al. Among authors: carcao md. Br J Haematol. 2018 Oct;183(2):267-275. doi: 10.1111/bjh.15530. Epub 2018 Aug 23. Br J Haematol. 2018. PMID: 30141279 Free article.
Abnormal fibrinolysis recognized by thromboelastography in a case of severe bleeding with normal coagulation and platelet function, leads to detection of a novel SERPINF2 variant causing severe alpha-2-antiplasmin deficiency.
Egan G, Pluthero FG, Bouskill V, Hilliard P, Drury LJ, Carcao MD, Kahr WHA. Egan G, et al. Among authors: carcao md. Br J Haematol. 2019 Sep;186(6):e198-e201. doi: 10.1111/bjh.16077. Epub 2019 Jul 8. Br J Haematol. 2019. PMID: 31282989 Free article. No abstract available.
Intracranial haemorrhage in children and adolescents with severe haemophilia A or B - the impact of prophylactic treatment.
Andersson NG, Auerswald G, Barnes C, Carcao M, Dunn AL, Fijnvandraat K, Hoffmann M, Kavakli K, Kenet G, Kobelt R, Kurnik K, Liesner R, Mäkipernaa A, Manco-Johnson MJ, Mancuso ME, Molinari AC, Nolan B, Perez Garrido R, Petrini P, Platokouki HE, Shapiro AD, Wu R, Ljung R. Andersson NG, et al. Br J Haematol. 2017 Oct;179(2):298-307. doi: 10.1111/bjh.14844. Epub 2017 Jul 12. Br J Haematol. 2017. PMID: 28699675 Free article. Clinical Trial.
Simoctocog alfa (Nuwiq®) in previously untreated patients with severe haemophilia A-Final efficacy and safety results from the NuProtect study.
Mathias M, Abraham A, Belletrutti MJ, Carcao M, Carvalho M, Chambost H, Chan AKC, Dubey L, Ducore J, Gattens M, Gresele P, Gruel Y, Guillet B, Jiménez-Yuste V, Kitanovski L, Klukowska A, Lohade S, Mancuso ME, Oldenburg J, Pollio B, Sigaud M, Vilchevska K, Wu JKM, Jansen M, Belyanskaya L, Walter O, Knaub S, Neufeld EJ. Mathias M, et al. Eur J Haematol. 2023 Oct;111(4):544-552. doi: 10.1111/ejh.14040. Epub 2023 Jul 13. Eur J Haematol. 2023. PMID: 37439123
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