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The challenging follow-up of pregnancy in women with known thrombotic thrombocytopenic purpura: a single-center experience of a preemptive management protocol.
Hamroun A, Prouteau C, Lenain R, Roger C, Bauters A, Zawadzki C, Subtil D, Gibier JB, Stichelbout M, Coppo P, Lionet A, Maanaoui M, Hazzan M, Provôt F. Hamroun A, et al. Among authors: stichelbout m. J Nephrol. 2023 Dec;36(9):2519-2529. doi: 10.1007/s40620-023-01790-x. Epub 2023 Oct 11. J Nephrol. 2023. PMID: 37816989
Confirmation of risk of cancer in blepharocheilodontic syndrome.
Ghoumid J, Lejeune S, Renaud F, Stichelbout M, Petit F, Manouvrier-Hanu S. Ghoumid J, et al. Among authors: stichelbout m. Genet Med. 2020 Oct;22(10):1727-1728. doi: 10.1038/s41436-020-0849-7. Epub 2020 Jun 2. Genet Med. 2020. PMID: 32483297 Free article. No abstract available.
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Among authors: stichelbout m. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658
18 results