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Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
Lesca G, Olivieri C, Burnichon N, Pagella F, Carette MF, Gilbert-Dussardier B, Goizet C, Roume J, Rabilloud M, Saurin JC, Cottin V, Honnorat J, Coulet F, Giraud S, Calender A, Danesino C, Buscarini E, Plauchu H; French-Italian-Rendu-Osler Network. Lesca G, et al. Among authors: honnorat j. Genet Med. 2007 Jan;9(1):14-22. doi: 10.1097/gim.0b013e31802d8373. Genet Med. 2007. PMID: 17224686 Free article.
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F. Jeanne M, et al. Among authors: honnorat j. Am J Hum Genet. 2021 May 6;108(5):951-961. doi: 10.1016/j.ajhg.2021.04.004. Epub 2021 Apr 23. Am J Hum Genet. 2021. PMID: 33894126 Free PMC article.
Epidemiology of paraneoplastic neurologic syndromes and autoimmune encephalitides in France.
Hébert J, Riche B, Vogrig A, Muñiz-Castrillo S, Joubert B, Picard G, Rogemond V, Psimaras D, Alentorn A, Berzero G, Desestret V, Rabilloud M, Honnorat J. Hébert J, et al. Among authors: honnorat j. Neurol Neuroimmunol Neuroinflamm. 2020 Aug 26;7(6):e883. doi: 10.1212/NXI.0000000000000883. Print 2020 Nov. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32847939 Free PMC article.
541 results