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Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: missirian c. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097
Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.
Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H, Missirian C, Lacombe D, Bonneau D, Parent P, Aubert D, Hauck Y, Croquette MF, Toutain A, Mattei MG, Loiseau HA, David A, Vergnaud G. Giraudeau F, et al. Among authors: missirian c. J Med Genet. 2001 Feb;38(2):121-5. doi: 10.1136/jmg.38.2.121. J Med Genet. 2001. PMID: 11288712 Free PMC article. No abstract available.
Truncation of NHEJ1 in a patient with polymicrogyria.
Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Cantagrel V, et al. Among authors: missirian c. Hum Mutat. 2007 Apr;28(4):356-64. doi: 10.1002/humu.20450. Hum Mutat. 2007. PMID: 17191205
66 results