Centre hospitalier universitaire (CHU) d'Angers

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile (2022) Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, et al. Journal article Characteristics and outcome of patients with low-/intermediate-risk acute promyelocytic leukemia treated with arsenic trioxide: an international collaborative (2021) Kayser S, Schlenk RF, Lebon D, Carre M, Goetze KS, Stoelzel F, Berceanu A, et al. Journal article Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) (2020) Vera G, Sorlin A, Delplancq G, Lecoquierre F, Brasseur-Daudruy M, Petit F, Smol T, et al. Journal article CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, et al. Journal article CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019) Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al. Conference contribution Combined antifungal therapy is superior to monotherapy in pulmonary scedosporiosis in cystic fibrosis (2019) Schwarz C, Brandt C, Melichar V, Runge C, Heuer E, Sahly H, Schebek M, et al. Journal article De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity (2018) Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, et al. Journal article Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy (2017) Bauche S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, et al. Journal article Impaired Decision Making and Loss of Inhibitory-Control in a Rat Model of Huntington Disease (2016) El Massioui N, Lamirault C, Yague S, Adjeroud N, Garces D, Maillard A, Tallot L, et al. Journal article