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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. Among authors: vitobello a. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Jalal Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST. Palmer EE, et al. Among authors: vitobello a. Am J Hum Genet. 2019 Apr 4;104(4):778. doi: 10.1016/j.ajhg.2019.03.016. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929740 Free PMC article. No abstract available.
Xenobiotic CAR Activators Induce Dlk1-Dio3 Locus Noncoding RNA Expression in Mouse Liver.
Pouché L, Vitobello A, Römer M, Glogovac M, MacLeod AK, Ellinger-Ziegelbauer H, Westphal M, Dubost V, Stiehl DP, Dumotier B, Fekete A, Moulin P, Zell A, Schwarz M, Moreno R, Huang JTJ, Elcombe CR, Henderson CJ, Roland Wolf C, Moggs JG, Terranova R. Pouché L, et al. Among authors: vitobello a. Toxicol Sci. 2017 Aug 1;158(2):367-378. doi: 10.1093/toxsci/kfx104. Toxicol Sci. 2017. PMID: 28541575
Phenobarbital induces cell cycle transcriptional responses in mouse liver humanized for constitutive androstane and pregnane x receptors.
Luisier R, Lempiäinen H, Scherbichler N, Braeuning A, Geissler M, Dubost V, Müller A, Scheer N, Chibout SD, Hara H, Picard F, Theil D, Couttet P, Vitobello A, Grenet O, Grasl-Kraupp B, Ellinger-Ziegelbauer H, Thomson JP, Meehan RR, Elcombe CR, Henderson CJ, Wolf CR, Schwarz M, Moulin P, Terranova R, Moggs JG. Luisier R, et al. Among authors: vitobello a. Toxicol Sci. 2014 Jun;139(2):501-11. doi: 10.1093/toxsci/kfu038. Epub 2014 Apr 1. Toxicol Sci. 2014. PMID: 24690595
129 results