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RELN rare variants in myoclonus-dystonia.
Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Among authors: jongejan a. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840
Targeting NF-κB signaling in B cells as a potential new treatment modality for ANCA-associated vasculitis.
Merino-Vico A, van Hamburg JP, Tuijnenburg P, Frazzei G, Al-Soudi A, Bonasia CG, Helder B, Rutgers A, Abdulahad WH, Stegeman CA, Sanders JS, Bergamaschi L, Lyons PA, Bijma T, van Keep L, Wesenhagen K, Jongejan A, Olsson H, de Vries N, Kuijpers TW, Heeringa P, Tas SW. Merino-Vico A, et al. Among authors: jongejan a. J Autoimmun. 2024 Jan;142:103133. doi: 10.1016/j.jaut.2023.103133. Epub 2023 Nov 8. J Autoimmun. 2024. PMID: 37931331 Free article.
Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: jongejan a. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nürnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA. Groen JL, et al. Among authors: jongejan a. Hum Mol Genet. 2015 Feb 15;24(4):987-93. doi: 10.1093/hmg/ddu513. Epub 2014 Oct 8. Hum Mol Genet. 2015. PMID: 25296916 Free PMC article.
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC. Heinen CA, et al. Among authors: jongejan a. J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. J Med Genet. 2016. PMID: 26769062 Free PMC article.
Effect of Hyperglycemia on Gene Expression during Early Organogenesis in Mice.
Zhao J, Hakvoort TB, Willemsen AM, Jongejan A, Sokolovic M, Bradley EJ, de Boer VC, Baas F, van Kampen AH, Lamers WH. Zhao J, et al. Among authors: jongejan a. PLoS One. 2016 Jul 19;11(7):e0158035. doi: 10.1371/journal.pone.0158035. eCollection 2016. PLoS One. 2016. PMID: 27433804 Free PMC article.
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