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A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Boulouadnine B, Filser M, Leducq C, Losole T, Bies J, Smetsers S, Kouwenberg D, de Lange I, Mensenkamp A, Kordes UR, Minard-Colin V, Orbach D, Brichard B, de Krijger R, Masliah-Planchon J, Demoulin JB. Boulouadnine B, et al. Among authors: de lange i. Genet Med. 2024 Nov 21;27(2):101334. doi: 10.1016/j.gim.2024.101334. Online ahead of print. Genet Med. 2024. PMID: 39580648
Antenatal Ureaplasma Infection Causes Colonic Mucus Barrier Defects: Implications for Intestinal Pathologies.
van Gorp C, de Lange IH, Hütten MC, López-Iglesias C, Massy KRI, Kessels L, Knoops K, Cuijpers I, Sthijns MMJPE, Troost FJ, van Gemert WG, Spiller OB, Birchenough GMH, Zimmermann LJI, Wolfs TGAM. van Gorp C, et al. Among authors: de lange ih. Int J Mol Sci. 2024 Apr 3;25(7):4000. doi: 10.3390/ijms25074000. Int J Mol Sci. 2024. PMID: 38612809 Free PMC article.
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A. Gallagher D, et al. Among authors: de lange i. Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38410936
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: de lange im. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
Antenatal Ureaplasma infection induces ovine small intestinal goblet cell defects: a strong link with NEC pathology.
van Gorp C, de Lange IH, Hütten MC, López-Iglesias C, Massy KR, Kessels L, Kramer B, van de Wetering W, Spiller B, Birchenough GM, van Gemert WG, Zimmermann LJ, Wolfs TG. van Gorp C, et al. Among authors: de lange ih. Tissue Barriers. 2023 Oct 2;11(4):2158016. doi: 10.1080/21688370.2022.2158016. Epub 2022 Dec 28. Tissue Barriers. 2023. PMID: 36576242 Free PMC article.
Heart failure subphenotypes based on repeated biomarker measurements are associated with clinical characteristics and adverse events (Bio-SHiFT study).
de Lange I, Petersen TB, de Bakker M, Akkerhuis KM, Brugts JJ, Caliskan K, Manintveld OC, Constantinescu AA, Germans T, van Ramshorst J, Umans VAWM, Boersma E, Rizopoulos D, Kardys I. de Lange I, et al. Int J Cardiol. 2022 Oct 1;364:77-84. doi: 10.1016/j.ijcard.2022.06.020. Epub 2022 Jun 15. Int J Cardiol. 2022. PMID: 35714717 Free article.
34 results