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Page 1
Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia.
Persu A, Dobrowolski P, Gornik HL, Olin JW, Adlam D, Azizi M, Boutouyrie P, Bruno RM, Boulanger M, Demoulin JB, Ganesh SK, J Guzik T, Januszewicz M, Kovacic JC, Kruk M, de Leeuw P, Loeys BL, Pappaccogli M, Perik MHAM, Touzé E, Van der Niepen P, Van Twist DJL, Warchoł-Celińska E, Prejbisz A, Januszewicz A. Persu A, et al. Among authors: perik mham. Cardiovasc Res. 2022 Jan 7;118(1):65-83. doi: 10.1093/cvr/cvab086. Cardiovasc Res. 2022. PMID: 33739371 Free PMC article. Review.
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Verstraeten A, Perik MHAM, Baranowska AA, Meester JAN, Van Den Heuvel L, Bastianen J, Kempers M, Krapels IPC, Maas A, Rideout A, Vandersteen A, Sobey G, Johnson D, Fransen E, Ghali N, Webb T, Al-Hussaini A, de Leeuw P, Delmotte P, Lopez-Sublet M, Pappaccogli M, Sprynger M, Toubiana L; European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI); Van Laer L, Van Dijk FS, Vikkula M, Samani NJ, Persu A, Adlam D, Loeys B; Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI). Verstraeten A, et al. Among authors: perik mham. Circulation. 2020 Sep 8;142(10):1021-1024. doi: 10.1161/CIRCULATIONAHA.120.045946. Epub 2020 Sep 8. Circulation. 2020. PMID: 32897753 Free article. No abstract available.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Van Gucht I, Krebsova A, Diness BR, Laga S, Adlam D, Kempers M, Samani NJ, Webb TR, Baranowska AA, Van Den Heuvel L, Perik M, Luyckx I, Peeters N, Votypka P, Macek M, Meester J, Van Laer L, Verstraeten A, Loeys BL. Van Gucht I, et al. Int J Mol Sci. 2021 Jul 1;22(13):7111. doi: 10.3390/ijms22137111. Int J Mol Sci. 2021. PMID: 34281165 Free PMC article.
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Among authors: perik mham. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.