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Page 1
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection.
Annu Rev Genomics Hum Genet. 2022 Aug 31;23:223-253. doi: 10.1146/annurev-genom-111521-104455.
Annu Rev Genomics Hum Genet. 2022.
PMID: 36044906
Free article.
Review.
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
Rodrigues Bento J, Krebsová A, Van Gucht I, Valdivia Callejon I, Van Berendoncks A, Votypka P, Luyckx I, Peldova P, Laga S, Havelka M, Van Laer L, Trunecka P, Boeckx N, Verstraeten A, Macek M, Meester JAN, Loeys B.
Rodrigues Bento J, et al.
Hum Mutat. 2022 Dec;43(12):1824-1828. doi: 10.1002/humu.24433. Epub 2022 Jul 16.
Hum Mutat. 2022.
PMID: 35819173
Free PMC article.
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Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.
Rodrigues Bento J, Feben C, Kempers M, van Rij M, Woiski M, Devriendt K, De Catte L, Baldewijns M, Alaerts M, Meester J, Verstraeten A, Hendson W, Loeys B.
Rodrigues Bento J, et al.
Mol Genet Genomic Med. 2021 Oct;9(10):e1797. doi: 10.1002/mgg3.1797. Epub 2021 Sep 9.
Mol Genet Genomic Med. 2021.
PMID: 34499417
Free PMC article.
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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: bento jr.
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.
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