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284 results

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Page 1
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Meester JA, et al. Among authors: richer j. Genet Med. 2017 Apr;19(4):386-395. doi: 10.1038/gim.2016.126. Epub 2016 Sep 15. Genet Med. 2017. PMID: 27632686 Free PMC article.
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC, Ades L, Benedict S, Bradley TJ, Brickner ME, Chatfield KC, Child A, Feist C, Holmes KW, Iannucci G, Lorenz B, Mark P, Morisaki T, Morisaki H, Morris SA, Mitchell AL, Ostergaard JR, Richer J, Sallee D, Shalhub S, Tekin M; Montalcino Aortic Consortium; Estrera A, Musolino P, Yetman A, Pyeritz R, Milewicz DM. Regalado ES, et al. Among authors: richer j. Genet Med. 2018 Oct;20(10):1206-1215. doi: 10.1038/gim.2017.245. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300374 Free PMC article.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B. Schepers D, et al. Among authors: richer j. Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6. Hum Mutat. 2018. PMID: 29392890 Free PMC article.
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Cannaerts E, et al. Among authors: richer j. J Med Genet. 2019 Apr;56(4):220-227. doi: 10.1136/jmedgenet-2018-105304. Epub 2018 Jul 2. J Med Genet. 2019. PMID: 29967133
Sexual dimorphism in SMAD3 pathogenic variant-harbouring individuals.
Richer J, Velchev JD, Goobie S, Boswell-Patterson CA, van de Laar IMBH, Verhagen JMA, Wessels MW, Roos-Hesselink JW, Luyckx I, Al-Amodi H, Chu MWA, Laberge AM, Sadikovic B, Balci T, Verstraeten A, Loeys B. Richer J, et al. J Med Genet. 2025 Jan 2:jmg-2024-110219. doi: 10.1136/jmg-2024-110219. Online ahead of print. J Med Genet. 2025. PMID: 39746778
CCMG statement on gene patents.
Richer J, Nelson TN, Evans J, Armstrong L, Lauzon J, McGillivray B. Richer J, et al. Clin Genet. 2012 Nov;82(5):405-7. doi: 10.1111/cge.12009. Clin Genet. 2012. PMID: 23051176 No abstract available.
284 results