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361 results

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Page 1
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
Sousa SB, Lambot-Juhan K, Rio M, Baujat G, Topouchian V, Hanna N, Le Merrer M, Brunelle F, Munnich A, Boileau C, Cormier-Daire V. Sousa SB, et al. Among authors: boileau c. Am J Med Genet A. 2011 May;155A(5):1178-83. doi: 10.1002/ajmg.a.33813. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484991 No abstract available.
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C. Barbier M, et al. Among authors: boileau c. Am J Hum Genet. 2014 Dec 4;95(6):736-43. doi: 10.1016/j.ajhg.2014.10.018. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434006 Free PMC article.
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ; University of Washington Center for Mendelian Genomics; Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM. Guo DC, et al. Among authors: boileau c. Circ Res. 2016 Mar 18;118(6):928-34. doi: 10.1161/CIRCRESAHA.115.307130. Epub 2016 Jan 12. Circ Res. 2016. PMID: 26838787 Free PMC article.
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C. Arnaud P, et al. Among authors: boileau c. J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31. J Med Genet. 2017. PMID: 27582083 Free article.
Actionable Genes, Core Databases, and Locus-Specific Databases.
Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: boileau c. Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26. Hum Mutat. 2016. PMID: 27600092
WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: boileau c. Hum Mutat. 2016 Dec;37(12):1308-1317. doi: 10.1002/humu.23119. Epub 2016 Oct 10. Hum Mutat. 2016. PMID: 27647783
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.
Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Arnaud P, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM. Wallace SE, et al. Among authors: boileau c. Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20. Genet Med. 2019. PMID: 29925964 Free PMC article.
361 results