Coucke P - Search Results

1

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Campens L, Callewaert B, Muiño Mosquera L, Renard M, Symoens S, De Paepe A, Coucke P, De Backer J. Campens L, et al. Among authors: coucke p. Orphanet J Rare Dis. 2015 Feb 3;10:9. doi: 10.1186/s13023-014-0221-6. Orphanet J Rare Dis. 2015. PMID: 25644172 Free PMC article.

2

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

De Backer J, Renard M, Campens L, Mosquera LM, De Paepe A, Coucke P, Callewaert B, Kodolitsch Yv. De Backer J, et al. Among authors: coucke p. Curr Pharm Des. 2015;21(28):4061-75. doi: 10.2174/1381612821666150826093152. Curr Pharm Des. 2015. PMID: 26306841 Review.

3

Mutation analysis of the FBN1 gene in patients with Marfan syndrome.

Coucke P, Van Acker P, De Paepe A. Coucke P, et al. Methods Mol Med. 2006;126:81-95. doi: 10.1385/1-59745-088-X:81. Methods Mol Med. 2006. PMID: 16930007

4

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Renard M, Callewaert B, Baetens M, Campens L, MacDermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, De Backer J. Renard M, et al. Among authors: coucke p. Int J Cardiol. 2013 May 10;165(2):314-21. doi: 10.1016/j.ijcard.2011.08.079. Epub 2011 Sep 19. Int J Cardiol. 2013. PMID: 21937134 Free PMC article.

5

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A. Symoens S, et al. Among authors: coucke p. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22696272

6

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections.

Campens L, Renard M, Callewaert B, Coucke P, De Backer J, De Paepe A. Campens L, et al. Among authors: coucke p. Pol Arch Med Wewn. 2013;123(12):693-700. doi: 10.20452/pamw.2015. Epub 2013 Dec 16. Pol Arch Med Wewn. 2013. PMID: 24343123 Free article. Review.

7

Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.

De Backer J, Renard M, Campens L, François K, Callewaert B, Coucke P, De Paepe A. De Backer J, et al. Among authors: coucke p. Aorta (Stamford). 2013 Jul 1;1(2):135-45. doi: 10.12945/j.aorta.2013.13-024. eCollection 2013 Jul. Aorta (Stamford). 2013. PMID: 26798687 Free PMC article.

8

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.

Muiño-Mosquera L, Steijns F, Audenaert T, Meerschaut I, De Paepe A, Steyaert W, Symoens S, Coucke P, Callewaert B, Renard M, De Backer J. Muiño-Mosquera L, et al. Among authors: coucke p. Circ Genom Precis Med. 2018 Jun;11(6):e002039. doi: 10.1161/CIRCGEN.117.002039. Circ Genom Precis Med. 2018. PMID: 29875124

9

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Baetens M, Van Laer L, De Leeneer K, Hellemans J, De Schrijver J, Van De Voorde H, Renard M, Dietz H, Lacro RV, Menten B, Van Criekinge W, De Backer J, De Paepe A, Loeys B, Coucke PJ. Baetens M, et al. Hum Mutat. 2011 Sep;32(9):1053-62. doi: 10.1002/humu.21525. Epub 2011 Jul 20. Hum Mutat. 2011. PMID: 21542060

10

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

Swinnen FK, Coucke PJ, De Paepe AM, Symoens S, Malfait F, Gentile FV, Sangiorgi L, D'Eufemia P, Celli M, Garretsen TJ, Cremers CW, Dhooge IJ, De Leenheer EM. Swinnen FK, et al. Among authors: coucke pj. Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88. Orphanet J Rare Dis. 2011. PMID: 22206639 Free PMC article.

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