Coucke PJ - Search Results

1

New insights on the clinical variability of FKBP10 mutations.

Essawi OH, Tapaneeyaphan P, Symoens S, Gistelinck C C, Malfait F, Eyre DR, Essawi T, Callewaert B, Coucke PJ. Essawi OH, et al. Among authors: coucke pj. Eur J Med Genet. 2020 Sep;63(9):103980. doi: 10.1016/j.ejmg.2020.103980. Epub 2020 Jun 9. Eur J Med Genet. 2020. PMID: 32531462

2

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ. Essawi O, et al. Among authors: coucke pj. Mol Genet Genomic Med. 2018 Jan;6(1):15-26. doi: 10.1002/mgg3.331. Epub 2017 Nov 18. Mol Genet Genomic Med. 2018. PMID: 29150909 Free PMC article.

3

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. Willaert A, et al. Among authors: coucke pj. J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16. J Med Genet. 2009. PMID: 19088120

4

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. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22696272

5

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Jacquinet A, Verloes A, Callewaert B, Coremans C, Coucke P, de Paepe A, Kornak U, Lebrun F, Lombet J, Piérard GE, Robinson PN, Symoens S, Van Maldergem L, Debray FG. Jacquinet A, et al. Eur J Med Genet. 2014 Apr;57(5):230-4. doi: 10.1016/j.ejmg.2014.02.012. Epub 2014 Mar 6. Eur J Med Genet. 2014. PMID: 24613577

6

The Genetics of Soft Connective Tissue Disorders.

Vanakker O, Callewaert B, Malfait F, Coucke P. Vanakker O, et al. Annu Rev Genomics Hum Genet. 2015;16:229-55. doi: 10.1146/annurev-genom-090314-050039. Epub 2015 May 18. Annu Rev Genomics Hum Genet. 2015. PMID: 26002060 Review.

7

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.

Symoens S, Malfait F, D'hondt S, Callewaert B, Dheedene A, Steyaert W, Bächinger HP, De Paepe A, Kayserili H, Coucke PJ. Symoens S, et al. Among authors: coucke pj. Orphanet J Rare Dis. 2013 Sep 30;8:154. doi: 10.1186/1750-1172-8-154. Orphanet J Rare Dis. 2013. PMID: 24079343 Free PMC article.

8

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.

Symoens S, Hulmes DJ, Bourhis JM, Coucke PJ, De Paepe A, Malfait F. Symoens S, et al. Among authors: coucke pj. Hum Mutat. 2014 Nov;35(11):1330-41. doi: 10.1002/humu.22677. Epub 2014 Oct 18. Hum Mutat. 2014. PMID: 25146735

9

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F. Syx D, et al. Among authors: coucke pj. Dis Markers. 2015;2015:828970. doi: 10.1155/2015/828970. Epub 2015 Oct 4. Dis Markers. 2015. PMID: 26504261 Free PMC article.

10

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

Gistelinck C, Witten PE, Huysseune A, Symoens S, Malfait F, Larionova D, Simoens P, Dierick M, Van Hoorebeke L, De Paepe A, Kwon RY, Weis M, Eyre DR, Willaert A, Coucke PJ. Gistelinck C, et al. Among authors: coucke pj. J Bone Miner Res. 2016 Nov;31(11):1930-1942. doi: 10.1002/jbmr.2977. Epub 2016 Oct 24. J Bone Miner Res. 2016. PMID: 27541483 Free PMC article.

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