Coucke P - Search Results

1

Vermeulen SJ, Menten B, De Bie S, Coucke P, Malfait F, De Backer J, Speleman F, De Paepe A, Loeys B. Vermeulen SJ, et al. Among authors: coucke p. Am J Med Genet A. 2004 Dec 15;131(3):320-1. doi: 10.1002/ajmg.a.30343. Am J Med Genet A. 2004. PMID: 15386472 No abstract available.

2

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Hellemans J, et al. Among authors: coucke pj. Nat Genet. 2004 Nov;36(11):1213-8. doi: 10.1038/ng1453. Epub 2004 Oct 17. Nat Genet. 2004. PMID: 15489854

3

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Coucke PJ, et al. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550171 Free article.

4

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Symoens S, Steyaert W, Demuynck L, De Paepe A, Diderich KE, Malfait F, Coucke PJ. Symoens S, et al. Am J Med Genet A. 2017 Apr;173(4):1047-1050. doi: 10.1002/ajmg.a.38135. Epub 2017 Mar 6. Am J Med Genet A. 2017. PMID: 28261977

5

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.

Coucke PJ, Wessels MW, Van Acker P, Gardella R, Barlati S, Willems PJ, Colombi M, De Paepe A. Coucke PJ, et al. J Med Genet. 2003 Oct;40(10):747-51. doi: 10.1136/jmg.40.10.747. J Med Genet. 2003. PMID: 14569121 Free PMC article.

6

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

Mosca AL, Callier P, Masurel-Paulet A, Thauvin-Robinet C, Marle N, Nouchy M, Huet F, Dipanda D, De Paepe A, Coucke P, Mugneret F, Faivre L. Mosca AL, et al. Among authors: coucke p. Am J Med Genet A. 2010 May;152A(5):1314-7. doi: 10.1002/ajmg.a.33254. Am J Med Genet A. 2010. PMID: 20425843 No abstract available.

7

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B. De Rocker N, et al. Among authors: coucke p. Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232846 Free article.

8

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A. Vanakker OM, et al. Among authors: coucke pj. Am J Med Genet A. 2011 Nov;155A(11):2855-9. doi: 10.1002/ajmg.a.34264. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21964806

9

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. van de Laar IM, et al. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769

10

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.

Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR. Hellemans J, et al. Among authors: coucke pj. Am J Hum Genet. 2003 Apr;72(4):1040-6. doi: 10.1086/374318. Epub 2003 Mar 11. Am J Hum Genet. 2003. PMID: 12632327 Free PMC article.

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