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321 results

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Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
Peeters S, Decramer A, Cain SA, Houpt P, Verstreken F, Noyez J, Hermans C, Jacobs W, Lammens M, Fransen E, Kumar AA, Vandeweyer G, Loeys B, Van Hul W, Baldock C, Boudin E, Mortier G. Peeters S, et al. Among authors: fransen e. J Med Genet. 2021 Nov;58(11):778-782. doi: 10.1136/jmedgenet-2020-107085. Epub 2020 Sep 8. J Med Genet. 2021. PMID: 32900841
Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.
Beyens G, Daroszewska A, de Freitas F, Fransen E, Vanhoenacker F, Verbruggen L, Zmierczak HG, Westhovens R, Van Offel J, Ralston SH, Devogelaer JP, Van Hul W. Beyens G, et al. Among authors: fransen e. J Bone Miner Res. 2007 Jul;22(7):1062-71. doi: 10.1359/jbmr.070333. J Bone Miner Res. 2007. PMID: 17388729 Free article.
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.
Chung PY, Beyens G, Boonen S, Papapoulos S, Geusens P, Karperien M, Vanhoenacker F, Verbruggen L, Fransen E, Van Offel J, Goemaere S, Zmierczak HG, Westhovens R, Devogelaer JP, Van Hul W. Chung PY, et al. Among authors: fransen e. Hum Genet. 2010 Dec;128(6):615-26. doi: 10.1007/s00439-010-0888-2. Epub 2010 Sep 14. Hum Genet. 2010. PMID: 20839008
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, Peeters N, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL. Wischmeijer A, et al. Among authors: fransen e. Am J Med Genet A. 2013 May;161A(5):1028-35. doi: 10.1002/ajmg.a.35852. Epub 2013 Mar 29. Am J Med Genet A. 2013. PMID: 23554019
Familial hypertryptasemia with associated mast cell activation syndrome.
Sabato V, Van De Vijver E, Hagendorens M, Vrelust I, Reyniers E, Fransen E, Bridts C, De Clerck L, Mortier G, Valent P, Ebo D. Sabato V, et al. Among authors: fransen e. J Allergy Clin Immunol. 2014 Dec;134(6):1448-1450.e3. doi: 10.1016/j.jaci.2014.06.007. Epub 2014 Jul 30. J Allergy Clin Immunol. 2014. PMID: 25086867 No abstract available.
321 results