De Paepe A - Search Results

1

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F. Van Damme T, et al. Among authors: de paepe a. Genet Med. 2016 Sep;18(9):882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14. Genet Med. 2016. PMID: 26765342 Free article.

2

The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).

Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A. Malfait F, et al. Among authors: de paepe a, de coster p. Am J Med Genet A. 2004 Nov 15;131(1):18-28. doi: 10.1002/ajmg.a.30299. Am J Med Genet A. 2004. PMID: 15389701 Free article.

3

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.

De Paepe A, Malfait F. De Paepe A, et al. Br J Haematol. 2004 Dec;127(5):491-500. doi: 10.1111/j.1365-2141.2004.05220.x. Br J Haematol. 2004. PMID: 15566352 Free article. Review.

4

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients.

Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. Malfait F, et al. Among authors: de paepe a. Hum Mutat. 2005 Jan;25(1):28-37. doi: 10.1002/humu.20107. Hum Mutat. 2005. PMID: 15580559

5

Molecular genetics in classic Ehlers-Danlos syndrome.

Malfait F, De Paepe A. Malfait F, et al. Among authors: de paepe a. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):17-23. doi: 10.1002/ajmg.c.30070. Am J Med Genet C Semin Med Genet. 2005. PMID: 16278879 Review.

6

Ehlers-Danlos syndromes and Marfan syndrome.

Callewaert B, Malfait F, Loeys B, De Paepe A. Callewaert B, et al. Among authors: de paepe a. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. Best Pract Res Clin Rheumatol. 2008. PMID: 18328988 Review.

7

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment.

Malfait F, De Paepe A. Malfait F, et al. Among authors: de paepe a. Blood Rev. 2009 Sep;23(5):191-7. doi: 10.1016/j.blre.2009.06.001. Epub 2009 Jul 9. Blood Rev. 2009. PMID: 19592142 Review.

8

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.

Malfait F, Wenstrup RJ, De Paepe A. Malfait F, et al. Among authors: de paepe a. Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Genet Med. 2010. PMID: 20847697 Free article. Review.

9

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A. Malfait F, et al. Among authors: de paepe a. Am J Hum Genet. 2013 Jun 6;92(6):935-45. doi: 10.1016/j.ajhg.2013.04.016. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664118 Free PMC article.

10

The Ehlers-Danlos syndrome.

Malfait F, De Paepe A. Malfait F, et al. Among authors: de paepe a. Adv Exp Med Biol. 2014;802:129-43. doi: 10.1007/978-94-007-7893-1_9. Adv Exp Med Biol. 2014. PMID: 24443025 Review.

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