De Paepe A - Search Results

1

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.

D'hondt S, Guillemyn B, Syx D, Symoens S, De Rycke R, Vanhoutte L, Toussaint W, Lambrecht BN, De Paepe A, Keene DR, Ishikawa Y, Bächinger HP, Janssens S, Bertrand MJM, Malfait F. D'hondt S, et al. Among authors: de rycke r, de paepe a. Matrix Biol. 2018 Sep;70:72-83. doi: 10.1016/j.matbio.2018.03.008. Epub 2018 Mar 15. Matrix Biol. 2018. PMID: 29551664

2

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.

3

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.

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

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood.

Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, Coucke P, De Paepe A. Malfait F, et al. Among authors: de paepe a, de backer j. Hum Mutat. 2007 Apr;28(4):387-95. doi: 10.1002/humu.20455. Hum Mutat. 2007. PMID: 17211858

7

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.

8

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, Coucke P, De Paepe A. Symoens S, et al. Among authors: de paepe a. Hum Mutat. 2009 Feb;30(2):E395-403. doi: 10.1002/humu.20887. Hum Mutat. 2009. PMID: 18972565

9

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.

10

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene.

Malfait F, Syx D, Vlummens P, Symoens S, Nampoothiri S, Hermanns-Lê T, Van Laer L, De Paepe A. Malfait F, et al. Among authors: de paepe a. Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355. Hum Mutat. 2010. PMID: 20842734

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