Malfait F - Search Results

1

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V, Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Malfait F, et al. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78. Orphanet J Rare Dis. 2013. PMID: 23692737 Free PMC article.

2

Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

De Coster PJ, Malfait F, Martens LC, De Paepe A. De Coster PJ, et al. Among authors: malfait f. J Oral Pathol Med. 2003 Oct;32(9):568-70. doi: 10.1034/j.1600-0714.2003.00170.x. J Oral Pathol Med. 2003. PMID: 12969232

3

Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype.

Symoens S, Nuytinck L, Legius E, Malfait F, Coucke PJ, De Paepe A. Symoens S, et al. Among authors: malfait f. J Med Genet. 2004 Jul;41(7):e96. doi: 10.1136/jmg.2003.014589. J Med Genet. 2004. PMID: 15235039 Free PMC article. No abstract available.

4

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. 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.

5

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

De Paepe A, Malfait F. De Paepe A, et al. Among authors: malfait f. 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.

6

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. Hum Mutat. 2005 Jan;25(1):28-37. doi: 10.1002/humu.20107. Hum Mutat. 2005. PMID: 15580559

7

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

Walker LC, Teebi AS, Marini JC, De Paepe A, Malfait F, Atsawasuwan P, Yamauchi M, Yeowell HN. Walker LC, et al. Among authors: malfait f. Mol Genet Metab. 2004 Dec;83(4):312-21. doi: 10.1016/j.ymgme.2004.07.013. Mol Genet Metab. 2004. PMID: 15589118

8

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

Walker LC, Overstreet MA, Siddiqui A, De Paepe A, Ceylaner G, Malfait F, Symoens S, Atsawasuwan P, Yamauchi M, Ceylaner S, Bank RA, Yeowell HN. Walker LC, et al. Among authors: malfait f. J Invest Dermatol. 2005 May;124(5):914-8. doi: 10.1111/j.0022-202X.2005.23727.x. J Invest Dermatol. 2005. PMID: 15854030 Free article.

9

Molecular genetics in classic Ehlers-Danlos syndrome.

Malfait F, De Paepe A. Malfait F, et al. 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.

10

The genetic basis of the joint hypermobility syndromes.

Malfait F, Hakim AJ, De Paepe A, Grahame R. Malfait F, et al. Rheumatology (Oxford). 2006 May;45(5):502-7. doi: 10.1093/rheumatology/kei268. Epub 2006 Jan 17. Rheumatology (Oxford). 2006. PMID: 16418200 Review. No abstract available.

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