Malfait F - Search Results

1

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.

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

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.

Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Adès LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapière CM, Nusgens BV. Colige A, et al. Among authors: malfait f. J Invest Dermatol. 2004 Oct;123(4):656-63. doi: 10.1111/j.0022-202X.2004.23406.x. J Invest Dermatol. 2004. PMID: 15373769 Free article.

5

DUP25 remains unconfirmed.

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: malfait f. 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.

6

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.

7

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

8

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

9

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.

10

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.

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