Malfait F - Search Results

1

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).

Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Minatogawa M, et al. Among authors: malfait f. J Med Genet. 2022 Sep;59(9):865-877. doi: 10.1136/jmedgenet-2020-107623. Epub 2021 Nov 23. J Med Genet. 2022. PMID: 34815299 Free PMC article.

2

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.

3

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.

4

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.

5

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

6

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

7

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.

8

Ehlers-Danlos syndromes and Marfan syndrome.

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

9

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: malfait f. Hum Mutat. 2009 Feb;30(2):E395-403. doi: 10.1002/humu.20887. Hum Mutat. 2009. PMID: 18972565

10

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. Willaert A, et al. Among authors: malfait f. J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16. J Med Genet. 2009. PMID: 19088120

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