Symoens S - Search Results

1

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Van Damme T, Pang X, Guillemyn B, Gulberti S, Syx D, De Rycke R, Kaye O, de Die-Smulders CEM, Pfundt R, Kariminejad A, Nampoothiri S, Pierquin G, Bulk S, Larson AA, Chatfield KC, Simon M, Legrand A, Gerard M, Symoens S, Fournel-Gigleux S, Malfait F. Van Damme T, et al. Among authors: symoens s. Hum Mol Genet. 2018 Oct 15;27(20):3475-3487. doi: 10.1093/hmg/ddy234. Hum Mol Genet. 2018. PMID: 29931299

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

4

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: symoens s. 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.

5

Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.

Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A. Malfait F, et al. Among authors: symoens s. J Med Genet. 2006 Jul;43(7):e36. doi: 10.1136/jmg.2005.038224. J Med Genet. 2006. PMID: 16816023 Free PMC article.

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: symoens s. Hum Mutat. 2007 Apr;28(4):387-95. doi: 10.1002/humu.20455. Hum Mutat. 2007. PMID: 17211858

7

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

8

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: symoens s. 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

9

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome.

Verstraeten E, Symoens S, Renard M, Callewaert B, Vandekerckhove K, De Backer J, Malfait F, Marks L, Coucke P, De Paepe A, Loeys B. Verstraeten E, et al. Among authors: symoens s. Clin Dysmorphol. 2010 Jul;19(3):119-122. doi: 10.1097/MCD.0b013e3283353105. Clin Dysmorphol. 2010. PMID: 20308875

10

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Kelley BP, et al. Among authors: symoens s. J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250. J Bone Miner Res. 2011. PMID: 20839288 Free PMC article.

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