Symoens S - Search Results

1

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.

Lantoine J, Brysse A, Dideberg V, Claes K, Symoens S, Coucke W, Benoit V, Rombout S, De Rycke M, Seneca S, Van Laer L, Wuyts W, Corveleyn A, Van Den Bogaert K, Rydlewski C, Wilkin F, Ravoet M, Fastré E, Capron A, Vandevelde NM. Lantoine J, et al. Among authors: symoens s. JMIR Med Inform. 2021 Jul 12;9(7):e27980. doi: 10.2196/27980. JMIR Med Inform. 2021. PMID: 34255700 Free PMC article.

2

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: symoens s. Hum Mutat. 2010 Nov;31(11):1233-9. doi: 10.1002/humu.21355. Hum Mutat. 2010. PMID: 20842734

3

Identification of binding partners interacting with the α1-N-propeptide of type V collagen.

Symoens S, Renard M, Bonod-Bidaud C, Syx D, Vaganay E, Malfait F, Ricard-Blum S, Kessler E, Van Laer L, Coucke P, Ruggiero F, De Paepe A. Symoens S, et al. Biochem J. 2011 Jan 15;433(2):371-81. doi: 10.1042/BJ20101061. Biochem J. 2011. PMID: 20979576

4

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. McInerney-Leo AM, et al. Among authors: symoens s. Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013. Bonekey Rep. 2013. PMID: 24501682 Free PMC article.

5

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.

Muiño-Mosquera L, Steijns F, Audenaert T, Meerschaut I, De Paepe A, Steyaert W, Symoens S, Coucke P, Callewaert B, Renard M, De Backer J. Muiño-Mosquera L, et al. Among authors: symoens s. Circ Genom Precis Med. 2018 Jun;11(6):e002039. doi: 10.1161/CIRCGEN.117.002039. Circ Genom Precis Med. 2018. PMID: 29875124

6

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family.

Syx D, Symoens S, Steyaert W, De Paepe A, Coucke PJ, Malfait F. Syx D, et al. Among authors: symoens s. Dis Markers. 2015;2015:828970. doi: 10.1155/2015/828970. Epub 2015 Oct 4. Dis Markers. 2015. PMID: 26504261 Free PMC article.

7

Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.

Beyens A, Boel A, Symoens S, Callewaert B. Beyens A, et al. Among authors: symoens s. Clin Genet. 2021 Jan;99(1):53-66. doi: 10.1111/cge.13865. Epub 2020 Oct 27. Clin Genet. 2021. PMID: 33058140 Review.

8

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.

9

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

10

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.

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