Syx D - Search Results

1

Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure.

Daponte V, Tonelli F, Masiero C, Syx D, Exbrayat-Héritier C, Biggiogera M, Willaert A, Rossi A, Coucke PJ, Ruggiero F, Forlino A. Daponte V, et al. Among authors: syx d. Matrix Biol. 2023 Aug;121:105-126. doi: 10.1016/j.matbio.2023.06.003. Epub 2023 Jun 17. Matrix Biol. 2023. PMID: 37336269 Free article.

2

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).

Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Lê T, Willaert A, Benmansour A, De Paepe A, Verloes A. Syx D, et al. Hum Genet. 2010 Jul;128(1):79-88. doi: 10.1007/s00439-010-0829-0. Epub 2010 Apr 28. Hum Genet. 2010. PMID: 20424861

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. Among authors: syx d. Biochem J. 2011 Jan 15;433(2):371-81. doi: 10.1042/BJ20101061. Biochem J. 2011. PMID: 20979576

4

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, Coucke P, De Paepe A. Symoens S, et al. Among authors: syx d. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22696272

5

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A. Malfait F, et al. Among authors: syx d. Am J Hum Genet. 2013 Jun 6;92(6):935-45. doi: 10.1016/j.ajhg.2013.04.016. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664118 Free PMC article.

6

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

Syx D, Guillemyn B, Symoens S, Sousa AB, Medeira A, Whiteford M, Hermanns-Lê T, Coucke PJ, De Paepe A, Malfait F. Syx D, et al. J Bone Miner Res. 2015 Aug;30(8):1445-56. doi: 10.1002/jbmr.2473. Epub 2015 May 21. J Bone Miner Res. 2015. PMID: 25656619 Free article.

7

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ. Symoens S, et al. Among authors: syx d, d hondt s. Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10. Am J Hum Genet. 2015. PMID: 26365339 Free PMC article.

8

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. Dis Markers. 2015;2015:828970. doi: 10.1155/2015/828970. Epub 2015 Oct 4. Dis Markers. 2015. PMID: 26504261 Free PMC article.

9

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Guillemyn B, Kayserili H, Demuynck L, Sips P, De Paepe A, Syx D, Coucke PJ, Malfait F, Symoens S. Guillemyn B, et al. Among authors: syx d. Hum Mol Genet. 2019 Jun 1;28(11):1801-1809. doi: 10.1093/hmg/ddz017. Hum Mol Genet. 2019. PMID: 30657919

10

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.

Delbaere S, Van Damme T, Syx D, Symoens S, Coucke P, Willaert A, Malfait F. Delbaere S, et al. Among authors: syx d. Matrix Biol. 2020 Jul;89:59-75. doi: 10.1016/j.matbio.2019.12.002. Epub 2019 Dec 17. Matrix Biol. 2020. PMID: 31862401

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