Syx D - Search Results

1

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

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

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.

Symoens S, Malfait F, Vlummens P, Hermanns-Lê T, Syx D, De Paepe A. Symoens S, et al. Among authors: syx d. PLoS One. 2011;6(5):e20121. doi: 10.1371/journal.pone.0020121. Epub 2011 May 17. PLoS One. 2011. PMID: 21611149 Free PMC article.

5

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

6

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.

7

Compound heterozygous mutations of the TNXB gene cause primary myopathy.

Pénisson-Besnier I, Allamand V, Beurrier P, Martin L, Schalkwijk J, van Vlijmen-Willems I, Gartioux C, Malfait F, Syx D, Macchi L, Marcorelles P, Arbeille B, Croué A, De Paepe A, Dubas F. Pénisson-Besnier I, et al. Among authors: syx d. Neuromuscul Disord. 2013 Aug;23(8):664-9. doi: 10.1016/j.nmd.2013.04.009. Epub 2013 Jun 12. Neuromuscul Disord. 2013. PMID: 23768946

8

Compound heterozygous mutations of the TNXB gene cause primary myopathy. Response.

Allamand V, Beurrier P, Martin L, Malfait F, Syx D, DePaepe A. Allamand V, et al. Among authors: syx d. Neuromuscul Disord. 2014 Jan;24(1):89. doi: 10.1016/j.nmd.2013.10.008. Epub 2013 Nov 6. Neuromuscul Disord. 2014. PMID: 24295814 No abstract available.

9

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.

Nampoothiri S, Yesodharan D, Sainulabdin G, Narayanan D, Padmanabhan L, Girisha KM, Cathey SS, De Paepe A, Malfait F, Syx D, Hennekam RC, Bonafe L, Unger S, Superti-Furga A. Nampoothiri S, et al. Among authors: syx d. Am J Med Genet A. 2014 Sep;164A(9):2317-23. doi: 10.1002/ajmg.a.36668. Epub 2014 Jul 14. Am J Med Genet A. 2014. PMID: 25044831

10

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.

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