Symoens S - Search Results

1

Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature.

Beyens A, Van Meensel K, Pottie L, De Rycke R, De Bruyne M, Baeke F, Hoebeke P, Plasschaert F, Loeys B, De Schepper S, Symoens S, Callewaert B. Beyens A, et al. Among authors: symoens s. Genes (Basel). 2019 Jul 12;10(7):528. doi: 10.3390/genes10070528. Genes (Basel). 2019. PMID: 31336972 Free PMC article. Review.

2

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

3

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: symoens s. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free article.

4

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

5

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

6

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. Hum Mutat. 2012 Oct;33(10):1485-93. doi: 10.1002/humu.22137. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22696272

7

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A. Callewaert B, et al. Among authors: symoens s. Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13. Hum Mutat. 2013. PMID: 22829427 Free PMC article.

8

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.

Symoens S, Malfait F, D'hondt S, Callewaert B, Dheedene A, Steyaert W, Bächinger HP, De Paepe A, Kayserili H, Coucke PJ. Symoens S, et al. Orphanet J Rare Dis. 2013 Sep 30;8:154. doi: 10.1186/1750-1172-8-154. Orphanet J Rare Dis. 2013. PMID: 24079343 Free PMC article.

9

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.

Campens L, Callewaert B, Muiño Mosquera L, Renard M, Symoens S, De Paepe A, Coucke P, De Backer J. Campens L, et al. Among authors: symoens s. Orphanet J Rare Dis. 2015 Feb 3;10:9. doi: 10.1186/s13023-014-0221-6. Orphanet J Rare Dis. 2015. PMID: 25644172 Free PMC article.

10

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, Krüger U, Zemojtel T, van Ravenswaaij-Arts C, Mostafavi R, Stolte-Dijkstra I, Symoens S, Pajunen L, Al-Gazali L, Meierhofer D, Robinson PN, Mundlos S, Villarroel CE, Byers P, Masri A, Robertson SP, Schwarze U, Callewaert B, Reversade B, Kornak U. Fischer-Zirnsak B, et al. Among authors: symoens s. Am J Hum Genet. 2015 Sep 3;97(3):483-92. doi: 10.1016/j.ajhg.2015.08.001. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320891 Free PMC article.

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