Willaert A - Search Results

1

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.

Callewaert BL, Loeys BL, Casteleyn C, Willaert A, Dewint P, De Backer J, Sedlmeier R, Simoens P, De Paepe AM, Coucke PJ. Callewaert BL, et al. Among authors: willaert a. Genesis. 2008 Aug;46(8):385-9. doi: 10.1002/dvg.20409. Genesis. 2008. PMID: 18693279

2

Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

Crabbe P, Balemans W, Willaert A, van Pottelbergh I, Cleiren E, Coucke PJ, Ai M, Goemaere S, van Hul W, de Paepe A, Kaufman JM. Crabbe P, et al. Among authors: willaert a. J Bone Miner Res. 2005 Nov;20(11):1951-9. doi: 10.1359/JBMR.050705. Epub 2005 Jul 11. J Bone Miner Res. 2005. PMID: 16234968 Free article.

3

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Coucke PJ, et al. Among authors: willaert a. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550171 Free article.

4

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Callewaert BL, et al. Among authors: willaert a. Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623. Hum Mutat. 2008. PMID: 17935213

5

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. 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

6

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling.

Willaert A, Khatri S, Callewaert BL, Coucke PJ, Crosby SD, Lee JG, Davis EC, Shiva S, Tsang M, De Paepe A, Urban Z. Willaert A, et al. Hum Mol Genet. 2012 Mar 15;21(6):1248-59. doi: 10.1093/hmg/ddr555. Epub 2011 Nov 24. Hum Mol Genet. 2012. PMID: 22116938 Free PMC article.

7

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Santens P, Van Damme T, Steyaert W, Willaert A, Sablonnière B, De Paepe A, Coucke PJ, Dermaut B. Santens P, et al. Among authors: willaert a. Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3. Neurology. 2015. PMID: 25841028

8

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: willaert a. 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.

9

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

Németh CE, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, Ritelli M, Chiarelli N, Colombi M, Willaert A, Callewaert BL, Coucke PJ, Gróf P, Nagy SK, Mészáros T, Bánhegyi G, Margittai É. Németh CE, et al. Among authors: willaert a. FEBS Lett. 2016 Jun;590(11):1630-40. doi: 10.1002/1873-3468.12204. Epub 2016 May 27. FEBS Lett. 2016. PMID: 27153185 Free article.

10

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment.

Boel A, Steyaert W, De Rocker N, Menten B, Callewaert B, De Paepe A, Coucke P, Willaert A. Boel A, et al. Among authors: willaert a. Sci Rep. 2016 Jul 27;6:30330. doi: 10.1038/srep30330. Sci Rep. 2016. PMID: 27461955 Free PMC article.

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