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Items: 41

1.

Publisher Correction: 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.

Sci Rep. 2018 Oct 29;8(1):15845. doi: 10.1038/s41598-018-33869-y.

2.

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments.

Boel A, De Saffel H, Steyaert W, Callewaert B, De Paepe A, Coucke PJ, Willaert A.

Dis Model Mech. 2018 Oct 18;11(10). pii: dmm035352. doi: 10.1242/dmm.035352.

3.

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0035-3. [Epub ahead of print]

PMID:
30201961
4.

BATCH-GE: Analysis of NGS Data for Genome Editing Assessment.

Steyaert W, Boel A, Coucke P, Willaert A.

Methods Mol Biol. 2018;1865:83-90. doi: 10.1007/978-1-4939-8784-9_6.

PMID:
30151760
5.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.

Gistelinck C, Kwon RY, Malfait F, Symoens S, Harris MP, Henke K, Hawkins MB, Fisher S, Sips P, Guillemyn B, Bek JW, Vermassen P, De Saffel H, Witten PE, Weis M, De Paepe A, Eyre DR, Willaert A, Coucke PJ.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8037-E8046. doi: 10.1073/pnas.1722200115. Epub 2018 Aug 6.

6.

Generation and Validation of a Complete Knockout Model of abcc6a in Zebrafish.

Van Gils M, Willaert A, De Vilder EYG, Coucke PJ, Vanakker OM.

J Invest Dermatol. 2018 Nov;138(11):2333-2342. doi: 10.1016/j.jid.2018.06.183. Epub 2018 Jul 17.

PMID:
30030150
7.

Expressed repetitive elements are broadly applicable reference targets for normalization of reverse transcription-qPCR data in mice.

Renard M, Vanhauwaert S, Vanhomwegen M, Rihani A, Vandamme N, Goossens S, Berx G, Van Vlierberghe P, Haigh JJ, Decaesteker B, Van Laere J, Lambertz I, Speleman F, Vandesompele J, Willaert A.

Sci Rep. 2018 May 16;8(1):7642. doi: 10.1038/s41598-018-25389-6.

8.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.

Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print] Erratum in: Genet Med. 2018 Sep 10;:.

PMID:
29323665
9.

Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm.

Vierstraete J, Willaert A, Vermassen P, Coucke PJ, Vral A, Claes KBM.

Sci Rep. 2017 Nov 28;7(1):16518. doi: 10.1038/s41598-017-16725-3.

10.

MicroCT-Based Phenomics in the Zebrafish Skeleton Reveals Virtues of Deep Phenotyping in a Distributed Organ System.

Hur M, Gistelinck CA, Huber P, Lee J, Thompson MH, Monstad-Rios AT, Watson CJ, McMenamin SK, Willaert A, Parichy DM, Coucke P, Kwon RY.

Zebrafish. 2018 Feb;15(1):77-78. doi: 10.1089/zeb.2017.1540. Epub 2017 Nov 27. No abstract available.

PMID:
29173118
11.

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O, Symoens S, Fannana M, Darwish M, Farraj M, Willaert A, Essawi T, Callewaert B, De Paepe A, Malfait F, Coucke PJ.

Mol Genet Genomic Med. 2018 Jan;6(1):15-26. doi: 10.1002/mgg3.331. Epub 2017 Nov 18.

12.

MicroCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system.

Hur M, Gistelinck CA, Huber P, Lee J, Thompson MH, Monstad-Rios AT, Watson CJ, McMenamin SK, Willaert A, Parichy DM, Coucke P, Kwon RY.

Elife. 2017 Sep 8;6. pii: e26014. doi: 10.7554/eLife.26014.

13.

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

Gamberucci A, Marcolongo P, Németh CE, Zoppi N, Szarka A, Chiarelli N, Hegedűs T, Ritelli M, Carini G, Willaert A, Callewaert BL, Coucke PJ, Benedetti A, Margittai É, Fulceri R, Bánhegyi G, Colombi M.

Int J Mol Sci. 2017 Aug 22;18(8). pii: E1820. doi: 10.3390/ijms18081820.

14.

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome.

Gistelinck C, Witten PE, Huysseune A, Symoens S, Malfait F, Larionova D, Simoens P, Dierick M, Van Hoorebeke L, De Paepe A, Kwon RY, Weis M, Eyre DR, Willaert A, Coucke PJ.

J Bone Miner Res. 2016 Nov;31(11):1930-1942. doi: 10.1002/jbmr.2977. Epub 2016 Oct 24.

15.

CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis.

Naert T, Colpaert R, Van Nieuwenhuysen T, Dimitrakopoulou D, Leoen J, Haustraete J, Boel A, Steyaert W, Lepez T, Deforce D, Willaert A, Creytens D, Vleminckx K.

Sci Rep. 2016 Oct 14;6:35264. doi: 10.1038/srep35264.

16.

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.

Loos E, Verhaert N, Willaert A, Devriendt K, Swillen A, Hermans R, Op de Beeck K, Hens G.

Am J Med Genet A. 2016 Nov;170(11):2975-2983. doi: 10.1002/ajmg.a.37872. Epub 2016 Sep 8.

PMID:
27604838
17.

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.

Sci Rep. 2016 Jul 27;6:30330. doi: 10.1038/srep30330. Erratum in: Sci Rep. 2018 Oct 29;8(1):15845.

18.

RT-qPCR gene expression analysis in zebrafish: Preanalytical precautions and use of expressed repetitive elements for normalization.

Vanhauwaert S, Lefever S, Coucke P, Speleman F, De Paepe A, Vandesompele J, Willaert A.

Methods Cell Biol. 2016;135:329-42. doi: 10.1016/bs.mcb.2016.02.002. Epub 2016 Mar 4.

PMID:
27443934
19.

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.

FEBS Lett. 2016 Jun;590(11):1630-40. doi: 10.1002/1873-3468.12204. Epub 2016 May 27.

20.
21.

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.

Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A.

Sci Rep. 2016 Feb 15;6:21540. doi: 10.1038/srep21540.

22.

Congenital sternoclavicular dermoid sinus.

Willaert A, Bruninx L, Hens G, Hauben E, Devriendt K, Vander Poorten V.

Int J Pediatr Otorhinolaryngol. 2016 Feb;81:65-7. doi: 10.1016/j.ijporl.2015.12.011. Epub 2015 Dec 30.

PMID:
26810293
23.

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.

Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi: 10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10.

24.

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.

Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.

PMID:
25841028
25.

Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies.

Vanhauwaert S, Van Peer G, Rihani A, Janssens E, Rondou P, Lefever S, De Paepe A, Coucke PJ, Speleman F, Vandesompele J, Willaert A.

PLoS One. 2014 Oct 13;9(10):e109091. doi: 10.1371/journal.pone.0109091. eCollection 2014.

26.

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B.

Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18.

PMID:
25232846
27.

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB.

Am J Hum Genet. 2014 May 1;94(5):649-61. doi: 10.1016/j.ajhg.2014.03.013. Epub 2014 Apr 10.

28.

Zebrafish models for ectopic mineralization disorders: practical issues from morpholino design to post-injection observations.

Hosen MJ, Vanakker OM, Willaert A, Huysseune A, Coucke P, De Paepe A.

Front Genet. 2013 May 8;4:74. doi: 10.3389/fgene.2013.00074. eCollection 2013.

29.

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.

Am J Hum Genet. 2013 Jun 6;92(6):935-45. doi: 10.1016/j.ajhg.2013.04.016. Epub 2013 May 9.

30.

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.

Hum Mol Genet. 2012 Mar 15;21(6):1248-59. doi: 10.1093/hmg/ddr555. Epub 2011 Nov 24.

31.

[Rating scales for assessing catatonia; which ones are the best?].

Rooseleer J, Willaert A, Sienaert P.

Tijdschr Psychiatr. 2011;53(5):287-98. Review. Dutch.

32.

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B.

J Bone Miner Res. 2011 Mar;26(3):666-72. doi: 10.1002/jbmr.250.

33.

Community health workers: part of the solution.

Rosenthal EL, Brownstein JN, Rush CH, Hirsch GR, Willaert AM, Scott JR, Holderby LR, Fox DJ.

Health Aff (Millwood). 2010 Jul;29(7):1338-42. doi: 10.1377/hlthaff.2010.0081.

PMID:
20606185
34.

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.

Hum Genet. 2010 Jul;128(1):79-88. doi: 10.1007/s00439-010-0829-0. Epub 2010 Apr 28.

PMID:
20424861
35.

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.

J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16.

PMID:
19088120
36.

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.

Genesis. 2008 Aug;46(8):385-9. doi: 10.1002/dvg.20409.

PMID:
18693279
37.

A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3.

Willaert A, Van Pottelbergh I, Zmierczak H, Goemaere S, Kaufman JM, De Paepe A, Coucke P.

Eur J Hum Genet. 2008 Aug;16(8):970-6. doi: 10.1038/ejhg.2008.31. Epub 2008 Feb 27.

38.

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.

Hum Mutat. 2008 Jan;29(1):150-8.

PMID:
17935213
39.

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.

Nat Genet. 2006 Apr;38(4):452-7. Epub 2006 Mar 19.

PMID:
16550171
40.

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.

J Bone Miner Res. 2005 Nov;20(11):1951-9. Epub 2005 Jul 11.

41.

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR.

Nat Genet. 2004 Nov;36(11):1213-8. Epub 2004 Oct 17.

PMID:
15489854

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