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Items: 1 to 50 of 91

1.

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.

2.

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
3.

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.

4.

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
5.

PATHOGENIC VARIANTS IN THE ABCC6 GENE ARE ASSOCIATED WITH AN INCREASED RISK FOR ISCHEMIC STROKE.

De Vilder EYG, Cardoen S, Hosen MJ, Le Saux O, De Zaeytijd J, Leroy BP, De Reuck J, Coucke PJ, De Paepe A, Hemelsoet D, Vanakker OM.

Brain Pathol. 2018 May 3. doi: 10.1111/bpa.12620. [Epub ahead of print]

PMID:
29722917
6.

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
7.

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.

8.

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.

9.

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M; University of Washington Center for Mendelian Genomics, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W.

Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778.

10.

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.

11.

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review.

Duz MB, Kirat E, Coucke PJ, Koparir E, Gezdirici A, Paepe A, Callewaert B, Seven M.

Clin Dysmorphol. 2017 Jul;26(3):142-147. doi: 10.1097/MCD.0000000000000179. Review.

PMID:
28383366
12.

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

Lauritsen KF, Lildballe DL, Coucke PJ, Monrad R, Larsen DA, Gregersen PA.

Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14.

PMID:
28315471
13.

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Symoens S, Steyaert W, Demuynck L, De Paepe A, Diderich KE, Malfait F, Coucke PJ.

Am J Med Genet A. 2017 Apr;173(4):1047-1050. doi: 10.1002/ajmg.a.38135. Epub 2017 Mar 6.

PMID:
28261977
14.

A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis.

Al-Haggar M, Bakr A, Wahba Y, Coucke PJ, El-Hussini F, Hafez M, Eid R, Eid AR, Sarhan A, Shaltout A, Hammad A, Yahia S, El-Rifaie A, Abdel-Hadi D.

Saudi J Kidney Dis Transpl. 2017 Jan-Feb;28(1):141-148. doi: 10.4103/1319-2442.198166.

15.

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.

16.

Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type.

Ott HW, Perkhofer S, Coucke PJ, de Paepe A, Spannagl M.

Haemophilia. 2016 Jul;22(4):e309-11. doi: 10.1111/hae.12931. Epub 2016 Jun 13. No abstract available.

PMID:
27292226
17.

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.

18.

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.

Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B; University of Washington Center for Mendelian Genomics, Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W.

BMC Med Genet. 2016 Feb 16;17:13. doi: 10.1186/s12881-016-0275-5.

19.

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

Ali RH, Shah K, Nasir A, Steyaert W, Coucke PJ, Ahmad W.

Clin Genet. 2016 Sep;90(3):263-9. doi: 10.1111/cge.12700. Epub 2016 Jan 19.

PMID:
26612766
20.

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.

Dis Markers. 2015;2015:828970. doi: 10.1155/2015/828970. Epub 2015 Oct 4.

21.

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.

22.

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.

Bianchi L, Gagliardi A, Maruelli S, Besio R, Landi C, Gioia R, Kozloff KM, Khoury BM, Coucke PJ, Symoens S, Marini JC, Rossi A, Bini L, Forlino A.

Hum Mol Genet. 2015 Nov 1;24(21):6118-33. doi: 10.1093/hmg/ddv328. Epub 2015 Aug 11.

23.

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
24.

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.

Essawi O, Farraj M, De Leeneer K, Steyaert W, De Pauw K, De Paepe A, Claes K, Essawi T, Coucke PJ.

Dis Markers. 2015;2015:458653. doi: 10.1155/2015/458653. Epub 2015 Jan 26.

25.

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.

J Bone Miner Res. 2015 Aug;30(8):1445-56. doi: 10.1002/jbmr.2473. Epub 2015 May 21.

26.

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.

27.

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum.

Hosen MJ, Van Nieuwerburgh F, Steyaert W, Deforce D, Martin L, Leftheriotis G, De Paepe A, Coucke PJ, Vanakker OM.

J Invest Dermatol. 2015 Apr;135(4):992-998. doi: 10.1038/jid.2014.421. Epub 2014 Sep 29.

28.

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, Dhooge I, De Paepe A, De Leenheer EM, Coucke PJ.

Mol Genet Metab. 2014 Nov;113(3):230-5. doi: 10.1016/j.ymgme.2014.09.001. Epub 2014 Sep 8.

PMID:
25240749
29.

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene.

Mehar V, Yadav D, Kumar R, Yadav S, Singh K, Callewaert B, Pathan S, De Paepe A, Coucke PJ.

J Pediatr Genet. 2014 Sep;3(3):163-6. doi: 10.3233/PGE-14093.

30.

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.

Symoens S, Hulmes DJ, Bourhis JM, Coucke PJ, De Paepe A, Malfait F.

Hum Mutat. 2014 Nov;35(11):1330-41. doi: 10.1002/humu.22677. Epub 2014 Oct 18.

PMID:
25146735
31.

Illumina sequencing of 15 deafness genes using fragmented amplicons.

Van Nieuwerburgh F, De Keulenaer S, De Schrijver J, Vandesompele J, Van Criekinge W, Coucke PJ, Deforce D.

BMC Res Notes. 2014 Aug 9;7:509. doi: 10.1186/1756-0500-7-509.

32.

An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant Failure.

Cosyn J, Christiaens V, Koningsveld V, Coucke PJ, De Coster P, De Paepe A, De Bruyn H.

Clin Implant Dent Relat Res. 2016 Apr;18(2):234-40. doi: 10.1111/cid.12237. Epub 2014 Jul 26.

PMID:
25066406
33.

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U.

Mol Genet Metab. 2014 Aug;112(4):310-6. doi: 10.1016/j.ymgme.2014.05.003. Epub 2014 May 21.

PMID:
24913064
34.

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum.

Hosen MJ, Coucke PJ, Le Saux O, De Paepe A, Vanakker OM.

Orphanet J Rare Dis. 2014 Apr 29;9:66. doi: 10.1186/1750-1172-9-66.

35.

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.

Roulez FM, Faes F, Delbeke P, Van Bogaert P, Rodesch G, De Zaeytijd J, Depasse F, Coucke PJ, Meire FM.

J Neuroophthalmol. 2014 Jun;34(2):137-43. doi: 10.1097/WNO.0000000000000090.

PMID:
24621862
36.

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL.

Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013.

37.

First report of the genetic background of Marfan syndrome in Polish patients.

Wypasek E, Potaczek DP, Stąpor R, Coucke PJ, De Backer J, De Paepe AM, Undas A.

Pol Arch Med Wewn. 2013;123(11):646-7. No abstract available.

38.

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.

Orphanet J Rare Dis. 2013 Sep 30;8:154. doi: 10.1186/1750-1172-8-154.

39.

Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

Janssen A, Hosen MJ, Jeannin P, Coucke PJ, De Paepe A, Vanakker OM.

Am J Med Genet A. 2013 Sep;161A(9):2352-7. doi: 10.1002/ajmg.a.36077. Epub 2013 Aug 5.

PMID:
23918290
40.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.

Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C.

Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36.

41.

Arterial tortuosity syndrome: case report.

Karakurt C, Koçak G, Elkiran O, Coucke PJ, Van Maldergem L.

Genet Couns. 2012;23(4):477-82.

PMID:
23431747
42.

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.

Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13.

43.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

van der Linde D, van de Laar IM, Bertoli-Avella AM, Oldenburg RA, Bekkers JA, Mattace-Raso FU, van den Meiracker AH, Moelker A, van Kooten F, Frohn-Mulder IM, Timmermans J, Moltzer E, Cobben JM, van Laer L, Loeys B, De Backer J, Coucke PJ, De Paepe A, Hilhorst-Hofstee Y, Wessels MW, Roos-Hesselink JW.

J Am Coll Cardiol. 2012 Jul 31;60(5):397-403. doi: 10.1016/j.jacc.2011.12.052. Epub 2012 May 23.

44.

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears.

Swinnen FK, De Leenheer EM, Coucke PJ, Cremers CW, Dhooge IJ.

Audiol Neurootol. 2012;17(3):198-206. doi: 10.1159/000336211. Epub 2012 Mar 7.

PMID:
22399015
45.

Association between bone mineral density and hearing loss in osteogenesis imperfecta.

Swinnen FK, De Leenheer EM, Goemaere S, Cremers CW, Coucke PJ, Dhooge IJ.

Laryngoscope. 2012 Feb;122(2):401-8. doi: 10.1002/lary.22408. Epub 2012 Jan 17.

PMID:
22252604
46.

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.

Swinnen FK, Coucke PJ, De Paepe AM, Symoens S, Malfait F, Gentile FV, Sangiorgi L, D'Eufemia P, Celli M, Garretsen TJ, Cremers CW, Dhooge IJ, De Leenheer EM.

Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88.

47.

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW.

J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382.

PMID:
22167769
48.

Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation.

Swinnen FK, Dhooge IJ, Coucke PJ, D'Eufemia P, Zardo F, Garretsen TJ, Cremers CW, De Leenheer EM.

Otol Neurotol. 2012 Feb;33(2):115-22. doi: 10.1097/MAO.0b013e31823e28e9.

PMID:
22143304
49.

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.

50.

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: evidence for a spectrum of ectopic calcification disorders?

Vanakker OM, Leroy BP, Schurgers LJ, Vermeer C, Coucke PJ, De Paepe A.

Am J Med Genet A. 2011 Nov;155A(11):2855-9. doi: 10.1002/ajmg.a.34264. Epub 2011 Sep 30.

PMID:
21964806

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