Laatste update: 02/12/2016

Wetenschappelijke publicaties


Publicaties 2015

Pintens S, Pierret L, Keymolen K, Gutermuth J, De Raeve L. Xeroderma pigmentosum and leukaemia in two sisters. J Eur Acad Dermatol Venereol. 2015 Oct 7. doi: 10.1111/jdv.13288. [Epub ahead of print] PubMed PMID: 26446056.

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. Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. Am J Hum Genet. 2015 Oct 1;97(4):521-34. doi:10.1016/j.ajhg.2015.08.009. Epub 2015 Sep 10. PubMed PMID: 26365339.

Peeters U, Scornik F, Riuró H, Pérez G, Komurcu-Bayrak E, Van Malderen S, Pappaert G, Tarradas A, Pagans S, Daneels D, Breckpot K, Brugada P, Bonduelle M, Brugada R, Van Dooren S. Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome. Circ J. 2015 Sep 25;79(10):2118-29. doi:10.1253/circj.CJ-15-0164. Epub 2015 Jul 15. PubMed PMID: 26179811.

De Rycke M, Belva F, Goossens V, Moutou C, SenGupta SB, Traeger-Synodinos J, Coonen E. ESHRE PGD Consortium data collection XIII: cycles from January to December 2010 with pregnancy follow-up to October 2011. Hum Reprod. 2015 Aug;30(8):1763-89. doi: 10.1093/humrep/dev122. Epub 2015 Jun 12. PubMed PMID:26071418.

Bissay V, Van Malderen SC, Keymolen K, Lissens W, Peeters U, Daneels D, Jansen AC, Pappaert G, Brugada P, De Keyser J, Van Dooren S. SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. Eur J Hum Genet. 2015 Jun 3. doi: 10.1038/ejhg.2015.125. [Epub ahead of print] PubMed PMID: 26036855.

Girardet A, Viart V, Plaza S, Daina G, De Rycke M, Des Georges M, Fiorentino F, Harton G, Ishmukhametova A, Navarro J, Raynal C, Renwick P, Saguet F, Schwarz M, SenGupta S, Tzetis M, Roux AF, Claustres M. The improvement of the best practice guidelines for pre-implantation genetic diagnosis of cystic fibrosis: toward an international consensus. Eur J Hum Genet. 2015 May 27. doi:10.1038/ejhg.2015.99. [Epub ahead of print] PubMed PMID: 26014425.

Zamani Esteki M, Dimitriadou E, Mateiu L, Melotte C, Van der Aa N, Kumar P, Das R, Theunis K, Cheng J, Legius E, Moreau Y, Debrock S, D'Hooghe T, Verdyck P, De Rycke M, Sermon K, Vermeesch JR, Voet T. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am J Hum Genet. 2015 Jun 4;96(6):894-912. doi: 10.1016/j.ajhg.2015.04.011. Epub 2015 May 14. PubMed PMID: 25983246; PubMed Central PMCID: PMC4473724.

Santos-Ribeiro S, Polyzos NP, Stouffs K, De Vos M, Seneca S, Tournaye H, Blockeel C. Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition. J Assist Reprod Genet. 2015 Jul;32(7):1063-8. doi: 10.1007/s10815-015-0498-y. Epub 2015 May 17. PubMed PMID: 25982422; PubMed Central PMCID: PMC4531869.

Debray FG, Stümpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R. Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy. J Inherit Metab Dis. 2015 May 14. [Epub ahead of print] PubMed PMID: 25971455.

Van Malderen SC, Kerkhove D, Theuns DA, Weytjens C, Droogmans S, Tanaka K, Daneels D, Van Dooren S, Meuwissen M, Bonduelle M, Brugada P, Van Camp G. Prolonged right ventricular ejection delay identifies high risk patients and gender differences in Brugada syndrome. Int J Cardiol. 2015 Jul 15;191:90-6. doi: 10.1016/j.ijcard.2015.04.243. Epub 2015 May 1. PubMed PMID: 25965611.

Verdyck P, Berckmoes V, De Vos A, Verpoest W, Liebaers I, Bonduelle M, De Rycke M. Chromosome fragility at FRAXA in human cleavage stage embryos at risk for fragile X syndrome. Am J Med Genet A. 2015 Oct;167(10):2306-13. doi:10.1002/ajmg.a.37149. Epub 2015 May 7. PubMed PMID: 25953684.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B,Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Front Genet. 2015 Apr 13;6:123. doi:10.3389/fgene.2015.00123. eCollection 2015. PubMed PMID: 25918518; PubMed Central PMCID: PMC4394698.

Orlando C, Heylen O, Lissens W, Jochmans K. Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia. Thromb Res. 2015 Jun;135(6):1179-85. doi: 10.1016/j.thromres.2015.03.013. Epub 2015 Mar 14. PubMed PMID: 25837307.

De Munck N, Petrussa L, Verheyen G, Staessen C, Vandeskelde Y, Sterckx J, Bocken G, Jacobs K, Stoop D, De Rycke M, Van de Velde H. Chromosomal meiotic segregation, embryonic developmental kinetics and DNA (hydroxy)methylation analysis consolidate the safety of human oocyte vitrification. Mol Hum Reprod. 2015 Jun;21(6):535-44. doi: 10.1093/molehr/gav013. Epub 2015 Mar 31. PubMed PMID:25833840.

Winter C, Van Acker F, Bonduelle M, Desmyttere S, Nekkebroeck J. Psychosocial development of full term singletons, born after pre-implantation genetic diagnosis (PGD) at preschool age and family functioning: a prospective case-controlled study and multi-informant approach. Hum Reprod. 2015 May;30(5):1122-36. doi:10.1093/humrep/dev036. Epub 2015 Mar 6. PubMed PMID: 25750104.

Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J. Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation. Biochem J. 2015 Mar 15;466(3):601-11. doi:10.1042/BJ20141462. PubMed PMID: 25588698.

De Vos A, Janssens R, Van de Velde H, Haentjens P, Bonduelle M, Tournaye H,
Verheyen G. The type of culture medium and the duration of in vitro culture do not influence birthweight of ART singletons. Hum Reprod. 2015 Jan;30(1):20-7. doi: 10.1093/humrep/deu286. Epub 2014 Nov 17. PubMed PMID: 25406185.

Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat. 2015 Feb;36(2):222-31. doi: 10.1002/humu.22728. PubMed PMID: 25385316.