Laatste update: 02/12/2016

Wetenschappelijke publicaties


Publicaties 2012

De Paepe C, Cauffman G, Verloes A, Sterckx J, Devroey P, Tournaye H, Liebaers I, Van de Velde H. Human trophectoderm cells are not yet committed. Hum Reprod.2013 Mar;28(3):740-9. doi: 10.1093/humrep/des432. Epub 2012 Dec 19. PubMed PMID: 23257394.

Ullmann U, Unuane D, Velkeniers B, Lissens W, Wuyts W, Bonduelle M. A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype. Eur J Hum Genet. 2013 Jun;21(6):695-7. doi: 10.1038/ejhg.2012.241. Epub 2012 Nov 28. PubMed PMID: 23188049; PubMed Central PMCID: PMC3658184.

Deans Z, Fiorentino F, Biricik A, Traeger-Synodinos J, Moutou C, De Rycke M, Renwick P, Sengupta S, Goossens V, Harton G. The experience of 3 years of external quality assessment of pre-implantation genetic diagnosis for cystic fibrosis. Eur J Hum Genet. 2013 Aug;21(8):800-6. doi: 10.1038/ejhg.2012.244. Epub 2012 Nov 14. PubMed PMID: 23150080; PubMed Central PMCID: PMC3722667.

Anckaert E, De Rycke M, Smitz J. Culture of oocytes and risk of imprinting
defects. Hum Reprod Update. 2013 Jan-Feb;19(1):52-66. doi: 10.1093/humupd/dms042. Epub 2012 Oct 10. Review. PubMed PMID: 23054129.

Losekoot M, van Belzen MJ, Seneca S, Bauer P, Stenhouse SA, Barton DE; European Molecular Genetic Quality Network (EMQN). EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease. Eur J Hum Genet. 2013 May;21(5):480-6. doi: 10.1038/ejhg.2012.200. Epub 2012 Sep 19. PubMed PMID: 22990145; PubMed Central PMCID: PMC3641377.

Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M. Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. doi: 10.1093/hmg/dds386. Epub 2012 Sep 13. PubMed PMID: 22983954.

Seneca S, Lissens W, Endels K, Caljon B, Bonduelle M, Keymolen K, De Rademaeker M, Ullmann U, Haentjens P, Van Berkel K, Van Dooren S. Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time. J Mol Diagn. 2012 Nov;14(6):560-8. doi:10.1016/j.jmoldx.2012.05.003. Epub 2012 Aug 23. PubMed PMID: 22921311.

Kasapkara CS, Tümer L, Küçükçongar A, Hasanoğlu A, Seneca S, De Meirleir L. DGUOK-related mitochondrial DNA depletion syndrome in a child with an early diagnosis of glycogen storage disease. J Pediatr Gastroenterol Nutr. 2013 Nov;57(5):e28-9. doi: 10.1097/MPG.0b013e31826bd4ed. PubMed PMID: 22868686.

Belva F, Roelants M, De Schepper J, Roseboom TJ, Bonduelle M, Devroey P, Painter RC. Blood pressure in ICSI-conceived adolescents. Hum Reprod. 2012 Oct;27(10):3100-8. doi: 10.1093/humrep/des259. Epub 2012 Jul 18. PubMed PMID: 22814483.

Mussche S, De Paepe B, Smet J, Devreese K, Lissens W, Rasic VM, Murnane M, Devreese B, Van Coster R. Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms. Muscle Nerve. 2012 Aug;46(2):246-56. doi: 10.1002/mus.23306. PubMed PMID: 22806374.

Martindale JE, Seneca S, Wieczorek S, Sequeiros J. Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations. Hum Mutat. 2012 Sep;33(9):1359-65. doi: 10.1002/humu.22156. Epub 2012 Aug 1. PubMed PMID: 22753119.
De Paepe B, Smet J, Vanlander A, Seneca S, Lissens W, De Meirleir L, Vandewoestyne M, Deforce D, Rodenburg RJ, Van Coster R. Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects. Pediatr Res. 2012 Sep;72(3):232-40. doi: 10.1038/pr.2012.84. Epub 2012 Jun 22. PubMed PMID: 22728747.

Kroos M, Hoogeveen-Westerveld M, Michelakakis H, Pomponio R, Van der Ploeg A, Halley D, Reuser A; GAA Database Consortium. Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108. Epub 2012 May 29. PubMed PMID: 22644586.

MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington's disease. Clin Genet. 2013 Mar;83(3):221-31. doi:10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. PubMed PMID: 22642570.

Stouffs K, Lissens W. X chromosomal mutations and spermatogenic failure. Biochim Biophys Acta. 2012 Dec;1822(12):1864-72. doi: 10.1016/j.bbadis.2012.05.012. Epub 2012 May 23. Review. PubMed PMID: 22634129.

ESHRE Capri Workshop Group. Health and fertility in World Health Organization group 2 anovulatory women. Hum Reprod Update. 2012 Sep-Oct;18(5):586-99. doi:10.1093/humupd/dms019. Epub 2012 May 19. Review. PubMed PMID: 22611175.

Bonduelle M, Mannaerts B, Leader A, Bergh C, Passier D, Devroey P.
Prospective follow-up of 838 fetuses conceived after ovarian stimulation with corifollitropin alfa: comparative and overall neonatal outcome. Hum Reprod. 2012 Jul;27(7):2177-85. doi: 10.1093/humrep/des156. Epub 2012 May 15. PubMed PMID:22587997.

Goossens V, Traeger-Synodinos J, Coonen E, De Rycke M, Moutou C, Pehlivan T, Derks-Smeets IA, Harton G. ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009. Hum Reprod.2012 Jul;27(7):1887-911. doi: 10.1093/humrep/des106. Epub 2012 May 8. PubMed PMID: 22572107.

Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, SenGupta SB, Pehlivan Budak T, Renwick P, De Rycke M, Geraedts JP, Harton G. The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update. 2012 May-Jun;18(3):234-47. doi: 10.1093/humupd/dmr052. Epub 2012 Feb 16. Review. PubMed PMID: 22343781.

Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L. Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. Eur J Paediatr Neurol. 2012 Sep;16(5):542-8. doi: 10.1016/j.ejpn.2012.01.013. Epub 2012 Feb 17. PubMed PMID: 22342071.

Belva F, Roelants M, Painter R, Bonduelle M, Devroey P, De Schepper J.
Pubertal development in ICSI children. Hum Reprod. 2012 Apr;27(4):1156-61. doi: 10.1093/humrep/des001. Epub 2012 Feb 10. PubMed PMID: 22328555.

Vanlander AV, Jorens PG, Smet J, De Paepe B, Verbrugghe W, Van den Eynden GG, Meire F, Pauwels P, Van der Aa N, Seneca S, Lissens W, Okun JG, Van Coster R. Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome. Acta Anaesthesiol Scand. 2012 Apr;56(4):520-5. doi: 10.1111/j.1399-6576.2011.02628.x. Epub 2012 Jan 19. PubMed PMID: 22260353.

Stouffs K, Vandermaelen D, Massart A, Menten B, Vergult S, Tournaye H, Lissens W. Array comparative genomic hybridization in male infertility. Hum Reprod. 2012 Mar;27(3):921-9. doi: 10.1093/humrep/der440. Epub 2012 Jan 11. PubMed PMID: 22238114.