Laatste update: 08/03/2016

Wetenschappelijke publicaties


Publicaties 2013

De Bruyn C, Vanderhasselt T, Tanyalçin I, Keymolen K, Van Rompaey KL, De
Meirleir L, Jansen AC. Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature. Eur J Paediatr Neurol. 2014 May;18(3):420-6. doi: 10.1016/j.ejpn.2013.11.010. Epub 2013 Dec 6. Review. PubMed PMID: 24388699.

Fauser BC, Devroey P, Diedrich K, Balaban B, Bonduelle M, Delemarre-van de
Waal HA, Estella C, Ezcurra D, Geraedts JP, Howles CM, Lerner-Geva L, Serna J, Wells D; Evian Annual Reproduction (EVAR) Workshop Group 2011. Health outcomes of children born after IVF/ICSI: a review of current expert opinion and literature. Reprod Biomed Online. 2014 Feb;28(2):162-82. doi: 10.1016/j.rbmo.2013.10.013. Epub 2013 Oct 25. Review. PubMed PMID: 24365026.

Harper JC, Geraedts J, Borry P, Cornel MC, Dondorp W, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; ESHG; ESHRE; EuroGentest2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology. Eur J Hum Genet. 2013 Nov;21 Suppl 2:S1-21. doi: 10.1038/ejhg.2013.219. PubMed PMID: 24225486; PubMed Central PMCID:PMC3831061.

Belva F, Painter RC, Schiettecatte J, Bonduelle M, Roelants M, Roseboom TJ, Tournaye H, De Schepper J. Gender-specific alterations in salivary cortisol levels in pubertal intracytoplasmic sperm injection offspring. Horm Res Paediatr. 2013;80(5):350-5. doi: 10.1159/000355515. Epub 2013 Nov 7. PubMed PMID: 24217344.

Brady PD, Delle Chiaie B, Christenhusz G, Dierickx K, Van Den Bogaert K,
Menten B, Janssens S, Defoort P, Roets E, Sleurs E, Keymolen K, De Catte L,
Deprest J, de Ravel T, Van Esch H, Fryns JP, Devriendt K, Vermeesch JR. A
prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors. Genet Med. 2014 Jun;16(6):469-76. doi: 10.1038/gim.2013.168. Epub 2013 Oct 31. PubMed PMID:24177055.

Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT, Meinke P, Schröder W, Cormier-Daire V, Sznajer Y, Amor DJ, Lagerstedt K, Biervliet M, van den Akker PC, Cau P, Roll P, Lévy N, Badens C, Wehnert M, De Sandre-Giovannoli A. New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update. Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30. PubMed PMID: 24169522; PubMed Central PMCID: PMC4350588.

Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L. Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2). Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi:10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28. PubMed PMID: 23816342.

Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A. Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency. J Inherit Metab Dis. 2014 Jan;37(1):53-62. doi:10.1007/s10545-013-9620-4. Epub 2013 Jun 18. PubMed PMID: 23774949.

Tanyalçin I, Verhelst H, Halley DJ, Vanderhasselt T, Villard L, Goizet C, Lissens W, Mancini GM, Jansen AC. Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review. Eur J Paediatr Neurol. 2013 Nov;17(6):666-70. doi: 10.1016/j.ejpn.2013.05.002. Epub 2013 Jun 4. Review. PubMed PMID: 23755938.

De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects. Phytother Res. 2014 Feb;28(2):312-6. doi: 10.1002/ptr.4988. Epub 2013 Apr 26. PubMed PMID: 23620374.

Amrom D, Tanyalçin I, Verhelst H, Deconinck N, Brouhard GJ, Décarie JC, Vanderhasselt T, Das S, Hamdan FF, Lissens W, Michaud JL, Jansen AC. Polymicrogyria with dysmorphic basal ganglia? Think tubulin! Clin Genet. 2014 Feb;85(2):178-83. doi: 10.1111/cge.12141. Epub 2013 Apr 24. PubMed PMID:23495813.

ESHRE Capri Workshop Group. Failures (with some successes) of assisted reproduction and gamete donation programs. Hum Reprod Update. 2013 Jul-Aug;19(4):354-65. doi: 10.1093/humupd/dmt007. Epub 2013 Mar 3. PubMed PMID:23459992.

Singhi P, De Meirleir L, Lissens W, Singhi S, Saini AG. Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation. JIMD Rep. 2013;10:107-11. doi: 10.1007/8904_2012_211. Epub 2013 Feb 12. PubMed PMID: 23430811; PubMed Central PMCID: PMC3755565.

De Brakeleer S, De Grève J, Lissens W, Teugels E. Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example. Hum Mutat. 2013 May;34(5):785-91. doi: 10.1002/humu.22297. Epub 2013 Mar 11. PubMed PMID: 23420552.

de Die-Smulders CE, de Wert GM, Liebaers I, Tibben A, Evers-Kiebooms G. Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections. Hum Reprod Update. 2013 May-Jun;19(3):304-15. doi: 10.1093/humupd/dms058. Epub 2013 Feb 1. Review. PubMed PMID: 23377865.

van Rij MC, de Koning Gans PA, van Belzen MJ, Roos RA, Geraedts JP, De Rademaeker M, Bijlsma EK, de Die-Smulders CE. The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008). Clin Genet. 2014 Jan;85(1):87-95. doi: 10.1111/cge.12089. Epub 2013 Mar 21. PubMed PMID: 23350580.

Van Haute L, Spits C, Geens M, Seneca S, Sermon K. Human embryonic stem cells commonly display large mitochondrial DNA deletions. Nat Biotechnol. 2013 Jan;31(1):20-3. doi: 10.1038/nbt.2473. PubMed PMID: 23302926.

Seneca SM, Rabideau AJ. Natural zeolite permeable treatment wall for removing Sr-90 from groundwater. Environ Sci Technol. 2013 Feb 5;47(3):1550-6. doi: 10.1021/es304008r. Epub 2013 Jan 17. PubMed PMID: 23276160.