Laatste update: 02/12/2016

Wetenschappelijke publicaties


Publicaties 2004

Tulinius M, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E. A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. Eur J Pediatr. 2005 Feb;164(2):99-103. Epub 2004 Nov 19. PubMed PMID: 15558317.

Meulemans A, Lissens W, Van Coster R, De Meirleir L, Smet J, Nassogne MC, Liebaers I, Seneca S. Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency. Eur J Paediatr Neurol. 2004;8(6):299-306. PubMed PMID: 15542384.

Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, Devroey P, Liebaers I, Van Steirteghem A. Comparison of blastocyst transfer with or without pre-implantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod. 2004 Dec;19(12):2849-58. Epub 2004 Oct 7. PubMed PMID: 15471934.

Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet. 2004 Dec;12(12):993-1000. PubMed PMID: 15367911.

Ponjaert-Kristoffersen I, Tjus T, Nekkebroeck J, Squires J, Verté D, Heimann M, Bonduelle M, Palermo G, Wennerholm UB; Collaborative study of Brussels, Göteborg and New York. Psychological follow-up study of 5-year-old ICSI children. Hum Reprod. 2004 Dec;19(12):2791-7. Epub 2004 Sep 9. PubMed PMID: 15358721.

Seneca S, Fagnart D, Keymolen K, Lissens W, Hasaerts D, Debulpaep S, Desprechins B, Liebaers I, De Meirleir L. Early onset Huntington disease: a neuronal degeneration syndrome. Eur J Pediatr. 2004 Dec;163(12):717-21. PubMed PMID: 15338298.

Bonduelle M, Bergh C, Niklasson A, Palermo GD, Wennerholm UB; Collaborative Study Group of Brussels, Gothenburg and New York. Medical follow-up study of 5-year-old ICSI children. Reprod Biomed Online. 2004 Jul;9(1):91-101. PubMed PMID: 15257828.

De Temmerman N, Sermon K, Seneca S, De Rycke M, Hilven P, Lissens W, Van Steirteghem A, Liebaers I. Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and pre-implantation embryos. Am J Hum Genet. 2004 Aug;75(2):325-9. Epub 2004 Jun 7. PubMed PMID: 15185171; PubMed Central PMCID: PMC1216067.

Giannouli C, Goulis DG, Lambropoulos A, Lissens W, Tarlatzis BC, Bontis JN, Papadimas J. Idiopathic non-obstructive azoospermia or severe oligozoospermia: a cross-sectional study in 61 Greek men. Int J Androl. 2004 Apr;27(2):101-7. PubMed PMID: 15149468.

Sermon K, Van Steirteghem A, Liebaers I. Pre-implantation genetic diagnosis. Lancet. 2004 May 15;363(9421):1633-41. Review. PubMed PMID: 15145639.

Platteau P, Staessen C, Michiels A, Tournaye H, Van Steirteghem A, Liebaers I, Devroey P. Comparison of the aneuploidy frequency in embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men. Hum Reprod. 2004 Jul;19(7):1570-4. Epub 2004 May 13. PubMed PMID: 15142999.

Barnes J, Sutcliffe AG, Kristoffersen I, Loft A, Wennerholm U, Tarlatzis BC, Kantaris X, Nekkebroeck J, Hagberg BS, Madsen SV, Bonduelle M; European Study. The influence of assisted reproduction on family functioning and children's socio-emotional development: results from a European study. Hum Reprod. 2004 Jun;19(6):1480-7. Epub 2004 Apr 22. PubMed PMID: 15105405.

Vanderborght M, Nassogne MC, Hermans D, Moniotte S, Seneca S, Van Coster R, Buts JP, Sokal EM. Intractable ulcerative colitis of infancy in a child with mitochondrial respiratory chain disorder. J Pediatr Gastroenterol Nutr. 2004 Mar;38(3):355-7. PubMed PMID: 15076640.

Vernaeve V, Staessen C, Verheyen G, Van Steirteghem A, Devroey P, Tournaye H. Can biological or clinical parameters predict testicular sperm recovery in 47,XXY Klinefelter's syndrome patients? Hum Reprod. 2004 May;19(5):1135-9. Epub 2004 Apr 7. PubMed PMID: 15070870.

Tanner SM, Li Z, Bisson R, Acar C, Oner C, Oner R, Cetin M, Abdelaal MA, Ismail EA, Lissens W, Krahe R, Broch H, Gräsbeck R, de la Chapelle A. Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. Hum Mutat. 2004 Apr;23(4):327-33. PubMed PMID: 15024727.

Van de Velde H, Georgiou I, De Rycke M, Schots R, Sermon K, Lissens W, Devroey P, Van Steirteghem A, Liebaers I. Novel universal approach for pre-implantation genetic diagnosis of beta-thalassaemia in combination with HLA matching of embryos. Hum Reprod. 2004 Mar;19(3):700-8. Epub 2004 Jan 29. PubMed PMID: 14998973.

Sermijn E, Goelen G, Teugels E, Kaufman L, Bonduelle M, Neyns B, Poppe B, De Paepe A, De Grève J. The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation. J Med Genet. 2004 Mar;41(3):e23. PubMed PMID: 14985394; PubMed Central PMCID: PMC1735692.

De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet. 2004 Feb;41(2):120-4. PubMed PMID: 14757859; PubMed Central PMCID: PMC1735674.

De Rycke M. Imprinting. Adv Exp Med Biol. 2003;544:159-68. Review. PubMed PMID: 14713226.

Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology. 2003 Dec 23;61(12):1811-3. PubMed PMID: 14694057.

Pennings G, Bonduelle M, Liebaers I. Decisional authority and moral responsibility of patients and clinicians in the context of pre-implantation genetic diagnosis. Reprod Biomed Online. 2003 Nov;7(5):509-13. PubMed PMID: 14686350.

Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, Fryns JP. Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet. 2004 Mar;12(3):238-40. PubMed PMID: 14679397.

Charlesworth A, Gagnoux-Palacios L, Bonduelle M, Ortonne JP, De Raeve L, Meneguzzi G. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. J Invest Dermatol. 2003 Dec;121(6):1344-8. PubMed PMID: 14675180.

Stouffs K, Lissens W, Verheyen G, Van Landuyt L, Goossens A, Tournaye H, Van Steirteghem A, Liebaers I. Expression pattern of the Y-linked PRY gene suggests a function in apoptosis but not in spermatogenesis. Mol Hum Reprod. 2004 Jan;10(1):15-21. PubMed PMID: 14665702.

Simpson JL, de la Cruz F, Swerdloff RS, Samango-Sprouse C, Skakkebaek NE, Graham JM Jr, Hassold T, Aylstock M, Meyer-Bahlburg HF, Willard HF, Hall JG, Salameh W, Boone K, Staessen C, Geschwind D, Giedd J, Dobs AS, Rogol A, Brinton B, Paulsen CA. Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med. 2003 Nov-Dec;5(6):460-8. PubMed PMID: 14614399.

Chrzanowska-Lightowlers ZM, Temperley RJ, Smith PM, Seneca SH, Lightowlers RN. Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons. Biochem J. 2004 Feb 1;377(Pt 3):725-31. PubMed PMID: 14585098; PubMed Central PMCID: PMC1223913.