Preimplantation genetic testing for more than one genetic condition: clinical and ethical considerations and dilemmas
van der Schoot, V, Dondorp, W, Dreesen, J C F M, Coonen, E, Paulussen, A D C, de Wert, G, de Die-Smulders, C E M
Published in Human reproduction (Oxford) (04.06.2019)
Published in Human reproduction (Oxford) (04.06.2019)
Get full text
Journal Article
Anthropometry, carbohydrate and lipid metabolism in the East Flanders Prospective Twin Survey: heritabilities
Souren, N. Y, Paulussen, A. D. C, Loos, R. J. F, Gielen, M, Beunen, G, Fagard, R, Derom, C, Vlietinck, R, Zeegers, M. P
Published in Diabetologia (01.10.2007)
Published in Diabetologia (01.10.2007)
Get full text
Journal Article
Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012
Mersy, E, Smits, L J M, van Winden, L A A P, de Die-Smulders, C E M, Paulussen, A D C, Macville, M V E, Coumans, A B C, Frints, S G M
Published in Human reproduction update (01.07.2013)
Published in Human reproduction update (01.07.2013)
Get full text
Journal Article
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
Koster, R., Brandão, R. D., Tserpelis, D., van Roozendaal, C. E. P., van Oosterhoud, C. N., Claes, K. B. M., Paulussen, A. D. C., Sinnema, M., Vreeburg, M., van der Schoot, V., Stumpel, C. T. R. M., Broen, M. P. G., Spruijt, L., Jongmans, M. C. J., Lesnik Oberstein, S. A. J., Plomp, A. S., Misra-Isrie, M., Duijkers, F. A., Louwers, M. J., Szklarczyk, R., Derks, K. W. J., Brunner, H. G., van den Wijngaard, A., van Geel, M., Blok, M. J.
Published in Npj genomic medicine (15.11.2021)
Published in Npj genomic medicine (15.11.2021)
Get full text
Journal Article
BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD
Derks-Smeets, I. A. P., van Tilborg, T. C., van Montfoort, A., Smits, L., Torrance, H. L., Meijer-Hoogeveen, M., Broekmans, F., Dreesen, J. C. F. M., Paulussen, A. D. C., Tjan-Heijnen, V. C. G., Homminga, I., van den Berg, M. M. J., Ausems, M. G. E. M., de Rycke, M., de Die-Smulders, C. E. M., Verpoest, W., van Golde, R.
Published in Journal of assisted reproduction and genetics (01.11.2017)
Published in Journal of assisted reproduction and genetics (01.11.2017)
Get full text
Journal Article
Hotspots of large rare deletions in the human genome
Bradley, W Edward C, Raelson, John V, Dubois, Daniel Y, Godin, Eric, Fournier, Hélène, Privé, Charles, Allard, René, Pinchuk, Vadym, Lapalme, Micheline, Paulussen, René J A, Belouchi, Abdelmajid
Published in PloS one (25.02.2010)
Published in PloS one (25.02.2010)
Get full text
Journal Article
Postzygotic mosaicism in basal cell naevus syndrome
Reinders, M.G.H.C., Boersma, H.J., Leter, E.M., Vreeburg, M., Paulussen, A.D.C., Arits, A.H.M.M., Roemen, G.M.J.M., Speel, E.J.M., Steijlen, P.M., Geel, M., Mosterd, K.
Published in British journal of dermatology (1951) (01.07.2017)
Published in British journal of dermatology (1951) (01.07.2017)
Get full text
Journal Article
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function
Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M
Published in Journal of medical genetics (01.06.2009)
Published in Journal of medical genetics (01.06.2009)
Get full text
Journal Article
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome
Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A.D.C., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., de Die-Smulders, C.E., Gardeitchik, T., van Putten, W.K., Perez, M.J., Musizzano, Y., Razavi, F., Drunat, S., Verloes, A., Hennekam, R., Guibaud, L., Alix, E., Sanlaville, D., Lesca, G., Edery, P.
Published in Clinical genetics (01.12.2016)
Published in Clinical genetics (01.12.2016)
Get full text
Journal Article
Common SNPs in LEP and LEPR associated with birth weight and type 2 diabetes-related metabolic risk factors in twins [Erratum: 2008, v. 32, no. 8 p. 1335-1336.] [Erratum: 2008 Nov., v. 32, no. 11, p. 1745-1746.]
Souren, N.Y, Paulussen, A.D, Steyls, A, Loos, R.J, Stassen, A.P, Gielen, M, Smeets, H.J, Beunen, G, Fagard, R, Derom, C
Published in International Journal of Obesity (01.08.2008)
Published in International Journal of Obesity (01.08.2008)
Get full text
Journal Article
Modeling Genetic and Environmental Factors to Increase Heritability and Ease the Identification of Candidate Genes for Birth Weight: A Twin Study
Gielen, M., Lindsey, P. J., Derom, C., Smeets, H. J. M., Souren, N. Y., Paulussen, A. D. C., Derom, R., Nijhuis, J. G.
Published in Behavior genetics (01.01.2008)
Published in Behavior genetics (01.01.2008)
Get full text
Journal Article
Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
Solomon, Benjamin D, Lacbawan, Felicitas, Mercier, Sandra, Clegg, Nancy J, Delgado, Mauricio R, Rosenbaum, Kenneth, Dubourg, Christèle, David, Veronique, Olney, Ann Haskins, Wehner, Lars-Erik, Hehr, Ute, Bale, Sherri, Paulussen, Aimee, Smeets, Hubert J, Hardisty, Emily, Tylki-Szymanska, Anna, Pronicka, Ewa, Clemens, Michelle, McPherson, Elizabeth, Hennekam, Raoul C M, Hahn, Jin, Stashinko, Elaine, Levey, Eric, Wieczorek, Dagmar, Roeder, Elizabeth, Schell-Apacik, Chayim Can, Booth, Carol W, Thomas, Ronald L, Kenwrick, Sue, Cummings, Derek A T, Bous, Sophia M, Keaton, Amelia, Balog, Joan Z, Hadley, Donald, Zhou, Nan, Long, Robert, Vélez, Jorge I, Pineda-Alvarez, Daniel E, Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Published in Journal of medical genetics (01.08.2010)
Published in Journal of medical genetics (01.08.2010)
Get full text
Journal Article
Association between the IL6-174G/C SNP and maximally attained lung function
van den Borst, B, Souren, N Y, Gielen, M, Loos, R J F, Paulussen, A D C, Derom, C, Schols, A M W J, Zeegers, M P A
Published in Thorax (01.02.2011)
Published in Thorax (01.02.2011)
Get full text
Journal Article
Parent-of-origin specific linkage and association of the IGF2 gene region with birth weight and adult metabolic risk factors
Souren, N.Y, Paulussen, A.D.C, Steyls, A, Loos, R.J.F, Brandao, R.D, Gielen, M, Smeets, H.J.M, Beunen, G, Fagard, R, Derom, C, Vlietinck, R, Geraedts, J.P, Zeegers, M.P
Published in International Journal of Obesity (01.09.2009)
Published in International Journal of Obesity (01.09.2009)
Get full text
Journal Article
Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection
van Harssel, J. J. T., van Roozendaal, C. E. P., Detisch, Y., Brandão, R. D., Paulussen, A. D. C., Zeegers, M., Blok, M. J., Gómez García, E. B.
Published in Familial cancer (01.06.2010)
Published in Familial cancer (01.06.2010)
Get full text
Journal Article
A single hERG mutation underlying a spectrum of acquired and congenital long QT syndrome phenotypes
Saenen, J.B, Paulussen, A.D.C, Jongbloed, R.J, Marcelis, C.L, Gilissen, R.A.H.J, Aerssens, J, Snyders, D.J, Raes, A.L
Published in Journal of molecular and cellular cardiology (01.07.2007)
Published in Journal of molecular and cellular cardiology (01.07.2007)
Get full text
Journal Article
Common SNPs in LEP and LEPR associated with birth weight and type 2 diabetes-related metabolic risk factors in twins
Smeets, H.J, Derom, C, Loos, R.J, Stassen, A.P, Paulussen, A.D, Steyls, A, Zeegers, M.P, Souren, N.Y, Gielen, M, Geraedts, J.P, Vlietinck, R, Fagard, R, Beunen, G
Published in International Journal of Obesity (01.11.2008)
Published in International Journal of Obesity (01.11.2008)
Get full text
Journal Article
P-562 Molecular aspects of preimplantation genetic testing (PGT) for Neurofibromatosis type 1 (NF1) in three large European PGT centers: challenges and pitfalls
Vernimmen, V, De Rycke, M, Moutou, C, Dreesen, J, De Die-Smulders, C, Paulussen, A
Published in Human reproduction (Oxford) (03.07.2024)
Published in Human reproduction (Oxford) (03.07.2024)
Get full text
Journal Article
P-493 Navigating the landscape of reproductive genetic literacy: insights from healthcare professionals
Naghdi, M, Heijlligers, M, Van Golde, R, Destouni, A, Janssen, A, Reyneke, M, Essers, R, Paulussen, A, Van der Lugt, A, Ruiter, R, Salumets, A, Zamani Esteki, M
Published in Human reproduction (Oxford) (03.07.2024)
Published in Human reproduction (Oxford) (03.07.2024)
Get full text
Journal Article
O-270 Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
Janssen, A, Koeck, R, Essers, R, Van Dijk, W, Drüsedau, M, Meekels, J, Yaldiz, B, Van de Vorst, M, Dreesen, J, De Die-Smulders, C, Coonen, E, Brunner, H, Van den Wijngaard, A, Paulussen, A, Zamani Esteki, M
Published in Human reproduction (Oxford) (03.07.2024)
Published in Human reproduction (Oxford) (03.07.2024)
Get full text
Journal Article