Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Onderzoeksoutput
- 1 - 50 van 1.074 resultaten
Zoekresultaten
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2022
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology
Banka, S., Bennington, A., Baker, M. J., Rijckmans, E., Clemente, G. D., Ansor, N. M., Sito, H., Prasad, P., Anyane-Yeboa, K., Badalato, L., Dimitrov, B., Fitzpatrick, D., Hurst, A. C. E., Jansen, A. C., Kelly, M. A., Krantz, I., Rieubland, C., Ross, M., Rudy, N. L., Sanz, J. & 5 anderen, , 9 feb 2022, In: Brain.Onderzoeksoutput: Article › peer review
Open Access -
A FAIR Brugada Syndrome data repository to facilitate cardiogenetic research
Ruiz, M. M. T., Daneels, D., Pappaert, G., Cannaerts, E., de Ravel, T., de Asmundis, C., Sieira, J., Nowe, A., Brugrada, P., Olsen, C., Lenaerts, T. & Van Dooren, S., apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, blz. 185-185Onderzoeksoutput: Meeting abstract (Journal)
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Analysis of parental contribution for aneuploidy detection (APCAD): a novel method to detect aneuploidy and mosaicism in preimplantation embryos
Verdyck, P., Berckmoes, V., Van Laere, S., Keymolen, K., Olsen, C. & De Rycke, M., mrt 2022, In: Reproductive Biomedicine Online. 44, 3, blz. 459-468 10 blz.Onderzoeksoutput: Article › peer review
Open Access1 Citaat (Scopus) -
A randomized, controlled, first-in-patient trial of choriogonadotropin beta added to follitropin delta in women undergoing ovarian stimulation in a long GnRH agonist protocol
Rainbow Study Group , Fernández Sánchez, M., Višnová, H., Larsson, P., Yding Andersen, C., Filicori, M., Blockeel, C., Pinborg, A., Khalaf, Y. & Mannaerts, B., 1 jun 2022, In: Human Reproduction. 37, 6, blz. 1161-1174 14 blz.Onderzoeksoutput: Article › peer review
Open Access1 Citaat (Scopus) -
Artificially prepared vitrified-warmed embryo transfer cycles are associated with an increased risk of pre-eclampsia
Roelens, C., Racca, A., Mackens, S., Van Landuyt, L., Buelinckx, L., Gucciardo, L., Tournaye, H., De Vos, M. & Blockeel, C., mei 2022, In: Reproductive Biomedicine Online. 44, 5, blz. 915-922 8 blz.Onderzoeksoutput: Article › peer review
2 Citaten (Scopus) -
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
KORA-Study Group, 26 apr 2022, In: Nature Genetics. 54, 5, 8 blz., 735.Onderzoeksoutput: Article › peer review
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Barriers and Facilitators for Implementation of Patient Centered Care in Cardiogenetics: a Delphi study.
Van Pottelberghe, S., Heine, F., Van Dooren, S., Hes, F. J. & Kupper, N., 2022.Onderzoeksoutput: Poster
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Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to External Quality Assessment schemes for analyses focused on rare diseases
Lantoine, J., Brysse, A., Dideberg, V., Claes, K. B. M., Symoens, S., Coucke, W., Benoit, V., Rombout, S., De Rycke, M., Seneca, S., Van Laer, L., Wuyts, W., Corveleyn, A., Van den Bogaert, K., Rydlewski, C., Wilkin, F., Ravoet, M., Fastre, E., Capron, A. & Vandevelde, N. M., apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, blz. 472-472Onderzoeksoutput: Meeting abstract (Journal)
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Brugada Syndrome During Infancy and Childhood: 30 Years' Experience
Sieira, J., Ströker, E., Bala, G., Overeinder, I., Almorad, A., La Meir, M., Van Dooren, S., Brugada, P., Chierchia, G-B. & de Asmundis, C., 15 nov 2022, In: Journal of the American College of Cardiology. 80, 20, blz. 1961-1962 2 blz.Onderzoeksoutput: Letter › peer review
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Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset
Capiau, S., Smet, J., De Paepe, B., Yildiz, Y., Arslan, M., Stevens, O., Verschoore, M., Stepman, H., Seneca, S. & Vanlander, A., feb 2022, In: Cells. 11, 3, 18 blz., 489.Onderzoeksoutput: Article › peer review
Open Access1 Citaat (Scopus) -
Comparing the vaginal and endometrial microbiome in six subfertile women applying culturomics
Vanstokstraeten, R., Mackens, S., Callewaert, E., Blockeel, C., De Geyter, D., Muyldermans, A., Wybo, I., Pierard, D. & Demuyser, T., 2022.Onderzoeksoutput: Poster
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Comparison of the vaginal and endometrial microbiome applying culturomics: preliminary data of a case series
Vanstokstraeten, R., Mackens, S., Callewaert, E., Blockeel, C., De Geyter, D., Muyldermans, A., Wybo, I., Pierard, D. & Demuyser, T., 2022.Onderzoeksoutput: Poster
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Culturomics-generated vaginal and endometrial microbiome profiles in subfertile patients
Vanstokstraeten, R., Demuyser, T., Callewaert, E., Blockeel, C., Tournaye, H., De Geyter, D., Muyldermans, A., Wybo, I., Pierard, D. & Mackens, S., 2022.Onderzoeksoutput: Poster
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Culturomics to investigate the Endometrial Microbiome: Proof-of-Concept: Proof-of-Concept
Vanstokstraeten, R., Mackens, S., Callewaert, E., Blotwijk, S., Emmerechts, K., Crombé, F., Soetens, O., Wybo, I., Vandoorslaer, K., Mostert, L., De Geyter, D., Muyldermans, A., Blockeel, C., Piérard, D. & Demuyser, T., okt 2022, In: International Journal of Molecular Sciences. 23, 20, 21 blz., 12212.Onderzoeksoutput: Article › peer review
Open Access -
Cumulative live birth rate after ovarian stimulation with freeze-all in women with polycystic ovaries: does the polycystic ovary syndrome phenotype have an impact?
Mackens, S., Drakopoulos, P., Moeykens, M. F., Mostinckx, L., Boudry, L., Segers, I., Tournaye, H., Blockeel, C. & De Vos, M., mrt 2022, In: Reproductive Biomedicine Online. 44, 3, blz. 565-571 7 blz.Onderzoeksoutput: Article › peer review
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Does the dose or type of gonadotropins affect the reproductive outcomes of poor responders undergoing modified natural cycle IVF (MNC-IVF)?
Drakopoulos, P., Di Guardo, F., Boudry, L., Mackens, S., De Vos, M., Verheyen, G., Tournaye, H. & Blockeel, C., nov 2022, In: European Journal of Obstetrics, Gynecology and Reproductive Biology. 278, blz. 95-99 5 blz.Onderzoeksoutput: Article › peer review
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Dysfunctional CTDP1 impairs the cell cycle indicating its essential role in neurodevelopment
Yildirim, H., Dimitrov, B., Cannaerts, E., Sermon, K., Gheldof, A., Stouffs, K. & Jansen, A., 2022.Onderzoeksoutput: Poster
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Effect of A23187 ionophore treatment on human blastocyst development-a sibling oocyte study
Mateizel, I., Santos-Ribeiro, S., Segers, I., Wouters, K., Mackens, S. & Verheyen, G., jun 2022, In: Journal of Assisted Reproduction and Genetics. 39, 6, blz. 1225-1232 8 blz.Onderzoeksoutput: Article › peer review
1 Citaat (Scopus) -
Effect of A23187 ionophore treatment on human blastocyst development-a sibling oocyte study
Mateizel, I., Santos-Ribeiro, S., Segers, I., Wouters, K., Mackens, S. & Verheyen, G., jun 2022, In: Journal of Assisted Reproduction and Genetics. 39, 6, blz. 1235-1235 1235.Onderzoeksoutput: Article › peer review
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ESHRE survey results and good practice recommendations on managing chromosomal mosaicism
ESHRE Working Group on Chromosomal Mosaicism, De Rycke, M., Capalbo, A., Coonen, E., Coticchio, G., Fiorentino, F., Goossens, V., Mcheik, S., Rubio, C., Sermon, K., Sfontouris, I., Spits, C., Vermeesch, J. R., Vermeulen, N., Wells, D., Zambelli, F. & Kakourou, G., 2022, In: Human reproduction open. 2022, 4, 18 blz., hoac044.Onderzoeksoutput: Article › peer review
Open Access -
Evaluation of pregnancy outcomes using medroxyprogesterone acetate versus gonadotropin-releasing hormone antagonist in ovarian stimulation: A retrospective cohort study
Singh, E., Blockeel, C., Singh, M., Gupta, R. & Kamdi, S., jun 2022, In: International journal of reproductive biomedicine. 20, 6, blz. 491-500 10 blz.Onderzoeksoutput: Article › peer review
Open Access -
First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome
Strypstein, L., Van Moer, E., Nekkebroeck, J., Slegers, I., Tournaye, H., Demeestere, I., Dolmans, M-M., Verpoest, W. & De Vos, M., feb 2022, In: Journal of Assisted Reproduction and Genetics. 39, 2, blz. 543-549 7 blz.Onderzoeksoutput: Article › peer review
4 Citaten (Scopus) -
Genotype-phenotype correlations in malformations of cortical development (MCD): Integrating complementary approaches for a better understanding of MCD
Brock, S., 2022, 245 blz.Onderzoeksoutput: PhD Thesis
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Good Practices Initiative poster CPS11341: Re-using mendeliome data to explore pharmacogenomics implementation: pitfalls and opportunities
Coene, E., Olsen, C., Swaak, M., Vaeyens, F., Hes, F. J., Steurbaut, S., Van Dooren, S. & Cortoos, P-J., 2022.Onderzoeksoutput: Other
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Huit nouveaux cas de patientes présentant un variant pathogène de novo dans le gène ARX et revue de la littérature du phénotype des femmes hétérozygotes.
Keymolen, K. & Stouffs, K., 3 feb 2022, blz. 14. 1 blz.Onderzoeksoutput: Poster
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Impact of cell loss after warming of human vitrified day 3 embryos on obstetric outcome in single frozen embryo transfers
Di Guardo, F., Racca, A., Coticchio, G., Borini, A., Drakopoulos, P., Mackens, S., Tournaye, H., Verheyen, G., Blockeel, C. & Van Landuyt, L., sep 2022, In: Journal of Assisted Reproduction and Genetics. 39, 9, blz. 2069-2075 7 blz.Onderzoeksoutput: Article › peer review
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Impact of different endometrial preparation protocols before frozen embryo transfer on pregnancy outcomes: a review
Roelens, C. & Blockeel, C., nov 2022, In: Fertility and Sterility. 118, 5, blz. 820-827 8 blz.Onderzoeksoutput: Article › peer review
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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Maia, N. M. M., Potelle, S., Yildirim, H., Duvet, S., Akula, S. K., Schulz, C., Wiame, E., Gheldof, A., O'kane, K., Lai, A., Sermon, K., Proisy, M., Loget, P., Attié-Bitach, T., Quélin, C., Fortuna, A. M., Soares, A. R., de Brouwer, A. P. M., Van Schaftingen, E., Marie-Cécile, N. & 5 anderen, , 3 feb 2022, In: American Journal of Human Genetics. 109, 2, blz. 345-360 16 blz.Onderzoeksoutput: Article › peer review
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Improved automated early detection of breast cancer based on high resolution 3D micro-CT microcalcification images
Brahimetaj, R., Willekens, I., Massart, A., Forsyth, R., Cornelis, J. P. H., De Mey, J. & Jansen, B., 11 feb 2022, In: BMC Cancer. 22, 1, blz. 162 13 blz., 162.Onderzoeksoutput: Article › peer review
Open AccessBestand52 Downloads (Pure) -
Individual participant data meta-analysis of trials comparing frozen versus fresh embryo transfer strategy (INFORM): a protocol
INFORM Collaboration, 18 jul 2022, In: BMJ Open. 12, 7, 7 blz., e062578.Onderzoeksoutput: Article › peer review
Open Access -
Levothyroxine in euthyroid thyroid peroxidase antibody positive women with recurrent pregnancy loss (T4LIFE trial): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
van Dijk, M. M., Vissenberg, R., Fliers, E., van der Post, J. A. M., van der Hoorn, M-L. P., de Weerd, S., Kuchenbecker, W. K., Hoek, A., Sikkema, J. M., Verhoeve, H. R., Broeze, K. A., de Koning, C. H., Verpoest, W., Christiansen, O. B., Koks, C., de Bruin, J. P., Papatsonis, D. N. M., Torrance, H., van Wely, M., Bisschop, P. H. & 1 anderen, , mei 2022, In: Lancet Diabetes & Endocrinology. 10, 5, blz. 322-329 8 blz.Onderzoeksoutput: Article › peer review
4 Citaten (Scopus) -
Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders
Chen, X., Wilson, K. A., Schaefer, N., De Hayr, L., Windsor, M., Scalais, E., van Rijckevorsel, G., Stouffs, K., Villmann, C., O'Mara, M. L., Lynch, J. W. & Harvey, R. J., 29 apr 2022, In: Frontiers in molecular neuroscience. 15, 15 blz., 886729.Onderzoeksoutput: Article › peer review
4 Citaten (Scopus) -
Malformations of cerebral development and clues from the peripheral nervous system: A systematic literature review
Rijckmans, E., Stouffs, K., Jansen, A. C. & Brock, S., mrt 2022, In: European Journal of Paediatric Neurology. 37, blz. 155-164 10 blz.Onderzoeksoutput: Article › peer review
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Measuring Early Germ-Layer Specification Bias in Human Pluripotent Stem Cells
Keller, A., Krivec, N., Markouli, C. & Spits, C., 2022, In: Methods in Molecular Biology: Experimental Cholestasis Research . 2429, blz. 57-72 16 blz.Onderzoeksoutput: Article › peer review
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Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally
Mertens, J., Regin, M., De Munck, N., de Deckersberg, E. C., Belva, F., Sermon, K., Tournaye, H., Blockeel, C., Van de Velde, H. & Spits, C., 28 okt 2022, In: Human Molecular Genetics. 31, 21, blz. 3629-3642 14 blz.Onderzoeksoutput: Article › peer review
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More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
Dhooge, T., Van Damme, T., Syx, D., Mosquera, L. M., Nampoothiri, S., Radhakrishnan, A., Simsek-Kiper, P. O., Utine, G. E., Bonduelle, M., Migeotte, I., Essawi, O., Ceylaner, S., Al Kindy, A., Tinkle, B., Symoens, S. & Malfait, F., apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, blz. 156-157Onderzoeksoutput: Meeting abstract (Journal)
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Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing
Franck, S., Couvreu De Deckersberg, E., Bubenik, J. L., Markouli, C., Barbé, L., Allemeersch, J., Hilven, P., Duqué, G., Swanson, M. S., Gheldof, A., Spits, C. & Sermon, K. D., 15 jan 2022, In: Biology open. 11, 1, bio058978.Onderzoeksoutput: Article › peer review
Open AccessBestand2 Citaten (Scopus)7 Downloads (Pure) -
On the origins and fate of chromosomal abnormalities in human preimplantation embryos: an unsolved riddle
Regin, M., Spits, C. & Sermon, K., 11 apr 2022, In: Molecular Human Reproduction. 28, 4, 39 blz., gaac011.Onderzoeksoutput: Scientific review › peer review
Open Access -
Oocyte vitrification for elective fertility preservation: a SWOT analysis
Gil-Arribas, E., Blockeel, C., Pennings, G., Nekkebroeck, J., Velasco, J. A. G., Serna, J. & De Vos, M., jun 2022, In: Reproductive Biomedicine Online. 44, 6, blz. 1005-1014 10 blz.Onderzoeksoutput: Article › peer review
Open Access1 Citaat (Scopus) -
Paediatric lymphoedema: An audit of patients seen by the paediatric and primary lymphoedema group of vascular European Reference Network (VASCERN)
Devoogdt, N., Van Zanten, M., Damstra, R., Van Duinen, K., Dickinson-Blok, J. L., Thomis, S., Giacalone, G., Belva, F., Suominen, S., Kavola, H., Oberlin, M., Rossler, J., Rucigaj, T. P., Riches, K., Mansour, S., Gordon, K., Vignes, S. & Keeley, V., dec 2022, In: European Journal of Medical Genetics. 65, 12, 104641.Onderzoeksoutput: Article › peer review
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Poor ovarian response and the possible role of natural and modified natural cycles
Di Guardo, F., Blockeel, C., De Vos, M., Palumbo, M., Christoforidis, N., Tournaye, H. & Drakopoulos, P., 25 jan 2022, In: Therapeutic advances in reproductive health. 16, blz. 1-8 8 blz.Onderzoeksoutput: Article › peer review
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Küry, S., Zhang, J., Besnard, T., Caro-Llopis, A., Zeng, X., Robert, S. M., Josiah, S. S., Kiziltug, E., Denommé-Pichon, A-S., Cogné, B., Kundishora, A. J., Hao, L. T., Li, H., Stevenson, R. E., Louie, R. J., Deb, W., Torti, E., Vignard, V., McWalter, K., Raymond, F. L. & 60 anderen, , sep 2022, In: Genetics in Medicine : Official Journal of the American College of Medical Genetics. 24, 9, blz. 1941-1951 11 blz.Onderzoeksoutput: Article › peer review
2 Citaten (Scopus) -
SCN5A mutation in Brugada syndrome is associated with substrate severity detected by electrocardiographic imaging and high-density electroanatomic mapping
Pannone, L., Monaco, C., Sorgente, A., Vergara, P., Gauthey, A., Calburean, P-A., Bisignani, A., Paparella, G., Ramak, R., Overeinder, I., Bala, G., Almorad, A., Ströker, E., Pappaert, G., Sieira, J., Brugada, P., Van Dooren, S., de Ravel, T., La Meir, M., Chierchia, G. B. & 1 anderen, , jun 2022, In: Heart Rhythm. 19, 6, blz. 945-951 7 blz.Onderzoeksoutput: Article › peer review
1 Citaat (Scopus) -
Should we stop screening for chronic endometritis?
Darici, E., Blockeel, C. & Mackens, S., 16 jul 2022, In: Reproductive Biomedicine Online.Onderzoeksoutput: Article › peer review
Open Access -
The Impact of BRCA1- and BRCA2 Mutations on Ovarian Reserve Status
Drechsel, K. E., van Tilborg, T. C., Eijkemans, M., Lentjes, E., Homminga, I., Goddijn, M., van Golde, R., Verpoest, W., Lichtenbelt, K., Broekmans, F. & Anna, B., 15 jun 2022, In: Reproductive Sciences.Onderzoeksoutput: Article › peer review
Open Access -
Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis
Ng, K. Y., Richter, U., Jackson, C. B., Seneca, S. & Battersby, B. J., 22 apr 2022, In: Human Molecular Genetics. 31, 8, blz. 1230-1241 12 blz.Onderzoeksoutput: Article › peer review
Open Access -
Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders
Deans, Z. C., Biricik, A., De Rycke, M., Harton, G. L., Hornak, M., Khawaja, F., Moutou, C., Traeger-Synodinos, J. & Renwick, P., 12 nov 2022, In: Prenatal Diagnosis.Onderzoeksoutput: Article › peer review
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Undetectable viral RNA in follicular fluid, cumulus cells, and endometrial tissue samples in SARS-CoV-2-positive women
Boudry, L., Essahib, W., Mateizel, I., Van de Velde, H., De Geyter, D., Piérard, D., Waelput, W., Uvin, V., Tournaye, H., De Vos, M. & De Brucker, M., apr 2022, In: Fertility and Sterility. 117, 4, blz. 771-780 10 blz.Onderzoeksoutput: Article › peer review
Open Access4 Citaten (Scopus) -
2021
Androgens and Anti-Müllerian Hormone in Infertile Patients
Drakopoulos, P., Bardhi, E., Scherer, S., Blockeel, C., Verheyen, G., Anckaert, E., Tournaye, H. & Polyzos, N., okt 2021, In: Reproductive Sciences. 28, 10, blz. 2816-2821 6 blz.Onderzoeksoutput: Article › peer review
1 Citaat (Scopus) -
Aneuploidy induces proteotoxic stress and autophagy-mediated apoptosis in human preimplantation embryos
Regin, M., Couvreu De Deckersberg, E., Guns, Y., Verdyck, P., Verheyen, G., Van de Velde, H., Spits, C. & Sermon, K., 2021, In: Human Reproduction. 36, Suppl 1, blz. 114-115 2 blz.Onderzoeksoutput: Article › peer review