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Your search keyword '"Cremer, K."' showing total 10 results
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10 results on '"Cremer, K."'

2. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Author

Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM, Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, and Wilkie, AOM

Abstract

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2.

Published
2018

4. Short-term health effects in the general population following a major train accident with acrylonitrile in Belgium

Author

Simons, K., primary, De Smedt, T., additional, Stove, C., additional, De Paepe, P., additional, Bader, M., additional, Nemery, B., additional, Vleminckx, C., additional, De Cremer, K., additional, Van Overmeire, I., additional, Fierens, S., additional, Mertens, B., additional, Göen, T., additional, Schettgen, T., additional, Van Oyen, H., additional, Van Loco, J., additional, and Van Nieuwenhuyse, A., additional

Published
2016
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5. Development and validation of an ultra-high performance liquid chromatography–tandem mass spectrometry method to measure creatinine in human urine

Author

Fraselle, S., primary, De Cremer, K., additional, Coucke, W., additional, Glorieux, G., additional, Vanmassenhove, J., additional, Schepers, E., additional, Neirynck, N., additional, Van Overmeire, I., additional, Van Loco, J., additional, Van Biesen, W., additional, and Vanholder, R., additional

Published
2015
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6. Acrylonitrile exposure in the general population following a major train accident in Belgium: A human biomonitoring study

Author

De Smedt, T., primary, De Cremer, K., additional, Vleminckx, C., additional, Fierens, S., additional, Mertens, B., additional, Van Overmeire, I., additional, Bader, M., additional, De Paepe, P., additional, Göen, T., additional, Nemery, B., additional, Schettgen, T., additional, Stove, C., additional, Van Oyen, H., additional, Van Loco, J., additional, and Van Nieuwenhuyse, A., additional

Published
2014
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7. Acrylonitrile exposure assessment in the emergency responders of a major train accident in Belgium: A human biomonitoring study

Author

Van Nieuwenhuyse, A., primary, Fierens, S., additional, De Smedt, T., additional, De Cremer, K., additional, Vleminckx, C., additional, Mertens, B., additional, Van Overmeire, I., additional, Bader, M., additional, De Paepe, P., additional, Göen, T., additional, Nemery, B., additional, Schettgen, T., additional, Stove, C., additional, Van Oyen, H., additional, and Van Loco, J., additional

Published
2014
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