Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients
Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B.G., Hamel, B., Schalkwijk, J., Loeys, B., Maugeri, A., Voermans, N.C.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
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Journal Article
Intellectual and Motor Development of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening
Kempers, M. J. E, van der Sluijs Veer, L, Nijhuis-van der Sanden, M. W. G, Kooistra, L, Wiedijk, B. M, Faber, I, Last, B. F, de Vijlder, J. J. M, Grootenhuis, M. A, Vulsma, T
Published in The journal of clinical endocrinology and metabolism (01.02.2006)
Published in The journal of clinical endocrinology and metabolism (01.02.2006)
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Journal Article
Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls
Kempers, M. J. E, Lanting, C. I, van Heijst, A. F. J, van Trotsenburg, A. S. P, Wiedijk, B. M, de Vijlder, J. J. M, Vulsma, T
Published in The journal of clinical endocrinology and metabolism (01.09.2006)
Published in The journal of clinical endocrinology and metabolism (01.09.2006)
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Journal Article
Quality of Life, Developmental Milestones, and Self-Esteem of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening
van der Sluijs Veer, L, Kempers, M. J. E, Last, B. F, Vulsma, T, Grootenhuis, M. A
Published in The journal of clinical endocrinology and metabolism (01.07.2008)
Published in The journal of clinical endocrinology and metabolism (01.07.2008)
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Journal Article
Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit
van Duyvenvoorde, H A, Kempers, M J E, Twickler, Th B, van Doorn, J, Gerver, W J, Noordam, C, Losekoot, M, Karperien, M, Wit, J M, Hermus, A R M M
Published in European journal of endocrinology (01.08.2008)
Published in European journal of endocrinology (01.08.2008)
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Journal Article
Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome
Radonic, T, de Witte, P, Groenink, M, de Bruin-Bon, RACM, Timmermans, J, Scholte, AJH, van den Berg, MP, Baars, MJH, van Tintelen, JP, Kempers, M, Zwinderman, AH, Mulder, BJM
Published in Clinical genetics (01.10.2011)
Published in Clinical genetics (01.10.2011)
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Journal Article
Disturbance of the Fetal Thyroid Hormone State Has Long-Term Consequences for Treatment of Thyroidal and Central Congenital Hypothyroidism
Kempers, M. J. E, van Trotsenburg, A. S. P, van Tijn, D. A, Bakker, E, Wiedijk, B. M, Endert, E, de Vijlder, J. J. M, Vulsma, T
Published in The journal of clinical endocrinology and metabolism (01.07.2005)
Published in The journal of clinical endocrinology and metabolism (01.07.2005)
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Journal Article
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A
Published in European journal of medical genetics (01.09.2017)
Published in European journal of medical genetics (01.09.2017)
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Journal Article
Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation
Voermans, N.C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M.C., Bönnemann, C., van Engelen, B.G., Hamel, B.C.
Published in American journal of medical genetics. Part A (01.04.2012)
Published in American journal of medical genetics. Part A (01.04.2012)
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Journal Article
Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II
Kempers, M.J.E., van der Crabben, S.N., de Vroede, M., Alfen-van der Velden, J., Netea-Maier, R.T., Duim, R.A.J., Otten, B.J., Losekoot, M., Wit, J.M.
Published in Hormone research in paediatrics (01.01.2013)
Published in Hormone research in paediatrics (01.01.2013)
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Journal Article
Effects of naproxen and sulphasalazine or methotrexate on hypothalamic-pituitary-adrenal axis activity in patients with rheumatoid arthritis
EIJSBOUTS, A. M. M, KEMPERS, M. J. E, VAN DEN HOOGEN, F. H. J, LAAN, R. F. J. M, HERMUS, A. R. M. M, ROSS, H. A, SWEEP, F. C. G. J, VAN DE PUTTE, L. B. A
Published in Clinical and experimental rheumatology (2011)
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Published in Clinical and experimental rheumatology (2011)
Journal Article
The Effect of Life-long Thyroxine Treatment and Physical Activity on Bone Mineral Density in Young Adult Women with Congenital Hypothyroidism
Kempers, M.J.E., Vulsma, Τ., Wiedijk, Β.Μ., de Vijlder, J.J.Μ., van Eck-Smit, B.L.F., Verberne, H.J.
Published in Journal of Pediatric Endocrinology and Metabolism (01.12.2006)
Published in Journal of Pediatric Endocrinology and Metabolism (01.12.2006)
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Journal Article
Can GnRH Agonist Treatment Cause Slipped Capital Femoral Epiphysis?
Kempers, M.J.E., Noordam, C., Rouwé, C.W., Otten, B.J.
Published in Journal of Pediatric Endocrinology and Metabolism (01.06.2001)
Published in Journal of Pediatric Endocrinology and Metabolism (01.06.2001)
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Journal Article
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
van de Laar, Ingrid M B H, Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Benke, Kalman, Pepe, Guglielmina, Mulder, Barbara, Szabolcs, Zoltan, Teixidó-Turà, Gisela, Robert, Leema, Emmanuel, Yaso, Evangelista, Arturo, Pini, Alessandro, von Kodolitsch, Yskert, Jondeau, Guillaume, De Backer, Julie
Published in Orphanet journal of rare diseases (21.11.2019)
Published in Orphanet journal of rare diseases (21.11.2019)
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Journal Article
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN
Caruana, Maryanne, Baars, Marieke J., Bashiardes, Evy, Benke, Kalman, Björck, Erik, Codreanu, Andrei, de Moya Rubio, Elena, Dumfarth, Julia, Evangelista, Arturo, Groenink, Maarten, Kallenbach, Klaus, Kempers, Marlies, Keravnou, Anna, Loeys, Bart, Muiño-Mosquera, Laura, Nagy, Edit, Milleron, Olivier, Nistri, Stefano, Pepe, Guglielmina, Roos-Hesselink, Jolien, Szabolcs, Zoltan, Teixidó-Tura, Gisela, Timmermans, Janneke, Van de Laar, Ingrid, van Kimmenade, Roland, Verstraeten, Aline, Von Kodolitsch, Yskert, De Backer, Julie, Jondeau, Guillaume
Published in European journal of medical genetics (01.01.2023)
Published in European journal of medical genetics (01.01.2023)
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Journal Article
Karyotype - Phenotype Associations in Patients with Turner Syndrome
Noordman, Iris D, van der Velden, Janiëlle Aem, Timmers, Henri Jlm, Pienkowski, Catherine, Köhler, Birgit, Kempers, Marlies, Reisch, Nicole, Richter-Unruh, Annette, Arlt, Wiebke, Nordenström, Anna, Webb, Emma A, Roeleveld, Nel, Claahsen-van der Grinten, Hedi L
Published in Pediatric endocrinology reviews : PER (01.04.2019)
Published in Pediatric endocrinology reviews : PER (01.04.2019)
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Journal Article
Candidate gene resequencing in a large BAV/TAA cohort: SMAD6 as an important contributor
Loeys, BL, Gillis, E, Preuss, C, Kumar, A, Luyckx, I, Cannaerts, E, van de Beek, G, Wieschendorf, B, Alaerts, M, Bolar, N, Vandeweyer, G, Wunnemann, F, Gould, RA, Zhurayev, R, Mohamed, SA, Mital, S, Mertens, L, Eriksson, P, Mc Callion, A, Van Laer, L, Verhagen, MA, Vandelaar, I, Wessels, MW, Messas, E, Paderova, J, Krebsova, A, Kempers, M, Salemink, S, Duijnhouwer, T, Jeunemaitre, X, Albuisson, J, Andelfinger, G, Dietz, H, Verstraeten, A
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
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Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Conference Proceeding
Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome
Hasami, Nesar A, Ko, Kinsing, Kempers, Marlies J E, van Kimmenade, Roland R J, Geuzebroek, Guillaume S C
Published in JACC. Case reports (03.01.2024)
Published in JACC. Case reports (03.01.2024)
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Journal Article