Browsing by Author "Kempers, M.J.E."

Now showing items 1-46 of 46

Germline and somatic mosaicism in a family with multiple endocrine neoplasia type 1 (MEN1) syndrome
Beijers, H.; Stikkelbroeck, N.; Mensenkamp, A.R. ; Pfundt, R.P. ; Luijt, R.B. van der; Timmers, H.J.L.M. ; Hermus, A.R.M.M. ; Kempers, M.J.E.
2019, Article / Letter to editor (European Journal of Endocrinology, vol. 180, iss. 2, (2019), pp. K15-k19)
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
Hiatt, Susan M.; Thompson, Michelle L.; Prokop, Jeremy W.; Lawlor, James M.J.; Gray, David E.; Bebin, E.Martina; Rinne, T.K. ; Kempers, M.J.E. ; Pfundt, R.P. ; Bon, B.W. van ; McWalter, Kirsty; Cooper, Gregory M. et al. sine al.
2019, Article / Letter to editor (American Journal of Human Genetics, vol. 104, iss. 4, (2019), pp. 701-708)
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
Luyckx, I.; Kumar, A.A.; Reyniers, Edwin; Dekeyser, Emily; Vanderstraeten, Kathleen; Vandeweyer, G.; Kempers, M.J.E. ; Duijnhouwer, A.L.; Loeys, B.L.; Nemcikova, M.; Krebsova, A. et al. sine al.
2019, Article / Letter to editor (European Journal of Human Genetics, vol. 27, iss. 7, (2019), pp. 1033-1043)
Aortic dilatation and outcome in women with Turner syndrome
Duijnhouwer, A.L.; Bons, Lidia R.; Timmers, H.J.L.M. ; Kimmenade, R.R. van; Snoeren, M.M. ; Timmermans, J. ; Kempers, M.J.E. ; Dijk, A.P.J. van ; Fleischer, K.; Roos-Hesselink, J.W.
2019, Article / Letter to editor (Heart, vol. 105, iss. 9, (2019), pp. 693-700)
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype
Cannaerts, E.; Kempers, M.J.E. ; Maugeri, A.; Marcelis, C.L. ; Gardeitchik, T. ; Richer, J.; Micha, D.; Beauchesne, L.; Timmermans, J. ; Vermeersch, P.; Meyten, N.; Chenier, S.; Beek, G. van de; Peeters, N.; Alaerts, M.; Schepers, D.; Laer, L. Van; Verstraeten, A.; Loeys, B.L. et al. sine al.
2019, Article / Letter to editor (Journal of Medical Genetics, vol. 56, iss. 4, (2019), pp. 220-227)
Karyotype - Phenotype Associations in Patients with Turner Syndrome
Noordman, I.D. ; Velden, J.A.; Timmers, H.J. ; Pienkowski, C.; Kohler, B.; Kempers, M.J.E. ; Reisch, N.; Richter-Unruh, A.; Arlt, W.; Nordenstrom, A.; Webb, E.A.; Roeleveld, N. ; Claahsen-van der Grinten, H.L. et al. sine al.
2019, Article / Letter to editor (Pediatric Endocrinology Reviews, vol. 16, iss. 4, (2019), pp. 431-440)
Sex Assignment and Diagnostics in Infants with Ambiguous Genitalia-A Single-Center Retrospective Study
Zoest, M.J. van; Bijker, E.M.; Kortmann, B.B.M. ; Kempers, M.J.E. ; Herwaarden, A.E. van ; Velden, J. van der ; Claahsen-van der Grinten, H.L.
2019, Article / Letter to editor (Sexual Development, vol. 13, iss. 3, (2019), pp. 109-117)
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum
Konrad, E.D.H.; Nardini, N.; Caliebe, A.; Nagel, I.; Young, D.; Horvath, G.; Santoro, S.L.; Shuss, C.; Ziegler, A.; Bonneau, D.; Kempers, M.J.E. ; Pfundt, R.P. ; Legius, E.; Bouman, A.; Stuurman, K.E.; Ounap, K.; Pajusalu, S.; Wojcik, M.H.; Vasileiou, G.; Guyader, G. Le; Schnelle, H.M.; Berland, S.; Zonneveld-Huijssoon, E.; Kersten, S. ; Gupta, A.; Blackburn, P.R.; Ellingson, M.S.; Ferber, M.J.; Dhamija, R.; Klee, E.W.; McEntagart, M.; Lichtenbelt, K.D.; Kenney, A.; Vergano, Samantha A.; Jamra, R. Abou; Platzer, K.; Pierpont, M. Ella; Khattar, D.; Hopkin, R.J.; Martin, R.J.; Jongmans, M.C.J. ; Chang, V.Y.; Martinez-Agosto, J.A.; Kuismin, O.; Kurki, M.I.; Pietilainen, O.; Palotie, A.; Maarup, T.J.; Johnson, D.S.; Pedersen, K.; Laulund, L.W.; Lynch, S.A.; Blyth, M.; Prescott, K.; Canham, N.; Ibitoye, R.; Brilstra, E.H.; Shinawi, M.; Fassi, E.; Sticht, H.; Gregor, A.; Esch, H. Van; Zweier, C. et al. sine al.
2019, Article / Letter to editor (Genetics in Medicine, vol. 21, iss. 12, (2019), pp. 2723-2733)
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy
Luyckx, I.; MacCarrick, G.; Kempers, M.J.E. ; Meester, J. de; Geryl, C.; Rombouts, O.; Peeters, N.; Claes, C.; Boeckx, N.; Sakalihasan, N.; Jacquinet, A.; Hoischen, A. ; Vandeweyer, G.; Lent, S. Van; Saenen, J.; Craenenbroeck, E. Van; Timmermans, J. ; Duijnhouwer, A.L.; Dietz, H.; Laer, L. Van; Loeys, B.L.; Verstraeten, A. et al. sine al.
2019, Article / Letter to editor (European Journal of Human Genetics, vol. 27, iss. 7, (2019), pp. 1044-1053)
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants
Laar, I. van de; Arbustini, E.; Loeys, B.L.; Bjorck, E.; Murphy, L.; Groenink, M.; Kempers, M.J.E. ; Timmermans, J. ; Roos-Hesselink, J.; Benke, K.; Pepe, G.; Mulder, B.; Szabolcs, Z.; Teixido-Tura, G.; Robert, L.; Emmanuel, Y.; Evangelista, A.; Pini, A.; Kodolitsch, Y. von; Jondeau, G.; Backer, J. De et al. sine al.
2019, Article / Letter to editor (Orphanet Journal of Rare Diseases, vol. 14, iss. 1, (2019), pp. 264)
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives
Verhagen, J.M.A.; Kempers, M.J.E. ; Cozijnsen, Luc; Bouma, Berto J.; Duijnhouwer, A.L.; Post, Jan G.; Loeys, B.L.; Roos-Hesselink, Jolien W.; Laar, I. van de
2018, Article / Letter to editor (International Journal of Cardiology, vol. 258, (2018), pp. 243-248)
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders
Overwater, E.; Marsili, Luisa; Baars, M.J.; Baas, Annette F.; Beek, Irma van de; Dulfer, E.; Kempers, M.J.E. ; Houweling, A.C.; Maugeri, A.
2018, Article / Letter to editor (Human Mutation, vol. 39, iss. 9, (2018), pp. 1173-1192)
NBEA: Developmental disease gene with early generalized epilepsy phenotypes
Mulhern, Maureen S.; Stumpel, C.; Stong, N.; Brunner, H.G. ; Bier, Louise; Lippa, Natalie; Kempers, M.J.E. ; Pfundt, R.P. ; Snijders Blok, L.; Stevens, S.J.C.; Sands, Tristan T. et al. sine al.
2018, Article / Letter to editor (Annals of Neurology, vol. 84, iss. 5, (2018), pp. 788-795)
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
Schepers, D.; Tortora, Giada; Morisaki, Hiroko; MacCarrick, Gretchen; Lindsay, M.E.; Liang, David; Kempers, M.J.E. ; Laer, L. Van; Loeys, B.L.
2018, Article / Letter to editor (Human Mutation, vol. 39, iss. 5, (2018), pp. 621-634)
Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations
Noordman, I.D. ; Duijnhouwer, A.L.; Kapusta, L. ; Kempers, M.J.E. ; Roeleveld, N. ; Schokking, M. ; Smeets, D.F. ; Timmers, H.J. ; Alfen-van der Velden, J. van
2018, Article / Letter to editor (European Journal of Medical Genetics, vol. 61, iss. 6, (2018), pp. 301-306)
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
Overwater, E.; Floor, K.; Beek, D. van; Boer, K. de; Dijk, T. van; Hilhorst-Hofstee, Y.; Kempers, M.J.E. ; Loeys, B.L.; Salemink, S.; Houweling, A.C.; Maugeri, A. et al. sine al.
2017, Article / Letter to editor (European Journal of Medical Genetics, vol. 60, iss. 9, (2017), pp. 465-473)
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.J.E. ; Beek, D. van de; Micha, D.; Engelen, B.G.M. van ; Hamel, B.C.J. ; Schalkwijk, J. ; Loeys, B.L.; Maugeri, A.; Voermans, N.C. et al. sine al.
2017, Article / Letter to editor (Clinical Genetics, vol. 91, iss. 3, (2017), pp. 411-425)
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
Willems, A.P.; Gundogdu, M.; Kempers, M.J.E. ; Giltay, J.C.; Pfundt, R.P. ; Elferink, M.; Loza, B.F.; Fuijkschot, J.; Ferenbach, A.T.; Gassen, K.L. van; Aalten, D.M.F. van; Lefeber, D.J. et al. sine al.
2017, Article / Letter to editor (Journal of Biological Chemistry, vol. 292, iss. 30, (2017), pp. 12621-12631)
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
Gillis, E.; Kumar, A.A.; Luyckx, I.; Preuss, C.; Cannaerts, E.; Beek, G. van de; Wieschendorf, B.; Alaerts, M.; Bolar, N.; Vandeweyer, G.; Meester, J. de; Wunnemann, F.; Gould, R.A.; Zhurayev, R.; Zerbino, D.; Mohamed, S.A.; Mital, S.; Mertens, L.; Bjorck, H.M.; Franco-Cereceda, A.; McCallion, A.S.; Laer, L. Van; Verhagen, J.M.A.; Laar, I. van de; Wessels, M.W.; Messas, E.; Goudot, G.; Nemcikova, M.; Krebsova, A.; Kempers, M.J.E. ; Salemink, S.; Duijnhouwer, T.; Jeunemaitre, X.; Albuisson, J.; Eriksson, P.; Andelfinger, G.; Dietz, H.C.; Verstraeten, A.; Loeys, B.L. et al. sine al.
2017, Article / Letter to editor (Frontiers in Physiology, vol. 8, (2017), article 400)
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
Skraban, C.M.; Wells, C.F.; Markose, P.; Cho, M.T.; Nesbitt, A.I.; Au, P.Y.; Begtrup, A.; Bernat, J.A.; Bird, L.M.; Cao, K.; Brouwer, A.P.M. de ; Denenberg, E.H.; Douglas, G.; Gibson, K.M.; Grand, K.; Goldenberg, A.; Innes, A.M.; Juusola, J.; Kempers, M.J.E. ; Kinning, E.; Markie, D.M.; Owens, M.M.; Payne, K.; Person, R.; Pfundt, R.P. ; Stocco, A.; Turner, C.L.; Verbeek, N.E.; Walsh, L.E.; Warner, T.C.; Wheeler, P.G.; Wieczorek, D.; Wilkens, A.B.; Zonneveld-Huijssoon, E.; Kleefstra, T. ; Robertson, S.P.; Santani, A.; Gassen, K.L. van; Deardorff, M.A. et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 101, iss. 1, (2017), pp. 139-148)
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Verloes, A.; Donato, N. Di; Masliah-Planchon, J.; Jongmans, M.C.J. ; Abdul-Raman, O.A.; Albrecht, B.; Allanson, J.; Brunner, H.G. ; Bertola, D.; Chassaing, N.; David, A.; Devriendt, K.; Eftekhari, P.; Drouin-Garraud, V.; Faravelli, F.; Faivre, L.; Giuliano, F.; Almeida, L.; Juncos, J.; Kempers, M.J.E. ; Eker, H.K.; Lacombe, D.; Lin, A.; Mancini, G.; Melis, D.; Lourenco, C.M.; Siu, V.M.; Morin, G.; Nezarati, M.; Nowaczyk, M.J.; Ramer, J.C.; Osimani, S.; Philip, N.; Pierpont, M.E.; Procaccio, V.; Roseli, Z.S.; Rossi, M.; Rusu, C.; Sznajer, Y.; Templin, L.; Uliana, V.; Klaus, M.; Bon, B.W. van ; Ravenswaaij, C.M.A. van ; Wainer, B.; Fry, A.E.; Rump, A.; Hoischen, A. ; Drunat, S.; Riviere, J.B.; Dobyns, W.B.; Pilz, D.T. et al. sine al.
2015, Article / Letter to editor (European Journal of Human Genetics, vol. 23, iss. 3, (2015), pp. 292-301)
[Neonatal screening for congenital hypothyroidism: more than 30 years of experience in the Netherlands].
Verkerk, P.H.; Trotsenburg, A.S. van; Hoorweg-Nijman, J.J.G.; Oostdijk, W.; Tijn, D.A. van; Kempers, M.J.E. ; Akker, E.L. van den; Loeber, J.G.; Elvers, L.H.; Vulsma, T.
2014, Article / Letter to editor (Nederlands Tijdschrift voor Geneeskunde, vol. 158, (2014), pp. A6564)
A dominant-negative GFI1B mutation in the gray platelet syndrome
Monteferrario, D. ; Bolar, N.A.; Marneth, A.E.; Hebeda, K.M. ; Bergevoet, S.M. ; Veenstra, H.; Laros-van Gorkom, B.A.P. ; MacKenzie, M.A. ; Khandanpour, C.; Botezatu, L.; Fransen, E.; Camp, G. van; Duijnhouwer, A.L.; Salemink, S.; Willemsen, B.; Huls, G.A.; Preijers, F.W. ; Heerde, W.L. van ; Jansen, J.H. ; Kempers, M.J.E. ; Loeys, B.L.; Laer, L. van; Reijden, B.A. van der et al. sine al.
2014, Article / Letter to editor (The New England Journal of Medicine, vol. 370, iss. 3, (2014), pp. 245-253)
Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features
Tucci, V.; Kleefstra, T. ; Hardy, A.; Heise, I.; Maggi, S.; Willemsen, M.H. ; Hilton, H.; Esapa, C.; Simon, M.; Buenavista, M.T.; McGuffin, L.J.; Vizor, L.; Dodero, L.; Tsaftaris, S.; Romero, R.; Nillesen, W.N.; Vissers, L.E.L.M. ; Kempers, M.J.E. ; Silfhout, A.T. van ; Iqbal, Z. ; Orlando, M.; Maccione, A.; Lassi, G.; Farisello, P.; Contestabile, A.; Tinarelli, F.; Nieus, T.; Raimondi, A.; Greco, B.; Cantatore, D.; Gasparini, L.; Berdondini, L.; Bifone, A.; Gozzi, A.; Wells, S.; Nolan, P.M. et al. sine al.
2014, Article / Letter to editor (Journal of Clinical Investigation, vol. 124, iss. 4, (2014), pp. 1468-1482)
Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II
Kempers, M.J.E. ; Crabben, S.N. van der; Vroede, M. de; Velden, J. Van der; Netea-Maier, R.T. ; Duim, R.A.; Otten, B.J. ; Losekoot, M.; Wit, J.M.
2013, Article / Letter to editor (Hormone Research in Paediatrics, vol. 80, iss. 6, (2013), pp. 390-396)
Twenty patients including 7 probands with autosomal dominant cutis laxi confirm clinical and molecular homogeneity
Hadj-Rabia, S.; Callewaert, B.L.; Bourrat, E.; Kempers, M.J.E. ; Plomp, A.S.; Layet, V.; Bartholdi, D.; Renard, M.; Backer, J.D.; Malfait, F.; Vanakker, O.M.; Couke, P.J.; Paepe, A.M. De; Bodemer, C. et al. sine al.
2013, Article / Letter to editor (Orphanet Journal of Rare Diseases, vol. 8, iss. 1, (2013), pp. 36)
Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening
van der Sluijs Veer, L.; Kempers, M.J.E. ; Maurice-Stam, H.; Last, B.F.; Vulsma, T.; Grootenhuis, M.A.
2012, Article / Letter to editor (Child and Adolescent Psychiatry and Mental Health, vol. 6, iss. 1, (2012), pp. 32)
Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening
van der Sluijs Veer, L.; Kempers, M.J.E. ; Wiedijk, B.M.; Last, B.F.; Grootenhuis, M.A.; Vulsma, T.
2012, Article / Letter to editor (Journal of Developmental and Behavioral Pediatrics, vol. 33, iss. 8, (2012), pp. 633-640)
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
Sun, Y; Bak, B.; Schoenmakers, N.; van Trotsenburg, A.S.; Oostdijk, W.; Voshol, P.; Cambridge, E.; White, J.K.; le Tissier, P.; Gharavy, S.N.; Martinez-Barbera, J.P.; Stokvis-Brantsma, W.H.; Vulsma, T.; Kempers, M.J.E. ; Persani, L.; Campi, I.; Bonomi, M.; Beck-Peccoz, P.; Zhu, H.; Davis, T.M.; Hokken-Koelega, A.C.S.; Del Blanco, D.G.; Rangasami, J.J.; Ruivenkamp, C.A.; Laros, J.F.; Kriek, M.; Kant, S.G.; Bosch, C.A.; Biermasz, N.R.; Appelman-Dijkstra, N.M.; Corssmit, E.P.; Hovens, G.C.; Pereira, A.M.; Dunnen, J.T. den; Wade, M.G.; Breuning, M.H.; Hennekam, R.C.; Chatterjee, K.; Dattani, M.T.; Wit, J.M.; Bernard, D.J. et al. sine al.
2012, Article / Letter to editor (Nature Genetics, vol. 44, iss. 12, (2012), pp. 1375-1381)
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency
Krone, N.; Reisch, N.; Idkowiak, J.; Dhir, V.; Ivison, H.E.; Hughes, B.A.; Rose, I.T.; O'Neil, D.M.; Vijzelaar, R.; Smith, M.J.; Macdonald, F.; Cole, T.R.; Adolphs, N.; Barton, J.S.; Blair, E.M.; Braddock, S.R.; Collins, F.; Cragun, D.L.; Dattani, M.T.; Day, R.; Dougan, S.; Feist, M.; Gottschalk, M.E.; Gregory, J.W.; Haim, M.; Harrison, R.; Olney, A.H.; Hauffa, B.P.; Hindmarsh, P.C.; Hopkin, R.J.; Jira, P.E.; Kempers, M.J.E. ; Kerstens, M.N.; Khalifa, M.M.; Kohler, B.; Maiter, D.; Nielsen, S.; O'Riordan, S.M.; Roth, C.L.; Shane, K.P.; Silink, M.; Stikkelbroeck, N.; Sweeney, E.; Szarras-Czapnik, M.; Waterson, J.R.; Williamson, L.; Hartmann, M.F.; Taylor, N.F.; Wudy, S.A.; Malunowicz, E.M.; Shackleton, C.H.; Arlt, W. et al. sine al.
2012, Article / Letter to editor (Journal of Clinical Endocrinology and Metabolism, vol. 97, iss. 2, (2012), pp. E257-67)
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Lindsay, M.E.; Schepers, D.; Bolar, N.A.; Doyle, J.J.; Gallo, E.; Fert-Bober, J.; Kempers, M.J.E. ; Fishman, E.K.; Chen, Y.; Myers, L.; Bjeda, D.; Oswald, G.; Elias, A.F.; Levy, H.P.; Anderlid, B.M.; Yang, M.H.; Bongers, M.H.F. ; Timmermans, J. ; Braverman, A.C.; Canham, N.; Mortier, G.R.; Brunner, H.G. ; Byers, P.H.; Eyk, J. Van; Laer, L. van; Dietz, H.C.; Loeys, B.L. et al. sine al.
2012, Article / Letter to editor (Nature Genetics, vol. 44, iss. 8, (2012), pp. 922-927)
Inflammation aggravates disease severity in Marfan syndrome patients.
Radonic, T.; Witte, P. de; Groenink, M.; Waard, V. de; Lutter, R.; Eijk, M. van; Jansen, J.L.M.; Timmermans, J. ; Kempers, M.J.E. ; Scholte, A.J.H.A.; Hilhorst-Hofstee, Y.; Berg, M.P van den; Tintelen, J.P. van; Pals, G. ; Baars, M.J.; Mulder, B.J.; Zwinderman, A.H. et al. sine al.
2012, Article / Letter to editor (PLoS One, vol. 7, iss. 3, (2012), article e32963)
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Kempers, M.J.E. ; Kuiper, R.P. ; Ockeloen, C.W.; Chappuis, P.O.; Hutter, P.; Rahner, N.; Schackert, H.K.; Steinke, V.; Holinski-Feder, E.; Morak, M.; Kloor, M.; Buttner, R.; Verwiel, E.T.P. ; Krieken, J.H. van ; Nagtegaal, I.D. ; Goossens, M.; Post, R.S. van der; Niessen, R.C.; Sijmons, R.H.; Kluijt, I.; Hogervorst, F.B.L.; Leter, E.M.; Gille, J.J.P.; Aalfs, C.M.; Redeker, E.J.; Hes, F.J.; Tops, C.M.; Nesselrooij, B.P. van; Gijn, M.E. van; Gomez Garcia, E.B.; Eccles, D.M.; Bunyan, D.J.; Syngal, S.; Stoffel, E.M.; Culver, J.O.; Palomares, M.R.; Graham, T.; Velsher, L.; Papp, J.; Olah, E.; Chan, T.L.; Leung, S.Y.; Geurts van Kessel, A.H.M. ; Kiemeney, L.A.L.M. ; Hoogerbrugge, N. ; Ligtenberg, M.J.L. et al. sine al.
2011, Article / Letter to editor (Lancet Oncology, vol. 12, iss. 1, (2011), pp. 49-55)
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. ; Hoogen, F.H.J. van den ; Laan, R.F.J.M. ; Hermus, A.R.M.M. ; Ross, H.A. ; Sweep, C.G.J. ; Putte, L.B.A. van de
2011, Article / Letter to editor (Clinical and Experimental Rheumatology, vol. 29, iss. 1, (2011), pp. 35-42)
Systematic review: diagnostic procedures to differentiate unilateral from bilateral adrenal abnormality in primary aldosteronism.
Kempers, M.J.E. ; Lenders, J.W.M. ; Outheusden, L. van ; Wilt, G.J. van der ; Schultze Kool, L.J. ; Hermus, A.R.M.M. ; Deinum, J.
2009, Article / Letter to editor (Annals of Internal Medicine C.2, vol. 151, iss. 5, (2009), pp. 329-337)
Effect of naproxen on the hypothalamic-pituitary-adrenal axis in healthy volunteers.
Eijsbouts, A.M.M.; Kempers, M.J.E. ; Kramer, R.S.; Hopman, M.T.E. ; Hoogen, F.H.J. van den ; Laan, R.F.J.M. ; Hermus, A.R.M.M. ; Sweep, C.G.J. ; Putte, L.B.A. van de
2009, Article / Letter to editor (British Journal of Clinical Pharmacology, vol. 67, iss. 1, (2009), pp. 22-28)
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domene, H.M.; Hwa, V.; Argente, J.; Wit, J.M.; Camacho-Hubner, C.; Jasper, H.G.; Pozo, J.; Duyvenvoorde, H.A. van; Yakar, S.; Fofanova-Gambetti, O.V.; Rosenfeld, R.G.; Hermus, A.R.M.M. ; Twickler, T.B. ; Kempers, M.J.E. et al. sine al.
2009, Article / Letter to editor (Hormone Research, vol. 72, iss. 3, (2009), pp. 129-141)
Morphological abnormalities in children with thyroidal congenital hypothyroidism.
Kempers, M.J.E. ; Ozgen, H.M.; Vulsma, T.; Merks, J.H.; Zwinderman, K.H.; Vijlder, J.J. de; Hennekam, R.C.M.
2009, Article / Letter to editor (American Journal of Medical Genetics. Part A, vol. 149A, iss. 5, (2009), pp. 943-951)
Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.
Duyvenvoorde, H.A. van; Kempers, M.J.E. ; Twickler, T.B. ; Doorn, J. van; Gerver, W.J.; Noordam, C. ; Losekoot, M.; Karperien, M.; Wit, J.M.; Hermus, A.R.M.M.
2008, Article / Letter to editor (European Journal of Endocrinology, vol. 159, iss. 2, (2008), pp. 113-120)
Quality of life, developmental milestones, and self-esteem of young adults with congenital hypothyroidism diagnosed by neonatal screening.
Sluijs-Veer, L. van der; Kempers, M.J.E. ; Last, B.F.; Vulsma, T.; Grootenhuis, M.A.
2008, Article / Letter to editor (Journal of Clinical Endocrinology and Metabolism, vol. 93, iss. 7, (2008), pp. 2654-2661)
Loss of integrity of thyroid morphology and function in children born to mothers with inadequately treated Graves' disease.
Kempers, M.J.E. ; Trotsenburg, A.S. van; Rijn, R.R. van; Smets, A.M.; Smit, B.J.; Vijlder, J.J. de; Vulsma, T.
2007, Article / Letter to editor (Journal of Clinical Endocrinology and Metabolism, vol. 92, iss. 8, (2007), pp. 2984-2991)
Neonatal screening for congenital hypothyroidism in the Netherlands: cognitive and motor outcome at 10 years of age.
Kempers, M.J.E. ; Sluijs-Veer, L. van der; Nijhuis-van der Sanden, M.W.G. ; Lanting, C.I.; Kooistra, L. ; Wiedijk, B.M.; Last, B.F.; Vijlder, J.J. de; Grootenhuis, M.A.; Vulsma, T.
2007, Article / Letter to editor (Journal of Clinical Endocrinology and Metabolism, vol. 92, iss. 3, (2007), pp. 919-924)
[Central congenital hypothyroidism due to Graves' disease in the mother]
Liebrand, C.A.; Mol, A.C. de ; Kempers, M.J.E. ; Noordam, C.
2006, Article / Letter to editor (Nederlands Tijdschrift voor Geneeskunde, vol. 150, iss. 41, (2006), pp. 2229-2232)
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls.
Kempers, M.J.E. ; Lanting, C.I.; Heyst, A.F.J. van ; Trotsenburg, A.S. van; Wiedijk, B.M.; Vijlder, J.J. de; Vulsma, T.
2006, Article / Letter to editor (Journal of Clinical Endocrinology and Metabolism, vol. 91, iss. 9, (2006), pp. 3370-3376)
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.R. ; Last, B.F.; Vijlder, J.J. de; Grootenhuis, M.A.; Vulsma, T.
2006, Article / Letter to editor (Journal of Clinical Endocrinology and Metabolism, vol. 91, iss. 2, (2006), pp. 418-424)
Can GnRG-agonist treatment cause slipped capital femoral epiphysis?
Kempers, M.J.E. ; Noordam, C. ; Rouwé, C.W.; Otten, B.J.
2001, Article / Letter to editor (Journal of Pediatric Endocrinology & Metabolism, vol. 14, (2001), pp. 729-739)

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