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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Stokman MF, van der Zwaag B, van de Kar NCAJ, van Haelst MM, van Eerde AM, van der Heijden JW, Kroes HY, Ippel E, Schulp AJA, van Gassen KL, van Rooij IALM, Giles RH, Beales PL, Roepman R, Arts HH, Bongers EMHF, Renkema KY, Knoers NVAM, van Reeuwijk J, Lilien MR. Stokman MF, et al. Among authors: van de kar ncaj, van rooij ialm, van der heijden jw, van haelst mm, van reeuwijk j, van der zwaag b, van eerde am, van gassen kl. Pediatr Nephrol. 2018 Oct;33(10):1701-1712. doi: 10.1007/s00467-018-3958-7. Epub 2018 Jul 5. Pediatr Nephrol. 2018. PMID: 29974258 Free PMC article.
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
Non-invasive sources of cells with primary cilia from pediatric and adult patients.
Ajzenberg H, Slaats GG, Stokman MF, Arts HH, Logister I, Kroes HY, Renkema KY, van Haelst MM, Terhal PA, van Rooij IA, Keijzer-Veen MG, Knoers NV, Lilien MR, Jewett MA, Giles RH. Ajzenberg H, et al. Among authors: van rooij ia, van haelst mm. Cilia. 2015 Jun 1;4:8. doi: 10.1186/s13630-015-0017-x. eCollection 2015. Cilia. 2015. PMID: 26034581 Free PMC article.
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Monroe GR, Frederix GW, Savelberg SM, de Vries TI, Duran KJ, van der Smagt JJ, Terhal PA, van Hasselt PM, Kroes HY, Verhoeven-Duif NM, Nijman IJ, Carbo EC, van Gassen KL, Knoers NV, Hövels AM, van Haelst MM, Visser G, van Haaften G. Monroe GR, et al. Among authors: van hasselt pm, van haelst mm, van haaften g, van der smagt jj, van gassen kl. Genet Med. 2016 Sep;18(9):949-56. doi: 10.1038/gim.2015.200. Epub 2016 Feb 4. Genet Med. 2016. PMID: 26845106 Free article.
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Stokman MF, Oud MM, van Binsbergen E, Slaats GG, Nicolaou N, Renkema KY, Nijman IJ, Roepman R, Giles RH, Arts HH, Knoers NV, van Haelst MM. Stokman MF, et al. Among authors: van haelst mm, van binsbergen e. Am J Med Genet A. 2016 Jun;170(6):1566-9. doi: 10.1002/ajmg.a.37598. Epub 2016 Feb 19. Am J Med Genet A. 2016. PMID: 26892345
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova DJ, Monroe GR, Tessadori F, de Graaff E, van der Zwaag B, Mehta SG; DDD Study; Harakalova M, Duran KJ, Savelberg SM, Nijman IJ, Jungbluth H, Hoogenraad CC, Bakkers J, Knoers NV, Firth HV, Beales PL, van Haaften G, van Haelst MM. Josifova DJ, et al. Among authors: van haelst mm, van der zwaag b, van haaften g. Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. doi: 10.1093/hmg/ddw082. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27005418
[Genetic obesity: new diagnostic options].
de Vries TI, Alsters SI, Kleinendorst L, van Haaften G, van der Zwaag B, Van Haelst MM. de Vries TI, et al. Among authors: van haelst mm, van der zwaag b, van haaften g. Ned Tijdschr Geneeskd. 2017;161:D688. Ned Tijdschr Geneeskd. 2017. PMID: 28351432 Dutch.
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
van den Akker WMR, Brummelman I, Martis LM, Timmermans RN, Pfundt R, Kleefstra T, Willemsen MH, Gerkes EH, Herkert JC, van Essen AJ, Rump P, Vansenne F, Terhal PA, van Haelst MM, Cristian I, Turner CE, Cho MT, Begtrup A, Willaert R, Fassi E, van Gassen KLI, Stegmann APA, de Vries BBA, Schuurs-Hoeijmakers JHM. van den Akker WMR, et al. Among authors: van essen aj, van haelst mm, van gassen kli. Clin Genet. 2018 May;93(5):1000-1007. doi: 10.1111/cge.13225. Clin Genet. 2018. PMID: 29393965
Genetic obesity: next-generation sequencing results of 1230 patients with obesity.
Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM. Kleinendorst L, et al. Among authors: van rossum efc, van haelst mm, van der zwaag b, van haaften g, van der baan slootweg oh, van den akker elt. J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3. J Med Genet. 2018. PMID: 29970488
157 results