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Page 1
Drug Repurposing for Rare Diseases.
Roessler HI, Knoers NVAM, van Haelst MM, van Haaften G. Roessler HI, et al. Among authors: knoers nvam. Trends Pharmacol Sci. 2021 Apr;42(4):255-267. doi: 10.1016/j.tips.2021.01.003. Epub 2021 Feb 6. Trends Pharmacol Sci. 2021. PMID: 33563480 Review.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Grange DK, Roessler HI, McClenaghan C, Duran K, Shields K, Remedi MS, Knoers NVAM, Lee JM, Kirk EP, Scurr I, Smithson SF, Singh GK, van Haelst MM, Nichols CG, van Haaften G. Grange DK, et al. Among authors: knoers nvam. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):658-681. doi: 10.1002/ajmg.c.31753. Am J Med Genet C Semin Med Genet. 2019. PMID: 31828977 Free PMC article.
Three-dimensional facial morphology in Cantú syndrome.
Roessler HI, Shields K, Grange DK, Knoers NVAM, van Haaften G, Hammond P, van Haelst MM. Roessler HI, et al. Among authors: knoers nvam. Am J Med Genet A. 2020 May;182(5):1041-1052. doi: 10.1002/ajmg.a.61517. Epub 2020 Feb 26. Am J Med Genet A. 2020. PMID: 32100467 Free PMC article.
Behavioral and cognitive functioning in individuals with Cantú syndrome.
Roessler HI, van der Heuvel LM, Shields K, Guilliams KP, Knoers NVAM, van Haaften G, Grange DK, van Haelst MM. Roessler HI, et al. Among authors: knoers nvam. Am J Med Genet A. 2021 Aug;185(8):2434-2444. doi: 10.1002/ajmg.a.62348. Epub 2021 May 30. Am J Med Genet A. 2021. PMID: 34056838 Free PMC article.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
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. 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.
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
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G. Kroes HY, et al. Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920555 Free PMC article.
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: knoers nvam. 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
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: knoers nvam. 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.
279 results