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Page 1
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. van der Crabben SN, et al. Among authors: van hasselt pm, van lieshout s, van haaften g, van roosmalen mj, van montfrans jm. J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18. J Clin Invest. 2016. PMID: 27427983 Free PMC article.
ABL-class Genomic Breakpoint Q-PCR: A Patient-specific Approach for MRD Monitoring in Acute Lymphoblastic Leukemia.
van Outersterp I, van der Velden VHJ, Hoogeveen PG, Vaitkevičienė GE, Sonneveld E, van Haaften G, Kuiper RP, Zur Stadt U, Escherich G, Boer JM, den Boer ML. van Outersterp I, et al. Among authors: van haaften g. Hemasphere. 2023 Sep 19;7(10):e967. doi: 10.1097/HS9.0000000000000967. eCollection 2023 Oct. Hemasphere. 2023. PMID: 37736661 Free PMC article. No abstract available.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: van haaften g. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857 Free PMC article.
Histones: coming of age in Mendelian genetic disorders.
Knapp K, Naik N, Ray S, van Haaften G, Bicknell LS. Knapp K, et al. Among authors: van haaften g. J Med Genet. 2023 Mar;60(3):213-222. doi: 10.1136/jmg-2022-109085. Epub 2023 Jan 23. J Med Genet. 2023. PMID: 36690428 Review.
Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.
Créton M, Wagener F, Massink M, Fennis W, Bloemen M, Schols J, Aarts M, van der Molen AM, van Haaften G, van den Boogaard MJ. Créton M, et al. Among authors: van den boogaard mj, van der molen am, van haaften g. Am J Med Genet A. 2023 Apr;191(4):1083-1088. doi: 10.1002/ajmg.a.63101. Epub 2023 Jan 3. Am J Med Genet A. 2023. PMID: 36595458
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.
Gao J, McClenaghan C, Christiaans I, Alders M, van Duinen K, van Haelst MM, van Haaften G, Nichols CG. Gao J, et al. Among authors: van haelst mm, van duinen k, van haaften g. Eur J Hum Genet. 2023 Feb;31(2):188-194. doi: 10.1038/s41431-022-01210-x. Epub 2022 Nov 7. Eur J Hum Genet. 2023. PMID: 36336713 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. Among authors: van haelst mm, van lieshout s, van haaften g, van der smagt jj, van harssel jj, van der heyden ma. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
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. Among authors: van haelst m, van lieshout s, van den boogaard mj, van haaften g, van tuil mc. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM. van der Crabben SN, et al. Among authors: van haelst mm, van haaften g, van berkestijn fm, van vught aj. Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259184 Review.
95 results