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Items: 16

1.

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Tessadori F, Roessler HI, Savelberg SMC, Chocron S, Kamel SM, Duran KJ, van Haelst MM, van Haaften G, Bakkers J.

Dis Model Mech. 2018 Oct 18;11(10). pii: dmm035469. doi: 10.1242/dmm.035469.

2.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Rumping L, Tessadori F, Pouwels PJ, Vringer E, Wijnen JP, Bhogal AA, Savelberg SM, Duran KJ, Bakkers MJ, Ramos RJ, Schellekens PA, Kroes HY, Klomp DW, Black GC, Taylor RL, Bakkers JP, Prinsen HC, Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJ, Houwen RH, Haaften G, Verhoeven-Duif NM, Jans JJ, Hasselt PM.

Hum Mol Genet. 2018 Sep 18. doi: 10.1093/hmg/ddy330. [Epub ahead of print]

PMID:
30239721
3.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K.

Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29.

4.

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N.

J Clin Invest. 2017 Mar 1;127(3):1005-1018. doi: 10.1172/JCI90259. Epub 2017 Feb 13.

5.

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.

Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. Epub 2016 Mar 22.

PMID:
27005418
6.

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.

Genet Med. 2016 Sep;18(9):949-56. doi: 10.1038/gim.2015.200. Epub 2016 Feb 4.

PMID:
26845106
7.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

8.

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.

Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29.

9.

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.

de Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP.

Am J Hum Genet. 2015 Apr 2;96(4):651-6. doi: 10.1016/j.ajhg.2015.02.005. Epub 2015 Mar 19.

10.

Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.

Mul JD, Begg DP, Alsters SI, van Haaften G, Duran KJ, D'Alessio DA, le Roux CW, Woods SC, Sandoval DA, Blakemore AI, Cuppen E, van Haelst MM, Seeley RJ.

Am J Physiol Endocrinol Metab. 2012 Jul 1;303(1):E103-10. doi: 10.1152/ajpendo.00159.2012. Epub 2012 Apr 24.

11.

Discovery of variants unmasked by hemizygous deletions.

Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E.

Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18.

12.

Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).

Janse F, de With LM, Duran KJ, Kloosterman WP, Goverde AJ, Lambalk CB, Laven JS, Fauser BC, Giltay JC; Dutch Primary Ovarian Insufficiency Consortium.

Fertil Steril. 2012 Jan;97(1):141-6.e2. doi: 10.1016/j.fertnstert.2011.10.032. Epub 2011 Nov 17.

PMID:
22100173
13.

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, Letteboer T, van Nesselrooij B, Hochstenbach R, Poot M, Cuppen E.

Hum Mol Genet. 2011 May 15;20(10):1916-24. doi: 10.1093/hmg/ddr073. Epub 2011 Feb 24.

PMID:
21349919
14.

Characterization of COMMD protein-protein interactions in NF-kappaB signalling.

de Bie P, van de Sluis B, Burstein E, Duran KJ, Berger R, Duckett CS, Wijmenga C, Klomp LW.

Biochem J. 2006 Aug 15;398(1):63-71.

15.

A microarray screen for novel candidate genes in coeliac disease pathogenesis.

Diosdado B, Wapenaar MC, Franke L, Duran KJ, Goerres MJ, Hadithi M, Crusius JB, Meijer JW, Duggan DJ, Mulder CJ, Holstege FC, Wijmenga C.

Gut. 2004 Jul;53(7):944-51.

16.

Two newly identified HLA-DRB1 alleles: DRB1*1322 and DRB1*1327.

Duran KJ, Maeda H, Otten HG, Vries RD, Schreuder GM, Tilanus MG.

Immunogenetics. 1997;46(5):442-3. No abstract available.

PMID:
9271638

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