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Items: 31

1.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A.

Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3.

2.

A systems genomics approach identifies SIGLEC15 as a susceptibility factor in recurrent vulvovaginal candidiasis.

Jaeger M, Pinelli M, Borghi M, Constantini C, Dindo M, van Emst L, Puccetti M, Pariano M, Ricaño-Ponce I, Büll C, Gresnigt MS, Wang X, Gutierrez Achury J, Jacobs CWM, Xu N, Oosting M, Arts P, Joosten LAB, van de Veerdonk FL, Veltman JA, Ten Oever J, Kullberg BJ, Feng M, Adema GJ, Wijmenga C, Kumar V, Sobel J, Gilissen C, Romani L, Netea MG.

Sci Transl Med. 2019 Jun 12;11(496). pii: eaar3558. doi: 10.1126/scitranslmed.aar3558.

PMID:
31189718
3.

The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution.

Singhal D, Wee LYA, Kutyna MM, Chhetri R, Geoghegan J, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Hiwase S, Edwards S, Moore S, Branford S, Kuzmanovic T, Singhal N, Gowda R, Brown AL, Arts P, To LB, Bardy PG, Lewis ID, D'Andrea RJ, Maciejewski JP, Scott HS, Hahn CN, Hiwase DK.

Leukemia. 2019 May 14. doi: 10.1038/s41375-019-0479-8. [Epub ahead of print]

PMID:
31089247
4.

Exercise Training Induces Depot-Specific Adaptations to White and Brown Adipose Tissue.

Lehnig AC, Dewal RS, Baer LA, Kitching KM, Munoz VR, Arts PJ, Sindeldecker DA, May FJ, Lauritzen HPMM, Goodyear LJ, Stanford KI.

iScience. 2019 Jan 25;11:425-439. doi: 10.1016/j.isci.2018.12.033. Epub 2019 Jan 3.

5.

12,13-diHOME: An Exercise-Induced Lipokine that Increases Skeletal Muscle Fatty Acid Uptake.

Stanford KI, Lynes MD, Takahashi H, Baer LA, Arts PJ, May FJ, Lehnig AC, Middelbeek RJW, Richard JJ, So K, Chen EY, Gao F, Narain NR, Distefano G, Shettigar VK, Hirshman MF, Ziolo MT, Kiebish MA, Tseng YH, Coen PM, Goodyear LJ.

Cell Metab. 2018 Jun 5;27(6):1357. doi: 10.1016/j.cmet.2018.04.023. No abstract available.

6.

12,13-diHOME: An Exercise-Induced Lipokine that Increases Skeletal Muscle Fatty Acid Uptake.

Stanford KI, Lynes MD, Takahashi H, Baer LA, Arts PJ, May FJ, Lehnig AC, Middelbeek RJW, Richard JJ, So K, Chen EY, Gao F, Narain NR, Distefano G, Shettigar VK, Hirshman MF, Ziolo MT, Kiebish MA, Tseng YH, Coen PM, Goodyear LJ.

Cell Metab. 2018 May 1;27(5):1111-1120.e3. doi: 10.1016/j.cmet.2018.03.020. Erratum in: Cell Metab. 2018 Jun 5;27(6):1357.

7.

Rare NOX3 Variants Confer Susceptibility to Agranulocytosis During Thyrostatic Treatment of Graves' Disease.

Plantinga TS, Arts P, Knarren GH, Mulder AH, Wakelkamp IM, Hermus AR, Joosten LA, Netea MG, Bisschop PH, de Herder WW, Beijers HJ, de Bruin IJ, Gilissen C, Veltman JA, Hoischen A, Smit JW, Netea-Maier RT.

Clin Pharmacol Ther. 2017 Dec;102(6):1017-1024. doi: 10.1002/cpt.733. Epub 2017 Jul 10.

PMID:
28486791
8.

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA.

Arts P, van der Raadt J, van Gestel SHC, Steehouwer M, Shendure J, Hoischen A, Albers CA.

Nat Commun. 2017 May 5;8:15190. doi: 10.1038/ncomms15190.

9.

MST1R mutation as a genetic cause of Lady Windermere syndrome.

Becker KL, Arts P, Jaeger M, Plantinga TS, Gilissen C, van Laarhoven A, van Ingen J, Veltman JA, Joosten LA, Hoischen A, Netea MG, Iseman MD, Chan ED, van de Veerdonk FL.

Eur Respir J. 2017 Jan 18;49(1). pii: 1601478. doi: 10.1183/13993003.01478-2016. Print 2017 Jan. No abstract available.

10.

Gout and rheumatoid arthritis, both to keep in mind in cardiovascular risk management: A primary care retrospective cohort study.

Janssens HJ, Arts PG, Schalk BW, Biermans MC.

Joint Bone Spine. 2017 Jan;84(1):59-64. doi: 10.1016/j.jbspin.2015.12.003. Epub 2016 May 25.

PMID:
27236260
11.

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy.

Arts P, van de Veerdonk FL, van der Lee R, Langereis MA, Gilissen C, van Zelst-Stams WAG, Huynen MA, van der Meer JWM, van Kuppeveld FJ, Veltman JA, Kullberg BJ, Hoischen A, Netea MG.

J Allergy Clin Immunol. 2016 Sep;138(3):895-898. doi: 10.1016/j.jaci.2016.02.025. Epub 2016 Apr 7. No abstract available.

PMID:
27132219
12.

Progressive multifocal leukoencephalopathy in an immunocompetent patient.

van der Kolk NM, Arts P, van Uden IW, Hoischen A, van de Veerdonk FL, Netea MG, de Jong BA.

Ann Clin Transl Neurol. 2016 Jan 8;3(3):226-32. doi: 10.1002/acn3.279. eCollection 2016 Mar.

13.

A missense mutation underlies defective SOCS4 function in a family with autoimmunity.

Arts P, Plantinga TS, van den Berg JM, Gilissen C, Veltman JA, van Trotsenburg AS, van de Veerdonk FL, Kuijpers TW, Hoischen A, Netea MG.

J Intern Med. 2015 Aug;278(2):203-10. doi: 10.1111/joim.12351. Epub 2015 Mar 10.

14.

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Kumar R, Corbett MA, Smith NJ, Jolly LA, Tan C, Keating DJ, Duffield MD, Utsumi T, Moriya K, Smith KR, Hoischen A, Abbott K, Harbord MG, Compton AG, Woenig JA, Arts P, Kwint M, Wieskamp N, Gijsen S, Veltman JA, Bahlo M, Gleeson JG, Haan E, Gecz J.

Hum Mol Genet. 2015 Apr 1;24(7):2000-10. doi: 10.1093/hmg/ddu614. Epub 2014 Dec 11.

PMID:
25504045
15.

Human TLR10 is an anti-inflammatory pattern-recognition receptor.

Oosting M, Cheng SC, Bolscher JM, Vestering-Stenger R, Plantinga TS, Verschueren IC, Arts P, Garritsen A, van Eenennaam H, Sturm P, Kullberg BJ, Hoischen A, Adema GJ, van der Meer JW, Netea MG, Joosten LA.

Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4478-84. doi: 10.1073/pnas.1410293111. Epub 2014 Oct 6.

16.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A.

Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26.

PMID:
23320472
17.

Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans.

Smeekens SP, Ng A, Kumar V, Johnson MD, Plantinga TS, van Diemen C, Arts P, Verwiel ET, Gresnigt MS, Fransen K, van Sommeren S, Oosting M, Cheng SC, Joosten LA, Hoischen A, Kullberg BJ, Scott WK, Perfect JR, van der Meer JW, Wijmenga C, Netea MG, Xavier RJ.

Nat Commun. 2013;4:1342. doi: 10.1038/ncomms2343.

18.

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

van de Veerdonk FL, Plantinga TS, Hoischen A, Smeekens SP, Joosten LA, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Smits-van der Graaf CA, Kullberg BJ, van der Meer JW, Lilic D, Veltman JA, Netea MG.

N Engl J Med. 2011 Jul 7;365(1):54-61. doi: 10.1056/NEJMoa1100102. Epub 2011 Jun 29.

19.

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.

Vermeer S, Hoischen A, Meijer RP, Gilissen C, Neveling K, Wieskamp N, de Brouwer A, Koenig M, Anheim M, Assoum M, Drouot N, Todorovic S, Milic-Rasic V, Lochmüller H, Stevanin G, Goizet C, David A, Durr A, Brice A, Kremer B, van de Warrenburg BP, Schijvenaars MM, Heister A, Kwint M, Arts P, van der Wijst J, Veltman J, Kamsteeg EJ, Scheffer H, Knoers N.

Am J Hum Genet. 2010 Dec 10;87(6):813-9. doi: 10.1016/j.ajhg.2010.10.015. Epub 2010 Nov 18.

20.

A de novo paradigm for mental retardation.

Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA.

Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14.

PMID:
21076407
21.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG.

Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004.

22.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.

Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA.

Nat Genet. 2010 Jun;42(6):483-5. doi: 10.1038/ng.581. Epub 2010 May 2.

PMID:
20436468
23.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW.

Am J Hum Genet. 2010 Feb 12;86(2):240-7. doi: 10.1016/j.ajhg.2009.12.016.

24.

Massively parallel sequencing of ataxia genes after array-based enrichment.

Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA.

Hum Mutat. 2010 Apr;31(4):494-9. doi: 10.1002/humu.21221.

PMID:
20151403
25.

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

Ligtenberg MJ, Hogervorst FB, Willems HW, Arts PJ, Brink G, Hageman S, Bosgoed EA, Van der Looij E, Rookus MA, Devilee P, Vos EM, Wigbout G, Struycken PM, Menko FH, Rutgers EJ, Hoefsloot EH, Mariman EC, Brunner HG, Van 't Veer LJ.

Br J Cancer. 1999 Mar;79(9-10):1475-8.

26.

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.

Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drüsedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van 't Veer LJ, Bakker E, van Ommen GJ, Devilee P.

Nat Genet. 1997 Nov;17(3):341-5. Erratum in: Nat Genet 1997 Dec;17(4):503.

PMID:
9354803
27.

A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples.

De Coo IF, Gussinklo T, Arts PJ, Van Oost BA, Smeets HJ.

J Neurol Sci. 1997 Jul;149(1):37-40.

PMID:
9168163
28.

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.

Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, van den Ouweland AM, Hogervorst F, Brohet R, Ligtenberg MJ, Teugels E, van der Luijt R, van der Hout AH, Gille JJ, Pals G, Jedema I, Olmer R, van Leeuwen I, Newman B, Plandsoen M, van der Est M, Brink G, Hageman S, Arts PJ, Bakker MM, Devilee P, et al.

Am J Hum Genet. 1997 May;60(5):1041-9.

29.

Heterogeneity of biofilms in rotating annular reactors: Occurrence, structure, and consequences.

Gjaltema A, Arts PA, van Loosdrecht MC, Kuenen JG, Heijnen JJ.

Biotechnol Bioeng. 1994 Jun 20;44(2):194-204.

PMID:
18618685
30.

Growth-rate-dependent synthesis of K99 fimbrial subunits is regulated at the level of transcription.

van der Woude MW, Arts PA, Bakker D, van Verseveld HW, de Graaf FK.

J Gen Microbiol. 1990 May;136(5):897-903.

PMID:
1974281
31.

Protein tolerance in liver disease.

Leevy CM, Chey WY, Arts PA, Mendenhall CL, Howard MM.

Am J Clin Nutr. 1962 Jan;10:46-55. doi: 10.1093/ajcn/10.1.46. No abstract available.

PMID:
14463637

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