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Items: 47

1.

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.

Yska HAF, Elsink K, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM.

J Clin Immunol. 2019 Aug;39(6):577-591. doi: 10.1007/s10875-019-00656-x. Epub 2019 Jun 28.

2.

Automated CT quantification methods for the assessment of interstitial lung disease in collagen vascular diseases: A systematic review.

van Royen FS, Moll SA, van Laar JM, van Montfrans JM, de Jong PA, Mohamed Hoesein FAA.

Eur J Radiol. 2019 Mar;112:200-206. doi: 10.1016/j.ejrad.2019.01.024. Epub 2019 Jan 24.

PMID:
30777211
3.

Exhaustion of the CD8+ T Cell Compartment in Patients with Mutations in Phosphoinositide 3-Kinase Delta.

Wentink MWJ, Mueller YM, Dalm VASH, Driessen GJ, van Hagen PM, van Montfrans JM, van der Burg M, Katsikis PD.

Front Immunol. 2018 Mar 7;9:446. doi: 10.3389/fimmu.2018.00446. eCollection 2018.

4.

Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) controls immune synapse stability in human T cells.

Janssen WJM, Grobarova V, Leleux J, Jongeneel L, van Gijn M, van Montfrans JM, Boes M.

J Allergy Clin Immunol. 2018 Dec;142(6):1947-1955. doi: 10.1016/j.jaci.2018.01.030. Epub 2018 Feb 9.

PMID:
29432774
5.

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.

van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ.

J Biol Chem. 2017 May 12;292(19):7904-7920. doi: 10.1074/jbc.M116.772038. Epub 2017 Mar 16.

6.

IgG trough levels and progression of pulmonary disease in pediatric and adult common variable immunodeficiency disorder patients.

Janssen WJM, Mohamed Hoesein F, Van de Ven AAJM, Maarschalk J, van Royen F, de Jong PA, Sanders EAM, van Montfrans JM, Ellerbroek PM.

J Allergy Clin Immunol. 2017 Jul;140(1):303-306.e4. doi: 10.1016/j.jaci.2016.11.050. Epub 2017 Jan 23. No abstract available.

PMID:
28126376
7.

Embracing Complexity beyond Systems Medicine: A New Approach to Chronic Immune Disorders.

Te Velde AA, Bezema T, van Kampen AH, Kraneveld AD, 't Hart BA, van Middendorp H, Hack EC, van Montfrans JM, Belzer C, Jans-Beken L, Pieters RH, Knipping K, Huber M, Boots AM, Garssen J, Radstake TR, Evers AW, Prakken BJ, Joosten I.

Front Immunol. 2016 Dec 12;7:587. doi: 10.3389/fimmu.2016.00587. eCollection 2016.

8.

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.

J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18.

9.

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

Van Montfrans JM, Hartman EA, Braun KP, Hennekam EA, Hak EA, Nederkoorn PJ, Westendorp WF, Bredius RG, Kollen WJ, Schölvinck EH, Legger GE, Meyts I, Liston A, Lichtenbelt KD, Giltay JC, Van Haaften G, De Vries Simons GM, Leavis H, Sanders CJ, Bierings MB, Nierkens S, Van Gijn ME.

Rheumatology (Oxford). 2016 May;55(5):902-10. doi: 10.1093/rheumatology/kev439. Epub 2016 Feb 10.

PMID:
26867732
10.

Antigen-specific IgA titres after 23-valent pneumococcal vaccine indicate transient antibody deficiency disease in children.

Janssen WJ, Nierkens S, Sanders EA, Boes M, van Montfrans JM.

Vaccine. 2015 Nov 17;33(46):6320-6. doi: 10.1016/j.vaccine.2015.09.041. Epub 2015 Sep 28.

PMID:
26413880
11.

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT.

Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28.

12.

Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help.

Compeer EB, Janssen W, van Royen-Kerkhof A, van Gijn M, van Montfrans JM, Boes M.

Oncotarget. 2015 May 10;6(13):10759-71.

13.

TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.

van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM.

J Clin Immunol. 2015 May;35(4):416-30. doi: 10.1007/s10875-015-0152-6. Epub 2015 Apr 17. Review.

14.

Primary immunodeficiencies in the Netherlands: national patient data demonstrate the increased risk of malignancy.

Jonkman-Berk BM, van den Berg JM, Ten Berge IJ, Bredius RG, Driessen GJ, Dalm VA, van Dissel JT, van Deuren M, Ellerbroek PM, van der Flier M, van Hagen PM, van Montfrans JM, Rutgers A, Schölvinck EH, de Vries E, van Beem RT, Kuijpers TW.

Clin Immunol. 2015 Feb;156(2):154-62. doi: 10.1016/j.clim.2014.10.003. Epub 2014 Oct 24.

PMID:
25451158
15.

A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling.

Flinsenberg TW, Janssen WJ, Herczenik E, Boross P, Nederend M, Jongeneel LH, Scholman RC, Boelens JJ, Maas C, van Gijn ME, van Montfrans JM, Leusen JH, Boes M.

Clin Immunol. 2014 Nov;155(1):108-17. doi: 10.1016/j.clim.2014.09.006. Epub 2014 Sep 19.

PMID:
25242138
16.

Increased prevalence of gastrointestinal viruses and diminished secretory immunoglobulin a levels in antibody deficiencies.

van de Ven AA, Janssen WJ, Schulz LS, van Loon AM, Voorkamp K, Sanders EA, Kusters JG, Nierkens S, Boes M, Wensing AM, van Montfrans JM.

J Clin Immunol. 2014 Nov;34(8):962-70. doi: 10.1007/s10875-014-0087-3. Epub 2014 Aug 19.

PMID:
25135597
17.

CT screening for pulmonary pathology in common variable immunodeficiency disorders and the correlation with clinical and immunological parameters.

Maarschalk-Ellerbroek LJ, de Jong PA, van Montfrans JM, Lammers JW, Bloem AC, Hoepelman AI, Ellerbroek PM.

J Clin Immunol. 2014 Aug;34(6):642-54. doi: 10.1007/s10875-014-0068-6. Epub 2014 Jun 21.

PMID:
24952009
18.

B-cell development and functions and therapeutic options in adenosine deaminase-deficient patients.

Brigida I, Sauer AV, Ferrua F, Giannelli S, Scaramuzza S, Pistoia V, Castiello MC, Barendregt BH, Cicalese MP, Casiraghi M, Brombin C, Puck J, Müller K, Notarangelo LD, Montin D, van Montfrans JM, Roncarolo MG, Traggiai E, van Dongen JJ, van der Burg M, Aiuti A.

J Allergy Clin Immunol. 2014 Mar;133(3):799-806.e10. doi: 10.1016/j.jaci.2013.12.1043. Epub 2014 Feb 5.

19.

Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.

IJspeert H, Driessen GJ, Moorhouse MJ, Hartwig NG, Wolska-Kusnierz B, Kalwak K, Pituch-Noworolska A, Kondratenko I, van Montfrans JM, Mejstrikova E, Lankester AC, Langerak AW, van Gent DC, Stubbs AP, van Dongen JJ, van der Burg M.

J Allergy Clin Immunol. 2014 Apr;133(4):1124-33. doi: 10.1016/j.jaci.2013.11.028. Epub 2014 Jan 11.

PMID:
24418478
20.

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME.

J Allergy Clin Immunol. 2014 Feb;133(2):529-34. doi: 10.1016/j.jaci.2013.08.032. Epub 2013 Oct 15. Erratum in: J Allergy Clin Immunol. 2014 Apr;133(4):1232.

PMID:
24139496
21.

Measurement of pneumococcal polysaccharide vaccine responses for immunodeficiency diagnostics: combined IgG responses compared to serotype specific IgG responses.

Janssen WJ, Bloem AC, Vellekoop P, Driessen GJ, Boes M, van Montfrans JM.

J Clin Immunol. 2014 Jan;34(1):3-6. doi: 10.1007/s10875-013-9925-y. Epub 2013 Jul 24. No abstract available.

PMID:
23881353
22.

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D.

Eur J Hum Genet. 2013 Oct;21(10):1079-84. doi: 10.1038/ejhg.2012.310. Epub 2013 Jan 23.

23.

The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital.

Maarschalk-Ellerbroek LJ, Hoepelman AI, van Montfrans JM, Ellerbroek PM.

J Clin Immunol. 2012 Oct;32(5):907-21. doi: 10.1007/s10875-012-9671-6. Epub 2012 Apr 13.

24.

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia.

van Montfrans JM, Hoepelman AI, Otto S, van Gijn M, van de Corput L, de Weger RA, Monaco-Shawver L, Banerjee PP, Sanders EA, Jol-van der Zijde CM, Betts MR, Orange JS, Bloem AC, Tesselaar K.

J Allergy Clin Immunol. 2012 Mar;129(3):787-793.e6. doi: 10.1016/j.jaci.2011.11.013. Epub 2011 Dec 24.

25.

Defective calcium signaling and disrupted CD20-B-cell receptor dissociation in patients with common variable immunodeficiency disorders.

van de Ven AA, Compeer EB, Bloem AC, van de Corput L, van Gijn M, van Montfrans JM, Boes M.

J Allergy Clin Immunol. 2012 Mar;129(3):755-761.e7. doi: 10.1016/j.jaci.2011.10.020. Epub 2011 Nov 30.

PMID:
22130422
26.

The role of prolonged viral gastrointestinal infections in the development of immunodeficiency-related enteropathy.

van de Ven AA, Hoytema van Konijnenburg DP, Wensing AM, van Montfrans JM.

Clin Rev Allergy Immunol. 2012 Feb;42(1):79-91. doi: 10.1007/s12016-011-8292-9. Review.

PMID:
22116710
27.

Early menopause in mothers of children with Down syndrome?

van der Stroom EM, König TE, van Dulmen-den Broeder E, Elzinga WS, van Montfrans JM, Haadsma ML, Lambalk CB.

Fertil Steril. 2011 Oct;96(4):985-90. doi: 10.1016/j.fertnstert.2011.07.1149.

PMID:
21961919
28.

Pleconaril-resistant chronic parechovirus-associated enteropathy in agammaglobulinaemia.

van de Ven AA, Douma JW, Rademaker C, van Loon AM, Wensing AM, Boelens JJ, Sanders EA, van Montfrans JM.

Antivir Ther. 2011;16(4):611-4. doi: 10.3851/IMP1792.

PMID:
21685550
29.

High-resolution computed tomography and pulmonary function in children with common variable immunodeficiency.

van Zeggeren L, van de Ven AA, Terheggen-Lagro SW, Mets OM, Beek FJ, van Montfrans JM, de Jong PA.

Eur Respir J. 2011 Dec;38(6):1437-43. doi: 10.1183/09031936.00173410. Epub 2011 Jun 9.

30.

Airway and interstitial lung disease are distinct entities in paediatric common variable immunodeficiency.

van de Ven AA, de Jong PA, Hoytema van Konijnenburg DP, Kessels OA, Boes M, Sanders EA, Terheggen-Lagro SW, van Montfrans JM.

Clin Exp Immunol. 2011 Aug;165(2):235-42. doi: 10.1111/j.1365-2249.2011.04425.x. Epub 2011 Jun 2.

31.

B-cell defects in common variable immunodeficiency: BCR signaling, protein clustering and hardwired gene mutations.

van de Ven AA, Compeer EB, van Montfrans JM, Boes M.

Crit Rev Immunol. 2011;31(2):85-98. Review.

PMID:
21542788
32.

Clinical complications in pediatric CVID are not restricted to patients with severely reduced class-switched memory B cells.

van de Ven AA, van Montfrans JM.

Pediatr Allergy Immunol. 2011 May;22(3):347-8. doi: 10.1111/j.1399-3038.2010.01085.x. No abstract available.

PMID:
21457341
33.

T-cell response to viral antigens in adults and children with common variable immunodeficiency and specific antibody deficiency.

Haveman LM, Scherrenburg J, Maarschalk-Ellerbroek LJ, Hoek PD, Schuurman R, de Jager W, Ellerbroek PM, Prakken BJ, van Baarle D, van Montfrans JM.

Clin Exp Immunol. 2010 Jul 1;161(1):108-17. doi: 10.1111/j.1365-2249.2010.04159.x. Epub 2010 Apr 9.

34.

A CT scan score for the assessment of lung disease in children with common variable immunodeficiency disorders.

van de Ven AA, van Montfrans JM, Terheggen-Lagro SW, Beek FJ, Hoytema van Konijnenburg DP, Kessels OA, de Jong PA.

Chest. 2010 Aug;138(2):371-9. doi: 10.1378/chest.09-2398. Epub 2010 Mar 18.

PMID:
20299624
35.

Lymphocyte characteristics in children with common variable immunodeficiency.

van de Ven AA, van de Corput L, van Tilburg CM, Tesselaar K, van Gent R, Sanders EA, Boes M, Bloem AC, van Montfrans JM.

Clin Immunol. 2010 Apr;135(1):63-71. doi: 10.1016/j.clim.2009.11.010. Epub 2009 Dec 16.

PMID:
20006554
36.

Detection of pulmonary complications in common variable immunodeficiency.

Touw CM, van de Ven AA, de Jong PA, Terheggen-Lagro S, Beek E, Sanders EA, van Montfrans JM.

Pediatr Allergy Immunol. 2010 Aug;21(5):793-805. doi: 10.1111/j.1399-3038.2009.00963.x. Epub 2009 Nov 13. Review.

PMID:
19912551
37.

Life-threatening human herpes virus-6 infection in early childhood: presenting symptom of a primary immunodeficiency?

Hennus MP, van Montfrans JM, van Vught AJ, Tesselaar K, Boelens JJ, Jansen NJ.

Pediatr Crit Care Med. 2009 Mar;10(2):e16-8. doi: 10.1097/PCC.0b013e31819bb956.

PMID:
19265361
38.

Fatal hemophagocytic lymphohistiocytosis in X-linked chronic granulomatous disease associated with a perforin gene variant.

van Montfrans JM, Rudd E, van de Corput L, Henter JI, Nikkels P, Wulffraat N, Boelens JJ.

Pediatr Blood Cancer. 2009 Apr;52(4):527-9. doi: 10.1002/pbc.21851.

PMID:
19058215
39.

The distribution of FSH receptor isoforms is related to basal FSH levels in subfertile women with normal menstrual cycles.

de Koning CH, Benjamins T, Harms P, Homburg R, van Montfrans JM, Gromoll J, Simoni M, Lambalk CB.

Hum Reprod. 2006 Feb;21(2):443-6. Epub 2005 Sep 30.

PMID:
16199427
40.

Basal FSH concentrations as a marker of ovarian ageing are not related to pregnancy outcome in a general population of women over 30 years.

van Montfrans JM, van Hooff MH, Huirne JA, Tanahatoe SJ, Sadrezadeh S, Martens F, van Vugt JM, Lambalk CB.

Hum Reprod. 2004 Feb;19(2):430-4.

PMID:
14747192
41.

Birth weight corrected for gestational age is related to the incidence of Down's syndrome pregnancies.

van Montfrans JM, Bakker PS, Rekers-Mombarg LT, van Weissenbruch MM, Lambalk CB.

Twin Res. 2001 Oct;4(5):318-20.

PMID:
11869482
42.

Basal FSH, estradiol and inhibin B concentrations in women with a previous Down's syndrome affected pregnancy.

van Montfrans JM, van Hooff MH, Martens F, Lambalk CB.

Hum Reprod. 2002 Jan;17(1):44-7.

PMID:
11756360
43.

Are elevated FSH concentrations in the pre-conceptional period a risk factor for Down's syndrome pregnancies?

van Montfrans JM, Lambalk CB, van Hooff MH, van Vugt JM.

Hum Reprod. 2001 Jun;16(6):1270-3.

PMID:
11387304
44.

Predictive value of basal follicle-stimulating hormone concentrations in a general subfertility population.

van Montfrans JM, Hoek A, van Hooff MH, de Koning CH, Tonch N, Lambalk CB.

Fertil Steril. 2000 Jul;74(1):97-103.

PMID:
10899504
45.

Increased concentrations of follicle-stimulating hormone in mothers of children with Down's syndrome.

van Montfrans JM, Dorland M, Oosterhuis GJ, van Vugt JM, Rekers-Mombarg LT, Lambalk CB.

Lancet. 1999 May 29;353(9167):1853-4. No abstract available.

PMID:
10359418
46.

Normal telomere lengths in young mothers of children with Down's syndrome.

Dorland M, van Montfrans JM, van Kooij RJ, Lambalk CB, te Velde ER.

Lancet. 1998 Sep 19;352(9132):961-2. No abstract available.

PMID:
9752826
47.

Treatment of hyperinsulinaemia in polycystic ovary syndrome?

van Montfrans JM, van Hooff MH, Hompes PG, Lambalk CB.

Hum Reprod. 1998 Jan;13(1):5-6. Review. No abstract available.

PMID:
9512218

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