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Items: 38

1.

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R, Blok MJ, Lekanne Deprez RH, Waisfisz Q, Abbott KM, Sinke RJ, Rahman R, Nijman IJ, de Koning B, Thijs G, Wieskamp N, Moritz RJG, Charbon B, Saris JJ, den Dunnen JT, Laros JFJ, Swertz MA, van Gijn ME.

Hum Mutat. 2019 Aug 21. doi: 10.1002/humu.23896. [Epub ahead of print]

PMID:
31433103
2.

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.

Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M.

Rheumatology (Oxford). 2019 Aug 13. pii: kez376. doi: 10.1093/rheumatology/kez376. [Epub ahead of print] No abstract available.

PMID:
31410474
3.

A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease.

Smits BM, Lelieveld PHC, Ververs FA, Turkenburg M, de Koning C, van Dijk M, Leavis HL, Boelens JJ, Lindemans CA, Bloem AC, van de Corput L, van Montfrans J, Nierkens S, van Gijn ME, Geerke DP, Waterham HR, Koenderman L, Boes M.

Clin Immunol. 2019 Aug 2:108248. doi: 10.1016/j.clim.2019.108248. [Epub ahead of print] No abstract available.

PMID:
31382036
4.

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers

Papa R, Rusmini M, Volpi S, Caorsi R, Picco P, Grossi A, Caroli F, Bovis F, Musso V, Obici L, Castana C, Ravelli A, Van Gijn ME, Ceccherini I, Gattorno M.

Rheumatology (Oxford). 2019 Jul 19. pii: kez270. doi: 10.1093/rheumatology/kez270. [Epub ahead of print]

PMID:
31325311
5.

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.

6.

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.

Hagl B, Spielberger BD, Thoene S, Bonnal S, Mertes C, Winter C, Nijman IJ, Verduin S, Eberherr AC, Puel A, Schindler D, Ruland J, Meitinger T, Gagneur J, Orange JS, van Gijn ME, Renner ED.

Sci Rep. 2018 Nov 13;8(1):16719. doi: 10.1038/s41598-018-34953-z.

7.

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.

J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29.

PMID:
29599418
8.

Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' MECOM.

van der Veken LT, Maiburg MC, Groenendaal F, van Gijn ME, Bloem AC, Erpelinck C, Gröschel S, Sanders MA, Delwel R, Bierings MB, Buijs A.

Haematologica. 2018 Apr;103(4):e173-e176. doi: 10.3324/haematol.2017.185033. Epub 2018 Feb 8. No abstract available.

9.

The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond.

Klötgen HW, Beltraminelli H, Yawalkar N, van Gijn ME, Holzinger D, Borradori L.

Br J Dermatol. 2018 Apr;178(4):982-983. doi: 10.1111/bjd.16136. Epub 2018 Feb 23. No abstract available.

PMID:
29150835
10.

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.

Volker-Touw CM, de Koning HD, Giltay JC, de Kovel CG, van Kempen TS, Oberndorff KM, Boes ML, van Steensel MA, van Well GT, Blokx WA, Schalkwijk J, Simon A, Frenkel J, van Gijn ME.

Br J Dermatol. 2017 Jan;176(1):244-248. doi: 10.1111/bjd.14757. Epub 2016 Dec 8. No abstract available.

PMID:
27203668
11.

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
12.

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).

Jeyaratnam J, Ter Haar NM, de Sain-van der Velden MG, Waterham HR, van Gijn ME, Frenkel J.

JIMD Rep. 2016;27:33-8. doi: 10.1007/8904_2015_489. Epub 2015 Sep 27.

13.

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
14.

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.

de Koning HD, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PL, Elferink MG, Nijman IJ, Jansen PA, Neveling K, van der Meer JW, Schalkwijk J, Simon A.

J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16. No abstract available.

PMID:
25239704
15.

Recurrent pyoderma gangrenosum and cystic acne associated with leucocyte adhesion deficiency due to novel mutations in ITGB2: successful treatment with infliximab and adalimumab.

Vahlquist A, Håkansson LD, Rönnblom L, Karawajczyk M, Fasth A, van Gijn ME, Roos D, Venge P.

Acta Derm Venereol. 2015 Mar;95(3):349-51. doi: 10.2340/00015555-1929. No abstract available.

16.

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
17.

Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes.

Hochstenbach R, van Gijn ME, Krijtenburg PJ, Raemakers R, van 't Slot R, Renkens I, Eleveld MJ, van der Smagt JJ, Poot M.

Mol Syndromol. 2013 Jan;3(6):274-83. doi: 10.1159/000345241. Epub 2012 Nov 20.

18.

Acceptance of genetic counseling and testing in a hospital-based series of patients with gynecological cancer.

Dekker N, van Dorst EB, van der Luijt RB, van Gijn ME, van Tuil M, Offerhaus JA, Ausems MG.

J Genet Couns. 2013 Jun;22(3):345-57. doi: 10.1007/s10897-012-9553-3. Epub 2012 Nov 30.

PMID:
23192360
19.

Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Shinar Y, Obici L, Aksentijevich I, Bennetts B, Austrup F, Ceccherini I, Costa JM, De Leener A, Gattorno M, Kania U, Kone-Paut I, Lezer S, Livneh A, Moix I, Nishikomori R, Ozen S, Phylactou L, Risom L, Rowczenio D, Sarkisian T, van Gijn ME, Witsch-Baumgartner M, Morris M, Hoffman HM, Touitou I; European Molecular Genetics Quality Network.

Ann Rheum Dis. 2012 Oct;71(10):1599-605. doi: 10.1136/annrheumdis-2011-201271. Epub 2012 Jun 1.

20.

Mutation screening of the IL-1 receptor antagonist gene in chronic non-bacterial osteomyelitis of childhood and adolescence.

Beck C, Girschick HJ, Morbach H, Schwarz T, Yimam T, Frenkel J, van Gijn ME.

Clin Exp Rheumatol. 2011 Nov-Dec;29(6):1040-3. Epub 2011 Dec 22.

PMID:
22032624
21.

A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.

Elstak ED, te Loo M, Tesselaar K, van Kerkhof P, Loeffen J, Grivas D, Hennekam E, Boelens JJ, Hoogerbrugge PM, van der Sluijs P, van Gijn ME, van de Corput L.

Pediatr Blood Cancer. 2012 Apr;58(4):598-605. doi: 10.1002/pbc.23253. Epub 2011 Jul 13.

PMID:
21755595
22.

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M, Haufe A, Kamping E, Niessen RC, Hogervorst FB, Gille JJ, Redeker B, Tops CM, van Gijn ME, van den Ouweland AM, Rahner N, Steinke V, Kahl P, Holinski-Feder E, Morak M, Kloor M, Stemmler S, Betz B, Hutter P, Bunyan DJ, Syngal S, Culver JO, Graham T, Chan TL, Nagtegaal ID, van Krieken JH, Schackert HK, Hoogerbrugge N, van Kessel AG, Ligtenberg MJ.

Hum Mutat. 2011 Apr;32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1.

PMID:
21309036
23.

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.

Kempers MJ, Kuiper RP, Ockeloen CW, Chappuis PO, Hutter P, Rahner N, Schackert HK, Steinke V, Holinski-Feder E, Morak M, Kloor M, Büttner R, Verwiel ET, van Krieken JH, Nagtegaal ID, Goossens M, van der Post RS, Niessen RC, Sijmons RH, Kluijt I, Hogervorst FB, Leter EM, Gille JJ, Aalfs CM, Redeker EJ, Hes FJ, Tops CM, van Nesselrooij BP, van Gijn ME, Gómez García EB, Eccles DM, Bunyan DJ, Syngal S, Stoffel EM, Culver JO, Palomares MR, Graham T, Velsher L, Papp J, Oláh E, Chan TL, Leung SY, van Kessel AG, Kiemeney LA, Hoogerbrugge N, Ligtenberg MJ.

Lancet Oncol. 2011 Jan;12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8.

24.

Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report.

Korppi M, Van Gijn ME, Antila K.

Acta Paediatr. 2011 Jan;100(1):21-5. doi: 10.1111/j.1651-2227.2010.01974.x. Epub 2010 Aug 26. Review.

PMID:
20712835
25.

A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.

van Riel E, Ausems MG, Hogervorst FB, Kluijt I, van Gijn ME, van Echtelt J, Scheidel-Jacobse K, Hennekam EF, Stulp RP, Vos YJ, Offerhaus GJ, Menko FH, Gille JJ.

Hered Cancer Clin Pract. 2010 Aug 12;8(1):7. doi: 10.1186/1897-4287-8-7.

26.

[DIRA: life-threatening but treatable inherited inflammatory disease].

ter Haar NM, van Royen A, van Gijn ME, Frenkel J.

Ned Tijdschr Geneeskd. 2010;154:A1601. Dutch.

PMID:
20482912
27.

Transcription factor achaete scute-like 2 controls intestinal stem cell fate.

van der Flier LG, van Gijn ME, Hatzis P, Kujala P, Haegebarth A, Stange DE, Begthel H, van den Born M, Guryev V, Oving I, van Es JH, Barker N, Peters PJ, van de Wetering M, Clevers H.

Cell. 2009 Mar 6;136(5):903-12. doi: 10.1016/j.cell.2009.01.031.

28.

A transgenic mouse model for "lipid hang-up", or why pathologists need to be involved in genetically engineered mouse modelling.

Offerhaus GJ, Milne AN, Oving IM, van Gijn ME, Hruban RH, Clevers H.

Gut. 2008 Dec;57(12):1739-40. doi: 10.1136/gut.2008.161109. No abstract available.

PMID:
19022932
29.

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres.

van Gijn ME, Soler S, de la Chapelle C, Mulder M, Ritorre C, Kriek M, Philibert L, van der Wielen M, Frenkel J, Grandemange S, Bakker E, Ploos van Amstel JK, Touitou I.

Eur J Hum Genet. 2008 Nov;16(11):1404-6. doi: 10.1038/ejhg.2008.135. Epub 2008 Jul 23.

30.

Loss of intestinal crypt progenitor cells owing to inactivation of both Notch1 and Notch2 is accompanied by derepression of CDK inhibitors p27Kip1 and p57Kip2.

Riccio O, van Gijn ME, Bezdek AC, Pellegrinet L, van Es JH, Zimber-Strobl U, Strobl LJ, Honjo T, Clevers H, Radtke F.

EMBO Rep. 2008 Apr;9(4):377-83. doi: 10.1038/embor.2008.7. Epub 2008 Feb 15.

31.

Two pathogenic CIAS1 mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra.

Kaipiainen-Seppänen O, Punnonen K, van Gijn ME, Mononen T.

Scand J Rheumatol. 2008 Jan-Feb;37(1):75-6. doi: 10.1080/03009740701691491. No abstract available.

PMID:
18189199
32.

The Intestinal Wnt/TCF Signature.

Van der Flier LG, Sabates-Bellver J, Oving I, Haegebarth A, De Palo M, Anti M, Van Gijn ME, Suijkerbuijk S, Van de Wetering M, Marra G, Clevers H.

Gastroenterology. 2007 Feb;132(2):628-32. Epub 2006 Aug 18.

PMID:
17320548
33.

Notch/gamma-secretase inhibition turns proliferative cells in intestinal crypts and adenomas into goblet cells.

van Es JH, van Gijn ME, Riccio O, van den Born M, Vooijs M, Begthel H, Cozijnsen M, Robine S, Winton DJ, Radtke F, Clevers H.

Nature. 2005 Jun 16;435(7044):959-63.

PMID:
15959515
34.

Wnt signalling induces maturation of Paneth cells in intestinal crypts.

van Es JH, Jay P, Gregorieff A, van Gijn ME, Jonkheer S, Hatzis P, Thiele A, van den Born M, Begthel H, Brabletz T, Taketo MM, Clevers H.

Nat Cell Biol. 2005 Apr;7(4):381-6. Epub 2005 Mar 20.

PMID:
15778706
35.

The wnt-frizzled cascade in cardiovascular disease.

van Gijn ME, Daemen MJ, Smits JF, Blankesteijn WM.

Cardiovasc Res. 2002 Jul;55(1):16-24. Review. No abstract available.

PMID:
12062705
36.

Frizzled 2 is transiently expressed in neural crest-containing areas during development of the heart and great arteries in the mouse.

van Gijn ME, Blankesteijn WM, Smits JF, Hierck B, Gittenberger-de Groot AC.

Anat Embryol (Berl). 2001 Mar;203(3):185-92.

PMID:
11303904
37.

Overexpression of components of the Frizzled-Dishevelled cascade results in apoptotic cell death, mediated by beta-catenin.

van Gijn ME, Snel F, Cleutjens JP, Smits JF, Blankesteijn WM.

Exp Cell Res. 2001 Apr 15;265(1):46-53.

PMID:
11281642

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