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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. Kempers MJ, et al. Among authors: van nesselrooij bp, van gijn me, van krieken jh, van kessel ag, van der post rs. Lancet Oncol. 2011 Jan;12(1):49-55. doi: 10.1016/S1470-2045(10)70265-5. Epub 2010 Dec 8. Lancet Oncol. 2011. PMID: 21145788 Free PMC article.
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. van Riel E, et al. Among authors: van gijn me, van echtelt j. Hered Cancer Clin Pract. 2010 Aug 12;8(1):7. doi: 10.1186/1897-4287-8-7. Hered Cancer Clin Pract. 2010. PMID: 20704743 Free PMC article.
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. Kuiper RP, et al. Among authors: van gijn me, van den ouweland am, van krieken jh, van kessel ag. Hum Mutat. 2011 Apr;32(4):407-14. doi: 10.1002/humu.21446. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309036
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.
Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, André-Schmutz I. Lagresle-Peyrou C, et al. J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4. J Allergy Clin Immunol. 2016. PMID: 27405666
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. Van der Flier LG, et al. Among authors: van gijn me, van de wetering m. Gastroenterology. 2007 Feb;132(2):628-32. doi: 10.1053/j.gastro.2006.08.039. Epub 2006 Aug 18. Gastroenterology. 2007. PMID: 17320548
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, Leavis HL, Henriet SSV, van Deuren M, van de Veerdonk FL, Potjewijd J, Berghuis D, Dalm VASH, Vermont CL, van de Ven AAJM, Lambeck AJA, Abbott KM, van Hagen PM, de Bree GJ, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM; Genetics First for Primary Immunodeficiency Disorders Consortium. Elsink K, et al. Among authors: van gijn me. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 Free PMC article.
Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.
van Well GTJ, Kant B, van Nistelrooij A, Sirma Ekmekci S, Henriet SV, Hoppenreijs E, van Deuren M, van Montfrans J, Nierkens S, Gül A, van Gijn ME. van Well GTJ, et al. Among authors: van gijn me, van montfrans j, van nistelrooij a, van deuren m. Clin Exp Rheumatol. 2019 Nov-Dec;37 Suppl 121(6):142-146. Epub 2019 Dec 9. Clin Exp Rheumatol. 2019. PMID: 31856934 Free article.
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A. van der Made CI, et al. Among authors: van de veerdonk fl, van paassen p, van gijn me, van der veken lt, van daele pla. J Allergy Clin Immunol. 2022 Jan;149(1):432-439.e4. doi: 10.1016/j.jaci.2021.05.014. Epub 2021 May 25. J Allergy Clin Immunol. 2022. PMID: 34048852
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. Elstak ED, et al. Among authors: van der sluijs p, van gijn me, van de corput l, van kerkhof p. Pediatr Blood Cancer. 2012 Apr;58(4):598-605. doi: 10.1002/pbc.23253. Epub 2011 Jul 13. Pediatr Blood Cancer. 2012. PMID: 21755595
83 results