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Items: 15

1.

Patients with High-Grade Gliomas and Café-au-Lait Macules: Is Neurofibromatosis Type 1 the Only Diagnosis?

Guerrini-Rousseau L, Suerink M, Grill J, Legius E, Wimmer K, Brugières L.

AJNR Am J Neuroradiol. 2019 May 9. doi: 10.3174/ajnr.A6058. [Epub ahead of print] No abstract available.

PMID:
31072978
2.

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.

Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M.

Cancer Epidemiol Biomarkers Prev. 2019 Mar 1. doi: 10.1158/1055-9965.EPI-18-0576. [Epub ahead of print]

PMID:
30824524
3.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K.

Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6.

PMID:
30740824
4.

Correction: Putting genome-wide sequencing in neonates into perspective.

van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE.

Genet Med. 2018 Nov 21. doi: 10.1038/s41436-018-0363-3. [Epub ahead of print]

PMID:
30464259
5.

Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.

Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K.

J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10.

PMID:
30415209
6.

Putting genome-wide sequencing in neonates into perspective.

van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE.

Genet Med. 2019 May;21(5):1074-1082. doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5. Erratum in: Genet Med. 2018 Nov 21;:.

PMID:
30287924
7.

Cancer Risks for PMS2-Associated Lynch Syndrome.

Ten Broeke SW, van der Klift HM, Tops CMJ, Aretz S, Bernstein I, Buchanan DD, de la Chapelle A, Capella G, Clendenning M, Engel C, Gallinger S, Gomez Garcia E, Figueiredo JC, Haile R, Hampel HL, Hopper JL, Hoogerbrugge N, von Knebel Doeberitz M, Le Marchand L, Letteboer TGW, Jenkins MA, Lindblom A, Lindor NM, Mensenkamp AR, Møller P, Newcomb PA, van Os TAM, Pearlman R, Pineda M, Rahner N, Redeker EJW, Olderode-Berends MJW, Rosty C, Schackert HK, Scott R, Senter L, Spruijt L, Steinke-Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK.

J Clin Oncol. 2018 Oct 10;36(29):2961-2968. doi: 10.1200/JCO.2018.78.4777. Epub 2018 Aug 30. Erratum in: J Clin Oncol. 2019 Mar 20;37(9):761.

8.

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Tesch VK, IJspeert H, Raicht A, Rueda D, Dominguez-Pinilla N, Allende LM, Colas C, Rosenbaum T, Ilencikova D, Baris HN, Nathrath MHM, Suerink M, Januszkiewicz-Lewandowska D, Ragab I, Azizi AA, Wenzel SS, Zschocke J, Schwinger W, Kloor M, Blattmann C, Brugieres L, van der Burg M, Wimmer K, Seidel MG.

Front Immunol. 2018 Jul 2;9:1506. doi: 10.3389/fimmu.2018.01506. eCollection 2018.

9.

Response to Roberts et al. 2018: is breast cancer truly caused by MSH6 and PMS2 variants or is it simply due to a high prevalence of these variants in the population?

Ten Broeke SW, Suerink M, Nielsen M.

Genet Med. 2019 Jan;21(1):256-257. doi: 10.1038/s41436-018-0029-1. Epub 2018 May 24. No abstract available.

PMID:
29795439
10.

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2.

Ten Broeke SW, van Bavel TC, Jansen AML, Gómez-García E, Hes FJ, van Hest LP, Letteboer TGW, Olderode-Berends MJW, Ruano D, Spruijt L, Suerink M, Tops CM, van Eijk R, Morreau H, van Wezel T, Nielsen M.

Gastroenterology. 2018 Sep;155(3):844-851. doi: 10.1053/j.gastro.2018.05.020. Epub 2018 Jul 29.

PMID:
29758216
11.

Findings Linking Mismatch Repair Mutation With Age at Endometrial and Ovarian Cancer Onset in Lynch Syndrome.

Suerink M, Ten Broeke SW, Nielsen M.

JAMA Oncol. 2018 Jun 1;4(6):889-890. doi: 10.1001/jamaoncol.2018.0256. No abstract available.

PMID:
29621391
12.

SNP association study in PMS2-associated Lynch syndrome.

Ten Broeke SW, Elsayed FA, Pagan L, Olderode-Berends MJW, Garcia EG, Gille HJP, van Hest LP, Letteboer TGW, van der Kolk LE, Mensenkamp AR, van Os TA, Spruijt L, Redeker BJW, Suerink M, Vos YJ, Wagner A, Wijnen JT, Steyerberg EW, Tops CMJ, van Wezel T, Nielsen M.

Fam Cancer. 2018 Oct;17(4):507-515. doi: 10.1007/s10689-017-0061-3.

13.

Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Suerink M, Potjer TP, Versluijs AB, Ten Broeke SW, Tops CM, Wimmer K, Nielsen M.

Clin Genet. 2018 Jan;93(1):134-137. doi: 10.1111/cge.13053. Epub 2017 Sep 15.

PMID:
28503822
14.

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

Suerink M, van der Klift HM, Ten Broeke SW, Dekkers OM, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp A, Moller P, van Os TA, Rahner N, Redeker BJ, Olderode-Berends MJ, Spruijt L, Vos YJ, Wagner A, Morreau H, Hes FJ, Vasen HF, Tops CM, Wijnen JT, Nielsen M.

Genet Med. 2016 Apr;18(4):405-9. doi: 10.1038/gim.2015.83. Epub 2015 Jun 25. Erratum in: Genet Med. 2016 Jan;18(1):108. Olderode, Maran [corrected to Olderode-Berends, M J W].

PMID:
26110232
15.

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M, Wijnen JT.

J Clin Oncol. 2015 Feb 1;33(4):319-25. doi: 10.1200/JCO.2014.57.8088. Epub 2014 Dec 15.

PMID:
25512458

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