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Page 1
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, Teulé A, Nathanson KL, Domchek SM, Rebbeck T, Lasa A, Konstantopoulou I, Hogervorst FB, Verhoef S, van Dooren MF, Jager A, Ausems MG, Aalfs CM, van Asperen CJ, Vreeswijk M, Waisfisz Q, Van Roozendaal CE, Ligtenberg MJ; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Curzon B, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Adlard J, Eccles D, Ong KR, Douglas F, Downing S, Brewer C, Walker L, Nevanlinna H, Aittomäki K, Couch FJ, Fredericksen Z, Lindor NM, Godwin A, Isaacs C, Caligo MA, Loman N, Jernström H, Barbany-Bustinza G, Liljegren A, Ehrencrona H, Stenmark-Askmalm M; Sw E-BRCA; Feliubadaló L, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Fortuzzi S, Johannsson OT, Chenevix-Trench G, Chen XC, Beesley J, Spurdle AB; kConFab; Sinilnikova OM, Healey S, McGuffog L, Antoniou AC, Brunet J, Radice P, Benítez J; CIMBA. Osorio A, et al. Among authors: van asperen cj, van dooren mf, van roozendaal ce. Br J Cancer. 2011 Apr 12;104(8):1356-61. doi: 10.1038/bjc.2011.91. Epub 2011 Mar 22. Br J Cancer. 2011. PMID: 21427728 Free PMC article.
Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.
Eijkelenkamp K, Olderode-Berends MJW, van der Luijt RB, Robledo M, van Dooren M, Feelders RA, de Vries J, Kerstens MN, Links TP, van der Horst-Schrivers ANA. Eijkelenkamp K, et al. Clin Genet. 2018 May;93(5):1049-1056. doi: 10.1111/cge.13202. Epub 2018 Mar 23. Clin Genet. 2018. PMID: 29282712
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
de Vree PJ, de Wit E, Yilmaz M, van de Heijning M, Klous P, Verstegen MJ, Wan Y, Teunissen H, Krijger PH, Geeven G, Eijk PP, Sie D, Ylstra B, Hulsman LO, van Dooren MF, van Zutven LJ, van den Ouweland A, Verbeek S, van Dijk KW, Cornelissen M, Das AT, Berkhout B, Sikkema-Raddatz B, van den Berg E, van der Vlies P, Weening D, den Dunnen JT, Matusiak M, Lamkanfi M, Ligtenberg MJ, ter Brugge P, Jonkers J, Foekens JA, Martens JW, van der Luijt R, van Amstel HK, van Min M, Splinter E, de Laat W. de Vree PJ, et al. Among authors: van de heijning m, van zutven lj, van min m, van dooren mf, van dijk kw, van amstel hk, van den berg e, van den ouweland a, van der vlies p, van der luijt r. Nat Biotechnol. 2014 Oct;32(10):1019-25. doi: 10.1038/nbt.2959. Epub 2014 Aug 17. Nat Biotechnol. 2014. PMID: 25129690
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: van esch h, van dooren mf. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free article. Review.
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Goos JA, Fenwick AL, Swagemakers SM, McGowan SJ, Knight SJ, Twigg SR, Hoogeboom AJ, van Dooren MF, Magielsen FJ, Wall SA, Mathijssen IM, Wilkie AO, van der Spek PJ, van den Ouweland AM. Goos JA, et al. Among authors: van der spek pj, van dooren mf, van den ouweland am. Hum Mutat. 2016 Aug;37(8):732-6. doi: 10.1002/humu.23010. Epub 2016 Jun 2. Hum Mutat. 2016. PMID: 27158814 Free PMC article.
The phenotype of SDHB germline mutation carriers: a nationwide study.
Niemeijer ND, Rijken JA, Eijkelenkamp K, van der Horst-Schrivers ANA, Kerstens MN, Tops CMJ, van Berkel A, Timmers HJLM, Kunst HPM, Leemans CR, Bisschop PH, Dreijerink KMA, van Dooren MF, Bayley JP, Pereira AM, Jansen JC, Hes FJ, Hensen EF, Corssmit EPM. Niemeijer ND, et al. Among authors: van der horst schrivers ana, van dooren mf, van berkel a. Eur J Endocrinol. 2017 Aug;177(2):115-125. doi: 10.1530/EJE-17-0074. Epub 2017 May 10. Eur J Endocrinol. 2017. PMID: 28490599
The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers.
Rijken JA, Niemeijer ND, Jonker MA, Eijkelenkamp K, Jansen JC, van Berkel A, Timmers HJLM, Kunst HPM, Bisschop PHLT, Kerstens MN, Dreijerink KMA, van Dooren MF, van der Horst-Schrivers ANA, Hes FJ, Leemans CR, Corssmit EPM, Hensen EF. Rijken JA, et al. Among authors: van der horst schrivers ana, van dooren mf, van berkel a. Clin Genet. 2018 Jan;93(1):60-66. doi: 10.1111/cge.13055. Epub 2017 Sep 6. Clin Genet. 2018. PMID: 28503760
Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.
Rijken JA, Niemeijer ND, Leemans CR, Eijkelenkamp K, van der Horst-Schrivers ANA, van Berkel A, Timmers HJLM, Kunst HPM, Bisschop PHLT, van Dooren MF, Hes FJ, Jansen JC, Corssmit EPM, Hensen EF. Rijken JA, et al. Among authors: van der horst schrivers ana, van dooren mf, van berkel a. BJS Open. 2018 Feb 6;2(2):62-69. doi: 10.1002/bjs5.39. eCollection 2018 Apr. BJS Open. 2018. PMID: 29951630 Free PMC article.
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.
Rijken JA, van Hulsteijn LT, Dekkers OM, Niemeijer ND, Leemans CR, Eijkelenkamp K, van der Horst-Schrivers ANA, Kerstens MN, van Berkel A, Timmers HJLM, Kunst HPM, Bisschop PHLT, Dreijerink KMA, van Dooren MF, Hes FJ, Jansen JC, Corssmit EPM, Hensen EF. Rijken JA, et al. Among authors: van der horst schrivers ana, van dooren mf, van hulsteijn lt, van berkel a. Cancers (Basel). 2019 Jan 17;11(1):103. doi: 10.3390/cancers11010103. Cancers (Basel). 2019. PMID: 30658386 Free PMC article.
65 results