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Results: 1 to 20 of 39

1.

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Bauters M, Frints SG, Van Esch H, Spruijt L, Baldewijns MM, Die-Smulders CE, Fryns JP, Marynen P, Froyen G.

Am J Med Genet A. 2014 Aug;164(8):1947-52. doi: 10.1002/ajmg.a.36580. Epub 2014 Apr 15.

PMID:
24737742
[PubMed - in process]
2.

Hypertrophic Left Calf and Multiple Flesh-coloured Subcutaneous Tumours in a 5-year-old Girl: A Quiz.

van Geel MJ, Wijnen M, Hoppenreijs EP, Gierenz N, Spruijt L, Koolwijk MP, Flucke U, Blokx WA, Seyger MM.

Acta Derm Venereol. 2014 Feb 14. doi: 10.2340/00015555-1779. [Epub ahead of print]

PMID:
24531373
[PubMed - as supplied by publisher]
Free Article
3.

NR2F1 mutations cause optic atrophy with intellectual disability.

Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA; Baylor-Hopkins Center for Mendelian Genomics, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP.

Am J Hum Genet. 2014 Feb 6;94(2):303-9. doi: 10.1016/j.ajhg.2014.01.002. Epub 2014 Jan 23.

PMID:
24462372
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR.

Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18.

PMID:
24123792
[PubMed - indexed for MEDLINE]
5.

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling.

Sie AS, van Zelst-Stams WA, Spruijt L, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N.

Fam Cancer. 2014 Jun;13(2):143-51. doi: 10.1007/s10689-013-9686-z.

PMID:
24068317
[PubMed - in process]
6.

Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.

Arts-de Jong M, Manders CM, Hoogerbrugge N, Ligtenberg MJ, Massuger LF, de Hullu JA, Spruijt L.

Int J Gynecol Cancer. 2013 Oct;23(8):1406-10. doi: 10.1097/IGC.0b013e3182a1cf71.

PMID:
23975082
[PubMed - indexed for MEDLINE]
7.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

de Voer RM, Geurts van Kessel A, Weren RD, Ligtenberg MJ, Smeets D, Fu L, Vreede L, Kamping EJ, Verwiel ET, Hahn MM, Ariaans M, Spruijt L, van Essen T, Houge G, Schackert HK, Sheng JQ, Venselaar H, van Ravenswaaij-Arts CM, van Krieken JH, Hoogerbrugge N, Kuiper RP.

Gastroenterology. 2013 Sep;145(3):544-7. doi: 10.1053/j.gastro.2013.06.001. Epub 2013 Jun 5.

PMID:
23747338
[PubMed - indexed for MEDLINE]
8.

Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes.

Sie AS, Prins JB, Spruijt L, Kets CM, Hoogerbrugge N.

Fam Cancer. 2013 Dec;12(4):675-82. doi: 10.1007/s10689-013-9644-9.

PMID:
23604858
[PubMed - indexed for MEDLINE]
9.

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct.

Sie AS, Spruijt L, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N.

BMC Womens Health. 2012 May 8;12:12. doi: 10.1186/1472-6874-12-12.

PMID:
22569005
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors.

Rahner N, Brockschmidt FF, Steinke V, Kahl P, Becker T, Vasen HF, Wijnen JT, Tops CJ, Holinski-Feder E, Ligtenberg MJ, Spruijt L, Görgens H, Stemmler S, Kloor M, Dietmaier W; Dutch Cancer Genetics Group, Schumacher J, Nöthen MM, Propping P.

Fam Cancer. 2012 Mar;11(1):19-26. doi: 10.1007/s10689-011-9489-z.

PMID:
22086303
[PubMed - indexed for MEDLINE]
11.

Clinical phenotype of 5 females with a CDKL5 mutation.

Stalpers XL, Spruijt L, Yntema HG, Verrips A.

J Child Neurol. 2012 Jan;27(1):90-3. doi: 10.1177/0883073811413832. Epub 2011 Jul 15.

PMID:
21765152
[PubMed - indexed for MEDLINE]
12.

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.

Lammens CR, Bleiker EM, Verhoef S, Ausems MG, Majoor-Krakauer D, Sijmons RH, Hes FJ, Gómez-García EB, Van Os TA, Spruijt L, van der Luijt RB, van den Ouweland AM, Ruijs MW, Gundy C, Nagtegaal T, Aaronson NK.

Psychooncology. 2011 Jun;20(6):631-8. doi: 10.1002/pon.1951. Epub 2011 Mar 7.

PMID:
21384469
[PubMed - indexed for MEDLINE]
13.

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.

Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R.

J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4.

PMID:
21378380
[PubMed - indexed for MEDLINE]
14.

Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome.

Manders P, Spruijt L, Kets CM, Willems HW, Bodmer D, Hebeda KM, Nagtegaal ID, van Krieken JH, Ligtenberg MJ, Hoogerbrugge N.

Eur J Cancer. 2011 Jun;47(9):1407-13. doi: 10.1016/j.ejca.2010.12.024. Epub 2011 Jan 25.

PMID:
21273057
[PubMed - indexed for MEDLINE]
Free Article
15.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG.

Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004.

PMID:
20817137
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits.

Lammens CR, Bleiker EM, Aaronson NK, Wagner A, Sijmons RH, Ausems MG, Vriends AH, Ruijs MW, van Os TA, Spruijt L, Gómez García EB, Cats A, Nagtegaal T, Verhoef S.

Fam Cancer. 2010 Dec;9(4):647-54. doi: 10.1007/s10689-010-9368-z.

PMID:
20658357
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences.

Lammens CR, Aaronson NK, Wagner A, Sijmons RH, Ausems MG, Vriends AH, Ruijs MW, van Os TA, Spruijt L, Gómez García EB, Kluijt I, Nagtegaal T, Verhoef S, Bleiker EM.

J Clin Oncol. 2010 Jun 20;28(18):3008-14. doi: 10.1200/JCO.2009.27.2112. Epub 2010 May 17.

PMID:
20479422
[PubMed - indexed for MEDLINE]
18.

Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.

Korsten A, de Coo IF, Spruijt L, de Wit LE, Smeets HJ, Sluiter W.

Biochim Biophys Acta. 2010 Feb;1797(2):197-203. doi: 10.1016/j.bbabio.2009.10.003. Epub 2009 Oct 15.

PMID:
19836344
[PubMed - indexed for MEDLINE]
Free Article
19.

Attitude towards pre-implantation genetic diagnosis for hereditary cancer.

Lammens C, Bleiker E, Aaronson N, Vriends A, Ausems M, Jansweijer M, Wagner A, Sijmons R, van den Ouweland A, van der Luijt R, Spruijt L, Gómez García E, Ruijs M, Verhoef S.

Fam Cancer. 2009;8(4):457-64. doi: 10.1007/s10689-009-9265-5. Epub 2009 Jul 30.

PMID:
19642022
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Two neonates with congenital aniridia: the necessity of genetic investigation].

van Os E, Niemarkt HJ, Verreussel MJ, Cruysberg JR, Bok LA, Spruijt L.

Ned Tijdschr Geneeskd. 2008 Mar 8;152(10):569-73. Dutch.

PMID:
18402324
[PubMed - indexed for MEDLINE]

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