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The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.
van Steensel M, Smith FJ, Steijlen PM, Kluijt I, Stevens HP, Messenger A, Kremer H, Dunnill MG, Kennedy C, Munro CS, Doherty VR, McGrath JA, Covello SP, Coleman CM, Uitto J, McLean WH. van Steensel M, et al. Among authors: kluijt i. Am J Hum Genet. 1999 Aug;65(2):413-9. doi: 10.1086/302506. Am J Hum Genet. 1999. PMID: 10417283 Free PMC article.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ. Tan-Sindhunata MB, et al. Among authors: kluijt i. Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537362 Free PMC article.
Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, Wagner A, Olderode-Berends M, Sijmons RH, Kuipers EJ, Poley JW, Fockens P, Bruno MJ. Harinck F, et al. Among authors: kluijt i. Eur J Hum Genet. 2012 May;20(5):577-9. doi: 10.1038/ejhg.2011.226. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166947 Free PMC article.
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.
Adank MA, Jonker MA, Kluijt I, van Mil SE, Oldenburg RA, Mooi WJ, Hogervorst FB, van den Ouweland AM, Gille JJ, Schmidt MK, van der Vaart AW, Meijers-Heijboer H, Waisfisz Q. Adank MA, et al. Among authors: kluijt i. J Med Genet. 2011 Dec;48(12):860-3. doi: 10.1136/jmedgenet-2011-100380. Epub 2011 Nov 5. J Med Genet. 2011. PMID: 22058428
An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.
Majewski IJ, Kluijt I, Cats A, Scerri TS, de Jong D, Kluin RJ, Hansford S, Hogervorst FB, Bosma AJ, Hofland I, Winter M, Huntsman D, Jonkers J, Bahlo M, Bernards R. Majewski IJ, et al. Among authors: kluijt i. J Pathol. 2013 Mar;229(4):621-9. doi: 10.1002/path.4152. J Pathol. 2013. PMID: 23208944
42 results