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309 results

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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P. Njajou OT, et al. Among authors: breuning mh. Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038. Nat Genet. 2001. PMID: 11431687
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
de Snoo FA, Hottenga JJ, Gillanders EM, Sandkuijl LA, Jones MP, Bergman W, van der Drift C, van Leeuwen I, van Mourik L, Huurne JA, Frants RR, Willemze R, Breuning MH, Trent JM, Gruis NA. de Snoo FA, et al. Among authors: breuning mh. Eur J Hum Genet. 2008 Sep;16(9):1135-41. doi: 10.1038/ejhg.2008.72. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398432
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ. Veldhuisen B, et al. Among authors: breuning mh. Am J Hum Genet. 1997 Sep;61(3):547-55. doi: 10.1086/515497. Am J Hum Genet. 1997. PMID: 9326320 Free PMC article.
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ. Sun Y, et al. Among authors: breuning mh. Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23418007
Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.
Smit DL, Mensenkamp AR, Badeloe S, Breuning MH, Simon ME, van Spaendonck KY, Aalfs CM, Post JG, Shanley S, Krapels IP, Hoefsloot LH, van Moorselaar RJ, Starink TM, Bayley JP, Frank J, van Steensel MA, Menko FH. Smit DL, et al. Among authors: breuning mh. Clin Genet. 2011 Jan;79(1):49-59. doi: 10.1111/j.1399-0004.2010.01486.x. Clin Genet. 2011. PMID: 20618355
309 results