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A de novo paradigm for mental retardation.
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. Vissers LE, et al. Among authors: brunner hg. Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14. Nat Genet. 2010. PMID: 21076407
Presymptomatic diagnosis of myotonic dystrophy.
Brunner HG, Nillesen W, van Oost BA, Jansen G, Wieringa B, Ropers HH, Smeets HJ. Brunner HG, et al. J Med Genet. 1992 Nov;29(11):780-4. doi: 10.1136/jmg.29.11.780. J Med Genet. 1992. PMID: 1453426 Free PMC article.
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
Lemmink HH, Kluijtmans LA, Brunner HG, Schröder CH, Knebelmann B, Jelínková E, van Oost BA, Monnens LA, Smeets HJ. Lemmink HH, et al. Among authors: brunner hg. Hum Mol Genet. 1994 Feb;3(2):317-22. doi: 10.1093/hmg/3.2.317. Hum Mol Genet. 1994. PMID: 8004101
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP. de Kok YJ, et al. Among authors: brunner hg. Hum Mol Genet. 1999 Feb;8(2):361-6. doi: 10.1093/hmg/8.2.361. Hum Mol Genet. 1999. PMID: 9931344
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Maugeri A, et al. Among authors: brunner hg. Am J Hum Genet. 1999 Apr;64(4):1024-35. doi: 10.1086/302323. Am J Hum Genet. 1999. PMID: 10090887 Free PMC article.
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.
Ligtenberg MJ, Hogervorst FB, Willems HW, Arts PJ, Brink G, Hageman S, Bosgoed EA, Van der Looij E, Rookus MA, Devilee P, Vos EM, Wigbout G, Struycken PM, Menko FH, Rutgers EJ, Hoefsloot EH, Mariman EC, Brunner HG, Van 't Veer LJ. Ligtenberg MJ, et al. Among authors: brunner hg. Br J Cancer. 1999 Mar;79(9-10):1475-8. doi: 10.1038/sj.bjc.6690235. Br J Cancer. 1999. PMID: 10188893 Free PMC article.
493 results