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X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.
Skinningsrud B, Husebye ES, Gilfillan GD, Frengen E, Erichsen A, Gervin K, Ormerod E, Egeland T, Undlien DE. Skinningsrud B, et al. Among authors: egeland t. J Clin Endocrinol Metab. 2009 Oct;94(10):4086-93. doi: 10.1210/jc.2009-0923. Epub 2009 Sep 22. J Clin Endocrinol Metab. 2009. PMID: 19773398
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Gilfillan GD, et al. Among authors: egeland t. Am J Hum Genet. 2008 Apr;82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013. Epub 2008 Mar 13. Am J Hum Genet. 2008. PMID: 18342287 Free PMC article.
Genome-wide linkage analysis with clustered SNP markers.
Selmer KK, Brandal K, Olstad OK, Birkenes B, Undlien DE, Egeland T. Selmer KK, et al. Among authors: egeland t. J Biomol Screen. 2009 Jan;14(1):92-6. doi: 10.1177/1087057108327327. J Biomol Screen. 2009. PMID: 19171925
A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma.
Bjørnvold M, Munthe-Kaas MC, Egeland T, Joner G, Dahl-Jørgensen K, Njølstad PR, Akselsen HE, Gervin K, Carlsen KC, Carlsen KH, Undlien DE. Bjørnvold M, et al. Among authors: egeland t. Genes Immun. 2009 Mar;10(2):181-7. doi: 10.1038/gene.2008.100. Epub 2009 Jan 15. Genes Immun. 2009. PMID: 19148143
261 results