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A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.
Jaeschke H, Schaarschmidt J, Eszlinger M, Huth S, Puttinger R, Rittinger O, Meiler J, Paschke R. Jaeschke H, et al. Among authors: puttinger r. J Clin Endocrinol Metab. 2014 Oct;99(10):E2051-9. doi: 10.1210/jc.2014-1436. Epub 2014 Jun 20. J Clin Endocrinol Metab. 2014. PMID: 24947036
Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.
Grossmann V, Höckner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, Röthlisberger B, Huber A, Wu L, Spreiz A, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Grossmann V, et al. Among authors: puttinger r. Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x. Clin Genet. 2010. PMID: 20584030
Identification of eight novel NSD1 mutations in Sotos syndrome.
Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N. Kamimura J, et al. Among authors: puttinger r. J Med Genet. 2003 Nov;40(11):e126. doi: 10.1136/jmg.40.11.e126. J Med Genet. 2003. PMID: 14627693 Free PMC article. No abstract available.