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2010 1
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Page 1
SLC26A1 is a major determinant of sulfate homeostasis in humans.
Pfau A, López-Cayuqueo KI, Scherer N, Wuttke M, Wernstedt A, González Fassrainer D, Smith DE, van de Kamp JM, Ziegeler K, Eckardt KU, Luft FC, Aronson PS, Köttgen A, Jentsch TJ, Knauf F. Pfau A, et al. Among authors: wernstedt a. J Clin Invest. 2023 Feb 1;133(3):e161849. doi: 10.1172/JCI161849. J Clin Invest. 2023. PMID: 36719378 Free PMC article.
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H, Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R, Wimmer K. Schamschula E, et al. Among authors: wernstedt a. Biomolecules. 2022 Sep 22;12(10):1350. doi: 10.3390/biom12101350. Biomolecules. 2022. PMID: 36291559 Free PMC article.
High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.
Pölsler L, Fiegl H, Wimmer K, Oberaigner W, Amberger A, Traunfellner P, Morscher RJ, Weber I, Fauth C, Wernstedt A, Sperner-Unterweger B, Oberguggenberger A, Hubalek M, Marth C, Zschocke J. Pölsler L, et al. Among authors: wernstedt a. Eur J Hum Genet. 2016 Feb;24(2):258-62. doi: 10.1038/ejhg.2015.108. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014432 Free PMC article.
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.
Wernstedt A, Valtorta E, Armelao F, Togni R, Girlando S, Baudis M, Heinimann K, Messiaen L, Staehli N, Zschocke J, Marra G, Wimmer K. Wernstedt A, et al. Genes Chromosomes Cancer. 2012 Sep;51(9):819-31. doi: 10.1002/gcc.21966. Epub 2012 May 14. Genes Chromosomes Cancer. 2012. PMID: 22585707 Free PMC article.
11 results