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Page 1
Molecular neonatal screening for homocystinuria in the Qatari population.
Zschocke J, Kebbewar M, Gan-Schreier H, Fischer C, Fang-Hoffmann J, Wilrich J, Abdoh G, Ben-Omran T, Shahbek N, Lindner M, Al Rifai H, Al Khal AL, Hoffmann GF. Zschocke J, et al. Hum Mutat. 2009 Jun;30(6):1021-2. doi: 10.1002/humu.20994. Hum Mutat. 2009. PMID: 19370759
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Schossig A, et al. Among authors: zschocke j. Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22424600 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. Among authors: zschocke j. 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.
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nyström M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K. Baas AF, et al. Among authors: zschocke j. Eur J Hum Genet. 2013 Jan;21(1):55-61. doi: 10.1038/ejhg.2012.117. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692065 Free PMC article.
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. Tucci A, et al. Among authors: zschocke j. Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27. Hum Mutat. 2013. PMID: 23086778 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: zschocke j. 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.
350 results