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De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K. Becker K, et al. Among authors: schrock e. Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Eur J Med Genet. 2012. PMID: 22561202 Review.
Clonal evolution including partial loss of human leukocyte antigen genes favoring extramedullary acute myeloid leukemia relapse after matched related allogeneic hematopoietic stem cell transplantation.
Stölzel F, Hackmann K, Kuithan F, Mohr B, Füssel M, Oelschlägel U, Thiede C, Röllig C, Platzbecker U, Schetelig J, Illmer T, Schaich M, Seliger B, Hartmann A, Baretton G, Zietz C, Ehninger G, Schrock E, Bornhäuser M. Stölzel F, et al. Among authors: schrock e. Transplantation. 2012 Apr 15;93(7):744-9. doi: 10.1097/TP.0b013e3182481113. Transplantation. 2012. PMID: 22314337
A further patient with van Maldergem syndrome.
Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N. Neuhann TM, et al. Among authors: schrock e. Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13. Eur J Med Genet. 2012. PMID: 22469822
Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.
Hackmann K, Matko S, Gerlach EM, von der Hagen M, Klink B, Schrock E, Rump A, Di Donato N. Hackmann K, et al. Among authors: schrock e. Eur J Hum Genet. 2013 Jan;21(1):112-4. doi: 10.1038/ejhg.2012.97. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669415 Free PMC article.
224 results