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PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Beddow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk PS, Guebre-Egziabher F, Sartelet H, Coutton C. Le Tanno P, et al. Among authors: hackmann k. J Med Genet. 2017 Jul;54(7):502-510. doi: 10.1136/jmedgenet-2016-104435. Epub 2017 Mar 7. J Med Genet. 2017. PMID: 28270404
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: hackmann k. 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
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: hackmann k. 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.
Novel truncating PPM1D mutation in a patient with intellectual disability.
Porrmann J, Rump A, Hackmann K, Di Donato N, Kahlert AK, Wagner J, Jahn A, Eger I, Flury M, Schrock E, Tzschach A, Gieldon L. Porrmann J, et al. Among authors: hackmann k. Eur J Med Genet. 2019 Jan;62(1):70-72. doi: 10.1016/j.ejmg.2018.05.006. Epub 2018 May 11. Eur J Med Genet. 2019. PMID: 29758292
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: hackmann k. PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018. PLoS One. 2018. PMID: 30091983 Free PMC article.
77 results