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Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome.
Zepeda-Romero LC, Zenker M, Schanze D, Schanze I, Peña-Padilla C, Quezada-Salazar CA, Pacheco-Torres PA, Rivera-Montellano ML, Aguirre-Guillén RL, Bobadilla-Morales L, Corona-Rivera A, Corona-Rivera JR. Zepeda-Romero LC, et al. Among authors: schanze i. Eur J Med Genet. 2022 Dec;65(12):104653. doi: 10.1016/j.ejmg.2022.104653. Epub 2022 Oct 28. Eur J Med Genet. 2022. PMID: 36330903
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M. Schanze D, et al. Among authors: schanze i. Hum Mutat. 2014 Sep;35(9):1092-100. doi: 10.1002/humu.22603. Epub 2014 Jul 8. Hum Mutat. 2014. PMID: 24924640
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S. Srivastava S, et al. Among authors: schanze i. Eur J Hum Genet. 2016 Apr;24(4):556-61. doi: 10.1038/ejhg.2015.151. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153216 Free PMC article.
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.
Hochstenbach R, Nowakowska B, Volleth M, Ummels A, Kutkowska-Kaźmierczak A, Obersztyn E, Ziemkiewicz K, Gerloff C, Schanze D, Zenker M, Muschke P, Schanze I, Poot M, Liehr T. Hochstenbach R, et al. Among authors: schanze d, schanze i. Mol Syndromol. 2016 Feb;6(5):210-21. doi: 10.1159/000441408. Epub 2015 Oct 31. Mol Syndromol. 2016. PMID: 26997941 Free PMC article.
Genotype and phenotype spectrum of NRAS germline variants.
Altmüller F, Lissewski C, Bertola D, Flex E, Stark Z, Spranger S, Baynam G, Buscarilli M, Dyack S, Gillis J, Yntema HG, Pantaleoni F, van Loon RL, MacKay S, Mina K, Schanze I, Tan TY, Walsh M, White SM, Niewisch MR, García-Miñaúr S, Plaza D, Ahmadian MR, Cavé H, Tartaglia M, Zenker M. Altmüller F, et al. Among authors: schanze i. Eur J Hum Genet. 2017 Jun;25(7):823-831. doi: 10.1038/ejhg.2017.65. Epub 2017 May 3. Eur J Hum Genet. 2017. PMID: 28594414 Free PMC article.
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Sukalo M, Schäflein E, Schanze I, Everman DB, Rezaei N, Argente J, Lorda-Sanchez I, Deshpande C, Takahashi T, Kleger A, Zenker M. Sukalo M, et al. Among authors: schanze i. Mol Genet Genomic Med. 2017 Nov;5(6):774-780. doi: 10.1002/mgg3.319. Epub 2017 Jul 31. Mol Genet Genomic Med. 2017. PMID: 29178640 Free PMC article.
27 results