Schanze D - Search Results

1

Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.

Nakhaei-Rad S, Haghighi F, Bazgir F, Dahlmann J, Busley AV, Buchholzer M, Kleemann K, Schänzer A, Borchardt A, Hahn A, Kötter S, Schanze D, Anand R, Funk F, Kronenbitter AV, Scheller J, Piekorz RP, Reichert AS, Volleth M, Wolf MJ, Cirstea IC, Gelb BD, Tartaglia M, Schmitt JP, Krüger M, Kutschka I, Cyganek L, Zenker M, Kensah G, Ahmadian MR. Nakhaei-Rad S, et al. Among authors: schanze d. Commun Biol. 2023 Jun 21;6(1):657. doi: 10.1038/s42003-023-05013-8. Commun Biol. 2023. PMID: 37344639 Free PMC article.

2

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.

Mitter D, Schanze D, Sterker I, Müller D, Till H, Zenker M. Mitter D, et al. Among authors: schanze d. Mol Syndromol. 2012 Sep;3(3):136-139. doi: 10.1159/000341501. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23112756 Free PMC article.

3

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Schanze I, Schanze D, Bacino CA, Douzgou S, Kerr B, Zenker M. Schanze I, et al. Among authors: schanze d. Eur J Med Genet. 2013 Feb;56(2):108-13. doi: 10.1016/j.ejmg.2012.11.001. Epub 2012 Dec 5. Eur J Med Genet. 2013. PMID: 23220431

4

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

Schanze D, Kayserili H, Satkın BN, Altunoglu U, Zenker M. Schanze D, et al. Am J Med Genet A. 2014 Mar;164A(3):837-40. doi: 10.1002/ajmg.a.36343. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357607 No abstract available.

5

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

6

A cryptic unbalanced translocation der(4)t(4;17)(p16.1;q25.3) identifies Wittwer syndrome as a variant of Wolf-Hirschhorn syndrome.

Wieland I, Schanze D, Schanze I, Volleth M, Muschke P, Zenker M. Wieland I, et al. Among authors: schanze d, schanze i. Am J Med Genet A. 2014 Dec;164A(12):3213-4. doi: 10.1002/ajmg.a.36765. Epub 2014 Sep 23. Am J Med Genet A. 2014. PMID: 25251057 No abstract available.

7

Pilot study of association of catechol-O-methyl transferase rs4680 genotypes with acute kidney injury and tubular stress after open heart surgery.

Albert C, Kube J, Haase-Fielitz A, Dittrich A, Schanze D, Zenker M, Kuppe H, Hetzer R, Bellomo R, Mertens PR, Haase M. Albert C, et al. Among authors: schanze d. Biomark Med. 2014;8(10):1227-38. doi: 10.2217/bmm.14.85. Biomark Med. 2014. PMID: 25525983

8

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.

9

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

Chacon-Camacho OF, Zenker M, Schanze D, Ledesma-Gil J, Zenteno JC. Chacon-Camacho OF, et al. Among authors: schanze d. Eur J Med Genet. 2017 Mar;60(3):190-194. doi: 10.1016/j.ejmg.2017.01.005. Epub 2017 Jan 19. Eur J Med Genet. 2017. PMID: 28111185 Review.

10

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.

Altmüller F, Pothula S, Annamneedi A, Nakhaei-Rad S, Montenegro-Venegas C, Pina-Fernández E, Marini C, Santos M, Schanze D, Montag D, Ahmadian MR, Stork O, Zenker M, Fejtova A. Altmüller F, et al. Among authors: schanze d. PLoS Genet. 2017 Mar 27;13(3):e1006684. doi: 10.1371/journal.pgen.1006684. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28346493 Free PMC article.

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