Schanze D - Search Results

1

Pathogenic PTPN11 variants involving the poly-glutamine Gln²⁵⁵ -Gln²⁵⁶ -Gln²⁵⁷ stretch highlight the relevance of helix B in SHP2's functional regulation.

Martinelli S, Pannone L, Lissewski C, Brinkmann J, Flex E, Schanze D, Calligari P, Anselmi M, Pantaleoni F, Canale VC, Radio FC, Ioannides A, Rahner N, Schanze I, Josifova D, Bocchinfuso G, Ryten M, Stella L, Tartaglia M, Zenker M. Martinelli S, et al. Among authors: schanze d, schanze i. Hum Mutat. 2020 Jun;41(6):1171-1182. doi: 10.1002/humu.24007. Epub 2020 Mar 11. Hum Mutat. 2020. PMID: 32112654

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

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M. Schanze D, et al. Am J Med Genet A. 2013 Dec;161A(12):3012-7. doi: 10.1002/ajmg.a.36119. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24115501

5

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.

6

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

7

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.

8

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

9

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo.

Ivanova D, Dirks A, Montenegro-Venegas C, Schöne C, Altrock WD, Marini C, Frischknecht R, Schanze D, Zenker M, Gundelfinger ED, Fejtova A. Ivanova D, et al. Among authors: schanze d. EMBO J. 2015 Apr 15;34(8):1056-77. doi: 10.15252/embj.201488796. Epub 2015 Feb 4. EMBO J. 2015. PMID: 25652077 Free PMC article.

10

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Lévy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M. Vodopiutz J, et al. Among authors: schanze d. Hum Mutat. 2015 Nov;36(11):1021-8. doi: 10.1002/humu.22828. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26123727 Free PMC article.

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