Schanze I - Search Results

1

Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus.

Vossschulte H, Mohnike K, Mohnike K, Warncke K, Akcay A, Zenker M, Wieland I, Schanze I, Hoefele J, Förster C, Barthlen W, Stahlberg K, Empting S. Vossschulte H, et al. Among authors: schanze i. J Endocr Soc. 2022 Apr 6;6(6):bvac056. doi: 10.1210/jendso/bvac056. eCollection 2022 Jun 1. J Endocr Soc. 2022. PMID: 35475025 Free PMC article.

2

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

3

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

4

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.

5

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Lissewski C, Kant SG, Stark Z, Schanze I, Zenker M. Lissewski C, et al. Among authors: schanze i. Am J Med Genet A. 2015 Nov;167A(11):2685-90. doi: 10.1002/ajmg.a.37155. Epub 2015 May 14. Am J Med Genet A. 2015. PMID: 25974318

6

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.

Karoglan A, Schanze D, Bär C, Muschke P, Zenker M, Schanze I. Karoglan A, et al. Among authors: schanze i. Am J Med Genet A. 2019 May;179(5):832-836. doi: 10.1002/ajmg.a.61093. Epub 2019 Feb 25. Am J Med Genet A. 2019. PMID: 30803155

7

Variants in nuclear factor I genes influence growth and development.

Zenker M, Bunt J, Schanze I, Schanze D, Piper M, Priolo M, Gerkes EH, Gronostajski RM, Richards LJ, Vogt J, Wessels MW, Hennekam RC. Zenker M, et al. Among authors: schanze i. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):611-626. doi: 10.1002/ajmg.c.31747. Epub 2019 Nov 15. Am J Med Genet C Semin Med Genet. 2019. PMID: 31730271 Review.

8

Mosaic Neurofibromatosis Type 1 With Multiple Cutaneous Diffuse and Plexiform Neurofibromas of the Lower Leg.

Friedrich RE, Hagel C, Kohlrusch FK, Schanze I, Wieland I, Zenker M. Friedrich RE, et al. Among authors: schanze i. Anticancer Res. 2020 Jun;40(6):3423-3427. doi: 10.21873/anticanres.14327. Anticancer Res. 2020. PMID: 32487640

9

Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.

Wieland I, Schanze I, Felgendreher IM, Barthlen W, Vogelgesang S, Mohnike K, Zenker M. Wieland I, et al. Among authors: schanze i. Front Endocrinol (Lausanne). 2022 Oct 21;13:1015244. doi: 10.3389/fendo.2022.1015244. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36339418 Free PMC article.

10

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy S, Lebrecht D, Schanze D, Schanze I, Wieland I, Andrieux G, Metzger P, Hess M, Albert MH, Borkhardt A, Bresters D, Buechner J, Catala A, De Haas V, Dworzak M, Erlacher M, Hasle H, Jahnukainen K, Locatelli F, Masetti R, Stary J, Turkiewicz D, Vinci L, Wlodarski MW, Yoshimi A, Boerries M, Niemeyer CM, Zenker M, Flotho C. Ramamoorthy S, et al. Among authors: schanze i. Br J Haematol. 2024 Feb;204(2):595-605. doi: 10.1111/bjh.19190. Epub 2023 Nov 9. Br J Haematol. 2024. PMID: 37945316

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