Zahnleiter D - Search Results

1

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.

Zahnleiter D, Trautmann U, Ekici AB, Goehring I, Reis A, Dörr HG, Rauch A, Thiel CT. Zahnleiter D, et al. Eur J Med Genet. 2011 Sep-Oct;54(5):e521-4. doi: 10.1016/j.ejmg.2011.06.007. Epub 2011 Jul 12. Eur J Med Genet. 2011. PMID: 21777705

2

Rare copy number variants are a common cause of short stature.

Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT. Zahnleiter D, et al. PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516380 Free PMC article.

3

NEK1 mutations cause short-rib polydactyly syndrome type majewski.

Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A. Thiel C, et al. Among authors: zahnleiter d. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. Am J Hum Genet. 2011. PMID: 21211617 Free PMC article.

4

MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation.

Zahnleiter D, Hauer NN, Kessler K, Uebe S, Sugano Y, Neuhauss SC, Giessl A, Ekici AB, Blessing H, Sticht H, Dörr HG, Reis A, Thiel CT. Zahnleiter D, et al. Hum Mutat. 2015 Jan;36(1):87-97. doi: 10.1002/humu.22711. Epub 2014 Nov 28. Hum Mutat. 2015. PMID: 25323976

5

Mutations in CDK5RAP2 cause Seckel syndrome.

Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, Rosser E, Bögershausen N, Uyguner ZO, Altunoglu U, Nürnberg G, Nürnberg P, Rauch A, Li Y, Thiel CT, Wollnik B. Yigit G, et al. Among authors: zahnleiter d. Mol Genet Genomic Med. 2015 Sep;3(5):467-80. doi: 10.1002/mgg3.158. Epub 2015 May 24. Mol Genet Genomic Med. 2015. PMID: 26436113 Free PMC article.

6

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P. Birtel J, et al. Among authors: zahnleiter d. PLoS One. 2018 Dec 13;13(12):e0207958. doi: 10.1371/journal.pone.0207958. eCollection 2018. PLoS One. 2018. PMID: 30543658 Free PMC article.

7

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Birtel J, et al. Among authors: zahnleiter d. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0. Sci Rep. 2018. PMID: 29555955 Free PMC article.

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