Thiel CT - Search Results

1

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Zweier C, et al. Among authors: thiel ct. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. Eur J Med Genet. 2005. PMID: 16053902

2

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A. Thiel CT, et al. Eur J Hum Genet. 2003 Feb;11(2):170-8. doi: 10.1038/sj.ejhg.5200920. Eur J Hum Genet. 2003. PMID: 12634865

3

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.

Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A. Hoyer J, et al. Among authors: thiel ct. J Med Genet. 2007 Oct;44(10):629-36. doi: 10.1136/jmg.2007.050914. Epub 2007 Jun 29. J Med Genet. 2007. PMID: 17601928 Free PMC article.

4

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome.

Thiel CT, Knebel B, Knerr I, Sticht H, Müller-Wieland D, Zenker M, Reis A, Dörr HG, Rauch A. Thiel CT, et al. Mol Genet Metab. 2008 Jul;94(3):356-62. doi: 10.1016/j.ymgme.2008.02.013. Epub 2008 Apr 14. Mol Genet Metab. 2008. PMID: 18411068

5

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.

Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A. Thiel CT, et al. Eur J Med Genet. 2008 Jul-Aug;51(4):362-7. doi: 10.1016/j.ejmg.2008.03.001. Epub 2008 Mar 20. Eur J Med Genet. 2008. PMID: 18434272

6

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT, Rauch A. Thiel CT, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):131-42. doi: 10.1016/j.beem.2010.08.004. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396580 Review.

7

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. Among authors: thiel ct. 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

8

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, van Haeringen A, Thiel CT, Ekici AB, Reis A, Rauch A. Hofmann K, et al. Among authors: thiel ct. Am J Med Genet A. 2013 Nov;161A(11):2880-9. doi: 10.1002/ajmg.a.36250. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124006

9

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

Popp B, Trollmann R, Büttner C, Caliebe A, Thiel CT, Hüffmeier U, Reis A, Zweier C. Popp B, et al. Among authors: thiel ct. Eur J Med Genet. 2016 Oct;59(10):549-53. doi: 10.1016/j.ejmg.2016.09.002. Epub 2016 Sep 7. Eur J Med Genet. 2016. PMID: 27613244

10

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel CT, Reis A, Zweier C. Graul-Neumann LM, et al. Among authors: thiel ct. Eur J Med Genet. 2018 Jul;61(7):363-368. doi: 10.1016/j.ejmg.2018.01.016. Epub 2018 Jan 31. Eur J Med Genet. 2018. PMID: 29407414

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