Thiel CT - Search Results

1

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.

Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, Schauer C, Ringer M, Flamann C, Frey B, Lesner A, Thiel CT, Ekici AB, von Hörsten S, Aßmann G, Riepe C, Euler M, Schäkel K, Philipp S, Prinz JC, Mößner R, Kersting F, Sticherling M, Sefiani A, Lyahyai J, Sondermann W, Oji V, Schulz P, Wilsmann-Theis D, Sticht H, Schett G, Reis A, Uebe S, Frey S, Hüffmeier U. Haskamp S, et al. Among authors: thiel ct. Am J Hum Genet. 2020 Sep 3;107(3):527-538. doi: 10.1016/j.ajhg.2020.07.001. Epub 2020 Aug 5. Am J Hum Genet. 2020. PMID: 32758447 Free PMC article.

2

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A. Thiel CT, et al. Am J Hum Genet. 2005 Nov;77(5):795-806. doi: 10.1086/497708. Epub 2005 Sep 29. Am J Hum Genet. 2005. PMID: 16252239 Free PMC article.

3

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.

Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel CT, Reis A, Popp B. Hebebrand M, et al. Among authors: thiel ct. Am J Med Genet A. 2019 Jan;179(1):50-56. doi: 10.1002/ajmg.a.60679. Epub 2018 Dec 11. Am J Med Genet A. 2019. PMID: 30548383

4

Clinical and molecular delineation of spondylocostal dysostosis type 3.

Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, Reis A, Thiel CT. Schuhmann S, et al. Among authors: thiel ct. Clin Genet. 2021 Jun;99(6):851-852. doi: 10.1111/cge.13952. Epub 2021 Mar 16. Clin Genet. 2021. PMID: 33728697 No abstract available.

5

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.

Kraus C, Uebe S, Thiel CT, Ekici AB, Reis A, Zweier C. Kraus C, et al. Among authors: thiel ct. Am J Med Genet A. 2018 Dec;176(12):2872-2876. doi: 10.1002/ajmg.a.40640. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450806 Review.

6

A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2.

Hetzelt KLML, Kraus C, Kusnik S, Thiel CT, Uebe S, Ekici AB, Trollmann R, Reis A, Zweier C. Hetzelt KLML, et al. Among authors: thiel ct. Eur J Med Genet. 2020 Sep;63(9):103998. doi: 10.1016/j.ejmg.2020.103998. Epub 2020 Jul 2. Eur J Med Genet. 2020. PMID: 32622959

7

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

8

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum.

Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Thiel CT, et al. Am J Hum Genet. 2007 Sep;81(3):519-29. doi: 10.1086/521034. Epub 2007 Aug 6. Am J Hum Genet. 2007. PMID: 17701897 Free PMC article.

9

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. Among authors: thiel ct. PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516380 Free PMC article.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

71 results

Search Page