Kraus C - Search Results

1

BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients.

Wunderle M, Gass P, Häberle L, Flesch VM, Rauh C, Bani MR, Hack CC, Schrauder MG, Jud SM, Emons J, Erber R, Ekici AB, Hoyer J, Vasileiou G, Kraus C, Reis A, Hartmann A, Lux MP, Beckmann MW, Fasching PA, Hein A. Wunderle M, et al. Among authors: kraus c. Breast Cancer Res Treat. 2018 Aug;171(1):85-94. doi: 10.1007/s10549-018-4797-8. Epub 2018 May 3. Breast Cancer Res Treat. 2018. PMID: 29725888

2

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW. Huehne K, et al. Among authors: kraus c. Hum Mutat. 2003 Jan;21(1):100. doi: 10.1002/humu.9101. Hum Mutat. 2003. PMID: 12497641

3

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. Among authors: kraus c. Eur J Hum Genet. 2003 Feb;11(2):170-8. doi: 10.1038/sj.ejhg.5200920. Eur J Hum Genet. 2003. PMID: 12634865

4

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.

Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A. Zenker M, et al. Among authors: kraus c. Am J Hum Genet. 2004 Apr;74(4):731-7. doi: 10.1086/383094. Epub 2004 Feb 25. Am J Hum Genet. 2004. PMID: 14988809 Free PMC article.

5

Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).

Zenker M, Wermuth B, Trautmann U, Knerr I, Kraus C, Rauch A, Reis A. Zenker M, et al. Among authors: kraus c. Am J Med Genet A. 2005 Jan 15;132A(2):185-8. doi: 10.1002/ajmg.a.30414. Am J Med Genet A. 2005. PMID: 15578616

6

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U. Rauch A, et al. Among authors: kraus c. Am J Med Genet A. 2006 Oct 1;140(19):2063-74. doi: 10.1002/ajmg.a.31416. Am J Med Genet A. 2006. PMID: 16917849

7

Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.

Kraus C, Reis A, Naehrlich L, Dötsch J, Korbmacher C, Rauh R. Kraus C, et al. Cell Physiol Biochem. 2007;19(5-6):239-48. doi: 10.1159/000100643. Cell Physiol Biochem. 2007. PMID: 17495464 Free article.

8

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: kraus c. 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.

9

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. Among authors: kraus c. 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

10

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.

Hoyer J, Kraus C, Hammersen G, Geppert JP, Rauch A. Hoyer J, et al. Among authors: kraus c. Clin Genet. 2009 Sep;76(3):276-81. doi: 10.1111/j.1399-0004.2009.01204.x. Epub 2009 Aug 3. Clin Genet. 2009. PMID: 19664000

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

634 results

Search Page

Filters