Kraus C - Search Results

1

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Averdunk L, Sticht H, Surowy H, Lüdecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, Alzaidan H, Alawam BS, Tohary M, Kraus C, Endele S, Wadman E, Kaplan JD, Efthymiou S, Najmabadi H, Reis A, Alkuraya FS, Wieczorek D. Averdunk L, et al. Among authors: kraus c. J Mol Med (Berl). 2021 Dec;99(12):1769-1770. doi: 10.1007/s00109-021-02153-4. J Mol Med (Berl). 2021. PMID: 34661688 Free PMC article. No abstract available.

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. 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

3

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.

4

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

5

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

6

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

7

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.

Gregor A, Krumbiegel M, Kraus C, Reis A, Zweier C. Gregor A, et al. Among authors: kraus c. Am J Med Genet A. 2012 Jul;158A(7):1765-70. doi: 10.1002/ajmg.a.35427. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678764

8

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D. Zweier C, et al. Among authors: kraus c. J Med Genet. 2013 Dec;50(12):838-47. doi: 10.1136/jmedgenet-2013-101918. Epub 2013 Oct 3. J Med Genet. 2013. PMID: 24092917

9

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

Kraus C, Hoyer J, Vasileiou G, Wunderle M, Lux MP, Fasching PA, Krumbiegel M, Uebe S, Reuter M, Beckmann MW, Reis A. Kraus C, et al. Int J Cancer. 2017 Jan 1;140(1):95-102. doi: 10.1002/ijc.30428. Epub 2016 Sep 23. Int J Cancer. 2017. PMID: 27616075

10

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.

Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel CT. Hauer NN, et al. Among authors: kraus c. Sci Rep. 2017 Sep 22;7(1):12225. doi: 10.1038/s41598-017-12465-6. Sci Rep. 2017. PMID: 28939912 Free PMC article.

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