Kraus C - Search Results

1

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):1755-1768. doi: 10.1007/s00109-021-02124-9. Epub 2021 Sep 18. J Mol Med (Berl). 2021. PMID: 34536092 Free PMC article. Review.

2

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.

Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A. Rauch A, et al. Among authors: kraus c. Am J Med Genet. 2001 Apr 1;99(4):338-42. doi: 10.1002/ajmg.1203. Am J Med Genet. 2001. PMID: 11252005

3

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

4

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

5

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.

6

Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse.

Mannan AU, Roussa E, Kraus C, Rickmann M, Maenner J, Nayernia K, Krieglstein K, Reis A, Engel W. Mannan AU, et al. Among authors: kraus c. Neurogenetics. 2004 Dec;5(4):229-38. doi: 10.1007/s10048-004-0197-9. Epub 2004 Oct 22. Neurogenetics. 2004. PMID: 15503243

7

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

8

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.

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

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

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