Kauferstein S - Search Results

1

Characterization of an N-terminal Na_v1.5 channel variant - a potential risk factor for arrhythmias and sudden death?

Scheiper-Welling S, Zuccolini P, Rauh O, Beckmann BM, Geisen C, Moroni A, Thiel G, Kauferstein S. Scheiper-Welling S, et al. Among authors: kauferstein s. BMC Med Genet. 2020 Nov 19;21(1):227. doi: 10.1186/s12881-020-01170-3. BMC Med Genet. 2020. PMID: 33213388 Free PMC article.

2

Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death?

Kiehne N, Kauferstein S. Kiehne N, et al. Among authors: kauferstein s. Forensic Sci Int Genet. 2007 Jun;1(2):170-4. doi: 10.1016/j.fsigen.2007.01.009. Epub 2007 Feb 26. Forensic Sci Int Genet. 2007. PMID: 19083750

3

Cardiac gene defects can cause sudden cardiac death in young people.

Kauferstein S, Kiehne N, Neumann T, Pitschner HF, Bratzke H. Kauferstein S, et al. Dtsch Arztebl Int. 2009 Jan;106(4):41-7. doi: 10.3238/arztebl.2009.0041. Epub 2009 Jan 23. Dtsch Arztebl Int. 2009. PMID: 19564966 Free PMC article. Review.

4

Cardiac channelopathy causing sudden death as revealed by molecular autopsy.

Kauferstein S, Kiehne N, Peigneur S, Tytgat J, Bratzke H. Kauferstein S, et al. Int J Legal Med. 2013 Jan;127(1):145-51. doi: 10.1007/s00414-012-0679-5. Epub 2012 Feb 28. Int J Legal Med. 2013. PMID: 22370996

5

Genetic analysis of sudden unexplained death: a multidisciplinary approach.

Kauferstein S, Kiehne N, Jenewein T, Biel S, Kopp M, König R, Erkapic D, Rothschild M, Neumann T. Kauferstein S, et al. Forensic Sci Int. 2013 Jun 10;229(1-3):122-7. doi: 10.1016/j.forsciint.2013.03.050. Epub 2013 Apr 30. Forensic Sci Int. 2013. PMID: 23683917

6

Mutation in S6 domain of HCN4 channel in patient with suspected Brugada syndrome modifies channel function.

Biel S, Aquila M, Hertel B, Berthold A, Neumann T, DiFrancesco D, Moroni A, Thiel G, Kauferstein S. Biel S, et al. Among authors: kauferstein s. Pflugers Arch. 2016 Oct;468(10):1663-71. doi: 10.1007/s00424-016-1870-1. Epub 2016 Aug 23. Pflugers Arch. 2016. PMID: 27553229

7

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.

Jenewein T, Beckmann BM, Rose S, Osterhues HH, Schmidt U, Wolpert C, Miny P, Marschall C, Alders M, Bezzina CR, Wilde AAM, Kääb S, Kauferstein S. Jenewein T, et al. Among authors: kauferstein s. Forensic Sci Int. 2017 Jun;275:187-194. doi: 10.1016/j.forsciint.2017.02.038. Epub 2017 Mar 20. Forensic Sci Int. 2017. PMID: 28391114

8

Relevance of molecular testing in patients with a family history of sudden death.

Kauferstein S, Herz N, Scheiper S, Biel S, Jenewein T, Kunis M, Erkapic D, Beckmann BM, Neumann T. Kauferstein S, et al. Forensic Sci Int. 2017 Jul;276:18-23. doi: 10.1016/j.forsciint.2017.04.001. Epub 2017 Apr 13. Forensic Sci Int. 2017. PMID: 28472724

9

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.

Scheiper S, Hertel B, Beckmann BM, Kääb S, Thiel G, Kauferstein S. Scheiper S, et al. Among authors: kauferstein s. BMC Med Genet. 2017 Oct 10;18(1):113. doi: 10.1186/s12881-017-0472-x. BMC Med Genet. 2017. PMID: 29017447 Free PMC article.

10

Influence of genetic modifiers on sudden cardiac death cases.

Jenewein T, Neumann T, Erkapic D, Kuniss M, Verhoff MA, Thiel G, Kauferstein S. Jenewein T, et al. Among authors: kauferstein s. Int J Legal Med. 2018 Mar;132(2):379-385. doi: 10.1007/s00414-017-1739-7. Epub 2017 Dec 6. Int J Legal Med. 2018. PMID: 29214556

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