Anna Gärtner-Rommel

Anna Gärtner-Rommel

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Anna Gärtner-Rommel

Anna Gärtner-Rommel

Publications by authors named "Anna Gärtner-Rommel"

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Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.

Mol Genet Genomic Med 2019 Aug 10;7(8):e841. Epub 2019 Jul 10.

Klinikum der Ruhr-Universität Bochum, Klinik für Thorax- und Kardiovaskularchirurgie und Erich und Hanna Klessmann-Institut für Kardiovaskuläre Forschung und Entwicklung, Herz- und Diabeteszentrum NRW, Bad Oeynhausen, Germany.

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http://dx.doi.org/10.1002/mgg3.841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687666PMC
August 2019

Functional analysis of DES-p.L398P and RBM20-p.R636C.

Genet Med 2019 05 28;21(5):1246-1247. Epub 2018 Sep 28.

Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany.

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http://www.nature.com/articles/s41436-018-0291-2
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http://dx.doi.org/10.1038/s41436-018-0291-2DOI Listing
May 2019

In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.

J Mol Cell Cardiol 2019 Apr 15;129:303-313. Epub 2019 Mar 15.

Erich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany.

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http://dx.doi.org/10.1016/j.yjmcc.2019.03.014DOI Listing
April 2019

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Biophys Rev 2018 Aug 20;10(4):983-1006. Epub 2018 Jun 20.

Erich and Hanna Klessmann Institute for Cardiovascular Research & Development, Heart and Diabetes Centre NRW, Ruhr-University Bochum, Georgstrasse 11, 32545, Bad Oeynhausen, Germany.

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http://dx.doi.org/10.1007/s12551-018-0429-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082305PMC
August 2018

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.

Mol Genet Genomic Med 2018 03 23;6(2):288-293. Epub 2017 Dec 23.

Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, Bad Oeynhausen, Germany.

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http://dx.doi.org/10.1002/mgg3.358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902401PMC
March 2018

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

PLoS One 2017 18;12(12):e0189489. Epub 2017 Dec 18.

Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Clinic for Thoracic and Cardiovascular Surgery, Heart and Diabetes Center NRW, Ruhr University Bochum, Bad Oeynhausen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0189489PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5734774PMC
January 2018

(Filamin-C): A New(er) Player in the Field of Genetic Cardiomyopathies.

Circ Cardiovasc Genet 2017 12;10(6)

From the Erich and Hanna Klessmann Institute for Cardiovascular Research and Development, Heart and Diabetes Center North Rhine-Westphalia, University Hospital of the Ruhr University of Bochum, Bad Oeynhausen, Germany.

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https://www.ahajournals.org/doi/10.1161/CIRCGENETICS.117.001
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http://dx.doi.org/10.1161/CIRCGENETICS.117.001959DOI Listing
December 2017

Molecular autopsy of sudden unexplained deaths reveals genetic predispositions for cardiac diseases among young forensic cases.

Europace 2017 Nov;19(11):1881-1890

Herz- und Diabeteszentrum NRW, Universitätsklinik der Ruhr-Universität Bochum, Erich und Hanna Klessmann-Institut für Kardiovaskuläre Forschung und Entwicklung, Georgstr. 11, D-32545 Bad Oeynhausen, Germany.

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http://dx.doi.org/10.1093/europace/euw247DOI Listing
November 2017

Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics.

Sci Rep 2017 10 23;7(1):13791. Epub 2017 Oct 23.

Experimental Biophysics and Applied Nanoscience, University of Bielefeld, Bielefeld, Germany.

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http://dx.doi.org/10.1038/s41598-017-13737-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653825PMC
October 2017

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

Hum Mutat 2017 08 21;38(8):947-952. Epub 2017 Jun 21.

Department of Thoracic and Cardiovascular Surgery, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI), Bad Oeynhausen, Germany.

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http://dx.doi.org/10.1002/humu.23248DOI Listing
August 2017