Author Thiele, Holger

21 to 40 of 94 Items

2016 | Journal Article | Research Paper
A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product
Altmüller, J.; Motameny, S.; Becker, C.; Thiele, H.; Chatterjee, S.; Wollnik, B. & Nürnberg, P. (2016)
Biological Chemistry, 397(8) pp. 791-801. DOI: https://doi.org/10.1515/hsz-2015-0300
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2016 | Journal Article
Happy heart syndrome: role of positive emotional stress in takotsubo syndrome
Ghadri, J. R.; Sarcon, A.; Diekmann, J.; Bataiosu, D. R.; Cammann, V. L.; Jurisic, S. & Napp, L. C. et al. (2016)
European Heart Journal, 37(37) pp. 2823-2829. DOI: https://doi.org/10.1093/eurheartj/ehv757
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2016 | Journal Article |
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
Rump, A.; Benet-Pages, A.; Schubert, S.; Kuhlmann, J. D.; Janavičius, R.; Macháčková, E. & Foretová, L. et al. (2016)
PLOS Genetics, 12(8) art. e1006248. DOI: https://doi.org/10.1371/journal.pgen.1006248
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2016 | Journal Article | Research Paper
A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation
Yigit, G. ; Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Moeller-Hartmann, C.; Altmüller, J. & Thiele, H. et al. (2016)
American Journal of Medical Genetics, 170(3) pp. 728-733. DOI: https://doi.org/10.1002/ajmg.a.37484
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2017 | Journal Article
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2
Moosa, S. ; Haagerup, A.; Gregersen, P. A.; Petersen, K. K.; Altmüller, J.; Thiele, H. & Nürnberg, P. et al. (2017)
American Journal of Medical Genetics Part A, 173(4) pp. 1102-1108. DOI: https://doi.org/10.1002/ajmg.a.38116
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2017 | Journal Article
PCI Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock
Thiele, H.; Akin, I.; Sandri, M.; Fuernau, G.; de Waha, S.; Meyer-Saraei, R. & Nordbeck, P. et al. (2017)
New England Journal of Medicine, 377(25) pp. 2419-2432. DOI: https://doi.org/10.1056/nejmoa1710261
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2017 | Journal Article
A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy
Weissbach, S. ; Reinert, M.-C. ; Altmüller, J.; Krätzner, R. ; Thiele, H.; Rosenbaum, T. & Nürnberg, P. et al. (2017)
American Journal of Medical Genetics Part A, 173(10) pp. 2803-2807. DOI: https://doi.org/10.1002/ajmg.a.38390
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2017 | Journal Article |
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
Huppke, P. ; Weissbach, S. ; Church, J. A.; Schnur, R.; Krusen, M.; Dreha-Kulaczewski, S. & Kühn-Velten, W. N. et al. (2017)
Nature Communications, 8(1) art. 818. DOI: https://doi.org/10.1038/s41467-017-00932-7
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2017 | Journal Article |
MR Imaging in Patients with Cardiac Pacemakers and Implantable Cardioverter Defibrillators Consensus Paper of the German Cardiac Society and the German Roentgen Society
Sommer, T.; Bauer, W.; Fischbach, K.; Kolb, C.; Luechinger, R.; Wiegand, U. & Lotz, J. et al. (2017)
ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN, 189(3) pp. 204-217. DOI: https://doi.org/10.1055/s-0043-102029
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2017 | Journal Article | Research Paper
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al. (2017)
The American Journal of Human Genetics, 101(5) pp. 833-843. DOI: https://doi.org/10.1016/j.ajhg.2017.09.016
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2017 | Journal Article | Research Paper |
Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy
Borchert, T. ; Hübscher, D. ; Guessoum, C. I. ; Lam, T. Lam, Tuan-Dinh D.; Ghadri, J. R.; Schellinger, I. N. & Tiburcy, M. et al. (2017)
Journal of the American College of Cardiology, 70(8) pp. 975-991. DOI: https://doi.org/10.1016/j.jacc.2017.06.061
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2017 | Journal Article
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Gordon, C. T.; Xue, S.; Yigit, G. ; Filali, H.; Chen, K.; Rosin, N. & Yoshiura, K.-i. et al. (2017)
Nature Genetics, 49(2) pp. 249-255. DOI: https://doi.org/10.1038/ng.3765
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2018 | Journal Article
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency
Alston, C. L.; Heidler, J.; Dibley, M. G.; Kremer, L. S.; Taylor, L. S.; Fratter, C. & French, C. E. et al. (2018)
The American Journal of Human Genetics, 103(4) pp. 592-601. DOI: https://doi.org/10.1016/j.ajhg.2018.08.013
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2018 | Journal Article
Left ventricular myocardial deformation in Takotsubo syndrome: a cardiovascular magnetic resonance myocardial feature tracking study
Stiermaier, T.; Lange, T.; Chiribiri, A.; Möller, C.; Graf, T.; Villnow, C. & Raaz, U. et al. (2018)
European Radiology, 28(12) pp. 5160-5170. DOI: https://doi.org/10.1007/s00330-018-5475-2
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2018 | Journal Article
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Romano, M.-T.; Tafazzoli, A.; Mattern, M.; Sivalingam, S.; Wolf, S.; Rupp, A. & Thiele, H. et al. (2018)
The American Journal of Human Genetics, 103(5) pp. 777-785. DOI: https://doi.org/10.1016/j.ajhg.2018.09.011
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2018 | Journal Article
Cardiac Magnetic Resonance Myocardial Feature Tracking for Optimized Prediction of Cardiovascular Events Following Myocardial Infarction
Eitel, I.; Stiermaier, T.; Lange, T.; Rommel, K.-P.; Koschalka, A.; Kowallick, J. T. & Lotz, J. et al. (2018)
JACC: Cardiovascular Imaging,. DOI: https://doi.org/10.1016/j.jcmg.2017.11.034
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2018 | Journal Article
Temporal changes within mechanical dyssynchrony and rotational mechanics in Takotsubo syndrome: A cardiovascular magnetic resonance imaging study
Backhaus, S. J.; Stiermaier, T.; Lange, T.; Chiribiri, A.; Lamata, P.; Uhlig, J. & Kowallick, J. T. et al. (2018)
International Journal of Cardiology, 273 pp. 256-262. DOI: https://doi.org/10.1016/j.ijcard.2018.04.088
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2018 | Journal Article |
Right ventricular strain assessment by cardiovascular magnetic resonance myocardial feature tracking allows optimized risk stratification in Takotsubo syndrome
Stiermaier, T.; Lange, T.; Chiribiri, A.; Möller, C.; Graf, T.; Raaz, U. & Villa, A. et al. (2018)
PLoS One, 13(8) pp. e0202146. DOI: https://doi.org/10.1371/journal.pone.0202146
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2018 | Journal Article
Long-Term Prognosis of Patients With Takotsubo Syndrome
Ghadri, J. R; Kato, K.; Cammann, V. L; Gili, S.; Jurisic, S.; Di Vece, D. & Candreva, A. et al. (2018)
Journal of the American College of Cardiology, 72(8) pp. 874-882. DOI: https://doi.org/10.1016/j.jacc.2018.06.016
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2019 | Journal Article
Left Atrial Function with MRI Enables Prediction of Cardiovascular Events after Myocardial Infarction: Insights from the AIDA STEMI and TATORT NSTEMI Trials
Schuster, A. ; Backhaus, S. J.; Stiermaier, T.; Navarra, J.-L.; Uhlig, J.; Rommel, K.-P. & Koschalka, A. et al. (2019)
Radiology, 293(2) pp. 292-302. DOI: https://doi.org/10.1148/radiol.2019190559
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