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Jump to: 2018 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2009 | 2008 | 2006 | 2004 | 2003 | 2002

2018

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.
Geissler, S. and Textor, M. and Stumpp, S. and Seitz, S. and Lekaj, A. and Brunk, S. and Klaassen, S. and Schinke, T. and Klein, C. and Mundlos, S. and Kornak, U. and Kühnisch, J.
PLoS ONE 13 (6): e0198510. 7 June 2018

2016

The progressive ankyloses protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Seifert, W. and Posor, Y. and Schu, P. and Stenbeck, G. and Mundlos, S. and Klaassen, S. and Nürnberg, P. and Haucke, V. and Kornak, U. and Kühnisch, J.
Human Molecular Genetics 25 (17): 3836-3848. 1 September 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim, A. and Hitz, M.P. and Wilsdon, A. and Breckpot, J. and Turki, S.H.A. and Thienpont, B. and McRae, J. and Fitzgerald, T.W. and Singh, T. and Swaminathan, G.J. and Prigmore, E. and Rajan, D. and Abdul-Khaliq, H. and Banka, S. and Bauer, U.M.M. and Bentham, J. and Berger, F. and Bhattacharya, S. and Bu'Lock, F. and Canham, N. and Colgiu, I.G. and Cosgrove, C. and Cox, H. and Daehnert, I. and Daly, A. and Danesh, J. and Fryer, A. and Gewillig, M. and Hobson, E. and Hoff, K. and Homfray, T. and Kahlert, A.K. and Ketley, A. and Kramer, H.H. and Lachlan, K. and Lampe, A.K. and Louw, J.J. and Manickara, A.K. and Manase, D. and McCarthy, K.P. and Metcalfe, K. and Moore, C. and Newbury-Ecob, R. and Omer, S.O. and Ouwehand, W.H. and Park, S.M. and Parker, M.J. and Pickardt, T. and Pollard, M.O. and Robert, L. and Roberts, D.J. and Sambrook, J. and Setchfield, K. and Stiller, B. and Thornborough, C. and Toka, O. and Watkins, H. and Williams, D. and Wright, M. and Mital, S. and Daubeney, P.E.F. and Keavney, B. and Goodship, J. and Abu-Sulaiman, R.M. and Klaassen, S. and Wright, C.F. and Firth, H.V. and Barrett, J.C. and Devriendt, K. and FitzPatrick, D.R. and Brook, J.D. and Hurles, M.E.
Nature Genetics 48 (9): 1060-1065. 1 August 2016

2015

Position paper of cardiovascular disease : genetic diagnostics in cardiovascular diseases [Positionspapier Kardiovaskulaere Erkrankungen: Gendiagnostik bei kardiovaskulaeren Erkrankungen ].
Schulze-Bahr, E. and Klaassen, S. and Abdul-Khaliq, H. and Schunkert, H.
Deutsche Medizinische Wochenschrift 140 (20): 1538. October 2015

Malformations of the left ventricle: what comes first: form or function?
Klaassen, S.
Circulation Cardiovascular Genetics 8 (4): 537-540. August 2015

Gendiagnostik bei kardiovaskulären Erkrankungen: Positionspapier der Deutschen Gesellschaft für Kardiologie (DGK) und der Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK) [Molecular diagnostics of cardiovascular diseases: Expert consensus statement by the German Cardiac Society (DGK) and the German Society of Pediatric Cardiology (DGPK)].
Schulze-Bahr, E. and Klaassen, S. and Abdul-Khaliq, H. and Schunkert, H.
Kardiologe 9 (3): 213-243. June 2015

2014

Rare variants in NR2F2 cause congenital heart defects in humans.
Al Turki, S. and Manickaraj, A.K. and Mercer, C.L. and Gerety, S.S. and Hitz, M.P. and Lindsay, S. and D'Alessandro, L.C.A. and Swaminathan, G.J. and Bentham, J. and Arndt, A.K. and Low, J. and Breckpot, J. and Gewillig, M. and Thienpont, B. and Abdul-Khaliq, H. and Harnack, C. and Hoff, K. and Kramer, H.H. and Schubert, S. and Siebert, R. and Toka, O. and Cosgrove, C. and Watkins, H. and Lucassen, A.M. and O'Kelly, I.M. and Salmon, A.P. and Bu'Lock, F.A. and Granados-Riveron, J. and Setchfield, K. and Thornborough, C. and Brook, J.D. and Mulder, B. and Klaassen, S. and Bhattacharya, S. and Devriendt, K. and Fitzpatrick, D.F. and Wilson, D.I. and Mital, S. and Hurles, M.E.
American Journal of Human Genetics 94 (4): 574-585. 3 April 2014

Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot.
Bansal, V. and Dorn, C. and Grunert, M. and Klaassen, S. and Hetzer, R. and Berger, F. and Sperling, S.R.
PLoS ONE 9 (1): e85375. 6 January 2014

Reponse to De Leeuw and Houge.
Arndt, A.K. and Macrae, C.A. and Klaassen, S.
American Journal of Human Genetics 94 (1): 154-155. 2 January 2014

2013

Left ventricular non-compaction: prevalence in congenital heart disease.
Stähli, B.E. and Gebhard, C. and Biaggi, P. and Klaassen, S. and Valsangiacomo Buechel, E. and Attenhofer Jost, C.H. and Jenni, R. and Tanner, F.C. and Greutmann, M.
International Journal of Cardiology 167 (6): 2477-2481. 1 September 2013

Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Vermeer, A.M. and van Engelen, K. and Postma, A.V. and Baars, M.J. and Christiaans, I. and De Haij, S. and Klaassen, S. and Mulder, B.J. and Keavney, B.
American Journal of Medical Genetics C 163 (3): 178-184. August 2013

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt, A.K. and Schaefer, S. and Drenckhahn, J.D. and Sabeh, M.K. and Plovie, E.R. and Caliebe, A. and Klopocki, E. and Musso, G. and Werdich, A.A. and Kalwa, H. and Heinig, M. and Padera, R.F. and Wassilew, K. and Bluhm, J. and Harnack, C. and Martitz, J. and Barton, P.J. and Greutmann, M. and Berger, F. and Huebner, N. and Siebert, R. and Kramer, H.H. and Cook, S.A. and Macrae, C.A. and Klaassen, S.
American Journal of Human Genetics 93 (1): 67-77. 11 July 2013

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
van Engelen, K. and Postma, A.V. and van de Meerakker, J.B.A. and Roos-Hesselink, J.W. and Helderman-van den Enden, A.T.J.M. and Vliegen, H.W. and Rahman, T. and Baars, M.J.H. and Sels, J.W. and Bauer, U. and Pickardt, T. and Sperling, S.R. and Moorman, A.F.M. and Keavney, B. and Goodship, J. and Klaassen, S. and Mulder, B.J.
Netherlands Heart Journal 21 (3): 113-117. March 2013

2012

Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies.
Grothoff, M. and Pachowsky, M. and Hoffmann, J. and Posch, M. and Klaassen, S. and Lehmkuhl, L. and Gutberlet, M.
European Radiology 22 (12): 2699-2709. December 2012

Rare copy number variants contribute to congenital left-sided heart disease.
Hitz, M.P. and Lemieux-Perreault, L.P. and Marshall, C. and Feroz-Zada, Y. and Davies, R. and Yang, S.W. and Lionel, A.C. and D'Amours, G. and Lemyre, E. and Cullum, R. and Bigras, J.L. and Thibeault, M. and Chetaille, P. and Montpetit, A. and Khairy, P. and Overduin, B. and Klaassen, S. and Hoodless, P. and Awadalla, P. and Hussin, J. and Idaghdour, Y. and Nemer, M. and Stewart, A.F. and Boerkoel, C. and Scherer, S.W. and Richter, A. and Dube, M.P. and Andelfinger, G.
PLoS Genetics 8 (9): e1002903. 6 September 2012

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo, W. and Schafer, S. and Greaser, M.L. and Radke, M.H. and Liss, M. and Govindarajan, T. and Maatz, H. and Schulz, H. and Lincoln, S.E. and Parrish, A.M. and Dauksaite, V. and Vakeel, P. and Klaassen, S. and Gerull, B. and Thierfelder, L. and Regitz-Zagrosek, V. and Hacker, T.A. and Saupe, K.W. and Dec, G.W. and Ellinor, P.T. and MacRae, C.A. and Spallek, B. and Fischer, R. and Perrot, A. and Ozcelik, C. and Saar, K. and Hubner, N. and Gotthardt, M.
Nature Medicine 18 (5): 766-773. May 2012

Predictors of adverse outcome in adolescents and adults with isolated left ventricular noncompaction.
Greutmann, M. and Mah, M.L. and Silversides, C.K. and Klaassen, S. and Attenhofer Jost, C.H. and Jenni, R. and Oechslin, E.N.
American Journal of Cardiology 109 (2): 276-281. 15 January 2012

2011

Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
Probst, S. and Oechslin, E. and Schuler, P. and Greutmann, M. and Boye, P. and Knirsch, W. and Berger, F. and Thierfelder, L. and Jenni, R. and Klaassen, S.
Circulation Cardiovascular Genetics 4 (4): 367-374. 1 August 2011

Mutations in the sarcomere protein gene MYH7 in Ebstein's anomaly.
Postma, A.V. and van Engelen, K. and van de Meerakker, J. and Rahman, T. and Probst, S. and Baars, M.J. and Bauer, U. and Pickardt, T. and Sperling, S.R. and Berger, F. and Moorman, A.F. and Mulder, B.J. and Thierfelder, L. and Keavney, B. and Goodship, J. and Klaassen, S.
Circulation Cardiovascular Genetics 4 (1): 43-50. February 2011

2009

Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
Gramlich, M. and Michely, B. and Krohne, C. and Heuser, A. and Erdmann, B. and Klaassen, S. and Hudson, B. and Magarin, M. and Kirchner, F. and Todiras, M. and Granzier, H. and Labeit, S. and Thierfelder, L. and Gerull, B.
Journal of Molecular and Cellular Cardiology 47 (3): 352-358. September 2009

2008

Mutations in sarcomere protein genes in left ventricular noncompaction.
Klaassen, S. and Probst, S. and Oechslin, E. and Gerull, B. and Krings, G. and Schuler, P. and Greutmann, M. and Huerlimann, D. and Yegitbasi, M. and Pons, L. and Gramlich, M. and Drenckhahn, J.D. and Heuser, A. and Berger, F. and Jenni, R. and Thierfelder, L.
Circulation 117 (22): 2893-2901. 3 June 2008

Focused Review: Ventricular noncompaction: an update.
Klaassen, S.
In: Braunwald's Heart Disease: a textbook of cardiovascular medicine. Saunders (U.S.A.), Philadelphia, Pa., Chapter 65. ISBN 978-1-416-04104-7 2008

2006

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.
Heuser, A. and Plovie, E.R. and Ellinor, P.T. and Grossmann, K.S. and Shin, J.T. and Wichter, T. and Basson, C.T. and Lerman, B.B. and Sasse-Klaassen, S. and Thierfelder, L. and MacRae, C.A. and Gerull, B.
American Journal of Human Genetics 79 (6): 1081-1088. December 2006

A novel locus for dilated cardiomyopathy, diffuse myocardial fibrosis, and sudden death on chromosome 10q25-26.
Ellinor, P.T. and Sasse-Klaassen, S. and Probst, S. and Gerull, B. and Shin, J.T. and Toeppel, A. and Heuser, A. and Michely, B. and Yoerger, D.M. and Song, B.S. and Pilz, B. and Krings, G. and Coplin, B. and Lange, P.E. and Dec, G.W. and Hennies, H.C. and Thierfelder, L. and MacRae, C.A.
Journal of the American College of Cardiology 48 (1): 106-111. 4 July 2006

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
Gerull, B. and Atherton, J. and Geupel, A. and Sasse-Klaassen, S. and Heuser, A. and Frenneaux, M. and McNabb, M. and Granzier, H. and Labeit, S. and Thierfelder, L.
Journal of Molecular Medicine 84 (6): 478-483. June 2006

2004

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull, B. and Heuser, A. and Wichter, T. and Paul, M. and Basson, C.T. and McDermott, D.A. and Lerman, B.B. and Markowitz, S.M. and Ellinor, P.T. and MacRae, C.A. and Peters, S. and Grossmann, K.S. and Drenckhahn, J. and Michely, B. and Sasse-Klaassen, S. and Birchmeier, W. and Dietz, R. and Breithardt, G. and Schulze-Bahr, E. and Thierfelder, L.
Nature Genetics 36 (11): 1162-1164. November 2004

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.
Sasse-Klaassen, S. and Probst, S. and Gerull, B. and Oechslin, E. and Nuernberg, P. and Heuser, A. and Jenni, R. and Hennies, H.C. and Thierfelder, L.
Circulation 109 (22): 2720-2723. 8 June 2004

2003

Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients.
Sasse-Klaassen, S. and Gerull, B. and Oechslin, E. and Jenni, R. and Thierfelder, L.
American Journal of Medical Genetics A 119A (2): 162-167. 1 June 2003

2002

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull, B. and Gramlich, M. and Atherton, J. and McNabb, M. and Trombitas, K. and Sasse-Klaassen, S. and Seidman, J.G. and Seidman, C. and Granzier, H. and Labeit, S. and Frenneaux, M. and Thierfelder, L.
Nature Genetics 30 (2): 201-204. February 2002

This list was generated on Sun Dec 16 02:20:52 2018 CET.
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