A. Perrot

发表

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

P. Ellinor, V. Regitz-Zagrosek, H. Schulz, 2012, Nature Medicine.

A promoter polymorphism -945C>G in the connective tissue growth factor in heart failure patients with mechanical circulatory support: a new marker for bridge to recovery?

R. Hetzer, T. Drews, E. Potapov, 2015, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure

Michael D. Schneider, Kristina M. Ilieva, D. O’Regan, 2015, Circulation. Cardiovascular genetics.

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

A. Keren, L. Tavazzi, E. Arbustini, 2010, European heart journal.

A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy.

R. Dietz, M. Paul, R. Kreutz, 2001, European heart journal.

Dilated cardiomyopathy: more genes means more phenotypes.

K. Osterziel, A. Perrot, 2005, European heart journal.

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.

W. Haverkamp, R. Dietz, B. Erdmann, 2008, Molecular genetics and metabolism.

[Sudden cardiac death in familial hypertrophic cardiomyopathy. Identification of high-risk patients].

W. Haverkamp, R. Dietz, A. Perrot, 2005, Deutsche medizinische Wochenschrift.

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy

T. Meyer, S. Sperling, V. Ruppert, 2012, European Journal of Human Genetics.

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

S. Antonarakis, S. Iliceto, F. Mach, 2011, Journal of Medical Genetics.

Is there a common genetic basis for all familial cardiomyopathies?

R. Dietz, K. Osterziel, A. Perrot, 2007, European journal of heart failure.

Deletion of Glu at codon 13 in the TCAP gene encoding the Z-disc protein titin-cap/telethonin is a rare non-synonymous polymorphism.

K. Osterziel, A. Perrot, M. Posch, 2006, Molecular genetics and metabolism.

Human Genetics of Defects of Situs

A. Perrot, S. Rickert-Sperling, 2016 .

Calcineurin in Human Heart Hypertrophy

O. Ritter, L. Neyses, K. Osterziel, 2002, Circulation.

Mitochondrial Transcription Factors TFA, TFB1 and TFB2: A Search for DNA Variants/Haplotypes and the Risk of Cardiac Hypertrophy

V. Álvarez, E. Coto, M. Ruíz-Ortega, 2008, Disease markers.

ZBTB 17 ( MIZ 1 ) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure

Michael D. Schneider, Kristina M. Ilieva, Angharad M Roberts, 2015 .

Clinical and genetic characteristics of α cardiac actin gene mutations in hypertrophic cardiomyopathy

A. Børglum, P. Bross, O. Havndrup, 2004, Journal of Medical Genetics.

Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia

R. Dietz, K. Osterziel, W. Jung, 2003, Annals of neurology.

Mutational analysis of the PITX2 and NKX2-5 genes in patients with idiopathic atrial fibrillation.

W. Haverkamp, S. Rolf, A. Perrot, 2010, International journal of cardiology.

The G-231A polymorphism in the endothelin-A receptor gene is associated with lower aortic pressure in patients with dilated cardiomyopathy.

R. Dietz, M. Paul, R. Kreutz, 2007, American journal of hypertension.

Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: Demand for strategies in the management of presymptomatic lamin A/C mutant carriers

R. Hetzer, R. Dietz, H. Lehmkuhl, 2006, European journal of heart failure.

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

A. Mégarbané, R. Dietz, R. Harvey, 2009, Journal of Medical Genetics.

TIP30 counteracts cardiac hypertrophy and failure by inhibiting translational elongation

Xiaoke Yin, M. Mayr, M. Gaestel, 2019, EMBO molecular medicine.

Molecular genetics of congenital atrial septal defects

F. Berger, A. Perrot, C. Özcelik, 2009, Clinical Research in Cardiology.

Evidence for CTLA4 as a susceptibility gene for dilated cardiomyopathy

T. Meyer, V. Ruppert, B. Maisch, 2010, European Journal of Human Genetics.

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy

M. Böhm, R. Dietz, N. Duong, 2008, Basic Research in Cardiology.

Growth Hormone Treatment in Dilated Cardiomyopathy

R. Dietz, M. Ranke, K. Osterziel, 2001, Journal of cardiac surgery.

Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.

R. Körfer, M. Varsányi, J. Vogt, 2006, Cardiovascular research.

Plasma HER2 levels are not associated with cardiac function or hypertrophy in control subjects and heart failure patients.

R. Dietz, S. K. Ghadge, A. Perrot, 2010, International journal of cardiology.

Fabry Disease: Focus on Cardiac Manifestations and Molecular Mechanisms

R. Dietz, K. Osterziel, A. Perrot, 2002, Herz.

Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy

R. Dietz, A. Perrot, C. Özcelik, 2008, Nature Clinical Practice Cardiovascular Medicine.

Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.

M. Antognozzi, B. Brenner, H. Kubis, 2005, American journal of physiology. Heart and circulatory physiology.

A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties.

J. Behlke, S. Keller, A. Perrot, 2011, Biochemical and biophysical research communications.

Variations in the human soluble epoxide hydrolase gene and recurrence of atrial fibrillation after catheter ablation.

W. Haverkamp, M. Gollasch, W. Schunck, 2013, International journal of cardiology.

Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.

R. Hetzer, W. Haverkamp, M. Gutberlet, 2009, Heart Rhythm.

Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.

R. Dietz, V. Ruppert, B. Maisch, 2007, Molecular genetics and metabolism.

390 Titin‐cap/Telethonin mutation in a patient with hypertrophic cardiomyopathy; a novel disease gene for cardiomyopathies

K. Osterziel, N. Cardim, A. Perrot, 2005 .

Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation.

W. Haverkamp, R. Dietz, S. Rolf, 2010, European journal of medical genetics.

Mutations in the EGF-CFC Gene Cryptic Are an Infrequent Cause of Congenital Heart Disease

R. Dietz, P. Lange, B. Stiller, 2006, Pediatric Cardiology.

The heart in Anderson Fabry disease

R. Dietz, A. Perrot, M. Beck, 2002, Zeitschrift für Kardiologie.

Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.

Susana Santos, N. Cardim, A. Perrot, 2005, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.

We need a detailed phenome in the phenomenon of genetics and congenital heart disease

F. Berger, A. Perrot, C. Özcelik, 2008, Journal of Medical Genetics.

non of genetics and congenital heart disease phenome We need a detailed phenome in the

F. Berger, A. Perrot, C. Özcelik, 2008 .

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

R. Hetzer, C. Dauphin, F. Berger, 2011, PloS one.

Returning hypertrophy after surgery in a patient with hypertrophic cardiomyopathy caused by a myosin-binding protein C mutation.

F. Mohr, J. Schulz-Menger, R. Dietz, 2005, International journal of cardiology.

Mutations in the Human Muscle LIM Protein Gene in Families With Hypertrophic Cardiomyopathy

R. Dietz, D. Fürst, P. Nürnberg, 2003, Circulation.

Letter by Geier et al regarding article, "Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction".

A. Perrot, C. Ozcelik, C. Geier, 2007, Circulation.

Correction: Connective Tissue Growth Factor Overexpression in Cardiomyocytes Promotes Cardiac Hypertrophy and Protection against Pressure Overload

R. Dietz, N. Alenina, B. Erdmann, 2009, PLoS ONE.

Connective Tissue Growth Factor Overexpression in Cardiomyocytes Promotes Cardiac Hypertrophy and Protection against Pressure Overload

N. Alenina, B. Erdmann, M. Bader, 2009, PloS one.

Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects

R. Dietz, F. Berger, B. Stiller, 2008, American journal of medical genetics. Part A.

Usefulness of Doppler myocardial imaging for identification of mutation carriers of familial hypertrophic cardiomyopathy.

N. Cardim, A. Perrot, K. J. Osterziel, 2002, The American journal of cardiology.

Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study.

A. Zwinderman, Y. Pinto, E. Arbustini, 2012, Journal of the American College of Cardiology.

Human Genetics of Ventricular Septal Defect

A. Perrot, S. Rickert-Sperling, K. Bellmann, 2016 .

Novel sequence variants in dysferlin‐deficient muscular dystrophy leading to mRNA decay and possible C2‐domain misfolding

P. Robinson, W. Kress, M. Ebeling, 2006, Human mutation.

Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy

B. Brenner, W. McKenna, K. Osterziel, 2011, Basic Research in Cardiology.

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

R. Bodmer, S. Sperling, Georg Vogler, 2020, Disease Models & Mechanisms.

Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy

N. Cardim, A. Perrot, C. Özcelik, 2020, Revista Portuguesa de Cardiologia (English Edition).

Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy.

N. Cardim, A. Perrot, C. Özcelik, 2020, Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology.

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

R. Bodmer, C. D. dos Remedios, S. Sperling, 2020, Disease Models & Mechanisms.

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

A. Angelini, J. Veselka, S. Sperling, 2016, Archives of medical science : AMS.

CCN1 Mutation is Associated with Atrial Septal Defect

F. Berger, B. Stiller, A. Perrot, 2015, Pediatric Cardiology.

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

P. Robinson, G. Condorelli, G. Faggian, 2013, European Journal of Human Genetics.

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

K. Osterziel, A. Perrot, Hajo Schmidt-Traub, 2001, Human mutation.

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

H. Smeets, H. Brunner, A. Paulussen, 2016, European heart journal.

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy

B. Brenner, C. D. dos Remedios, B. Keyser, 2017, Journal of Muscle Research and Cell Motility.

Human Genetics of Tetralogy of Fallot and Double Outlet Right Ventricle

A. Perrot, C. Dorn, S. Rickert-Sperling, 2016 .

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.

Peter Nürnberg, Kenneth R Chien, Katrin Hayess, 2008, Human molecular genetics.

Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes.

Benjamin Meder, Stefan Bonn, Malte Tiburcy, 2017, Journal of molecular and cellular cardiology.

Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.

B. Brenner, W. McKenna, A. Perrot, 2009, Biophysical journal.

Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.

T. Wienker, R. Dietz, A. Reis, 1999, American journal of human genetics.

Expression profiling of human idiopathic dilated cardiomyopathy.

Hans Lehrach, Rainer Spang, Steffen Hennig, 2003, Cardiovascular research.

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure

Steffen Scheer, Jeanette Erdmann, Heribert Schunkert, 2011, European journal of heart failure.

Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

B. Brenner, C. D. dos Remedios, B. Keyser, 2018, Front. Physiol..

Effects of ACE gene insertion/deletion polymorphism on response to spironolactone in patients with chronic heart failure.

D. Francis, M. Cicoira, K. Osterziel, 2004, The American journal of medicine.

AQUA Mutant Protein Quantification of Endomyocardial Biopsy-Sized Samples From a Patient With Hypertrophic Cardiomyopathy

A. Pich, A. Perrot, A. Francino, 2022, Frontiers in Cardiovascular Medicine.

Gender‐specific differences in major cardiac events and mortality in lamin A/C mutation carriers

A. Zwinderman, Y. Pinto, E. Arbustini, 2013, European journal of heart failure.

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

S. Antonarakis, R. Lyle, J. Sztajzel, 2008, Human mutation.

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy

R. Dietz, K. Osterziel, N. Cardim, 2002, European Journal of Human Genetics.

Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.

R. Hetzer, B. Timmermann, M. Schueler, 2014, Human molecular genetics.

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

L. Schöls, R. Dietz, K. Osterziel, 2001, Journal of Molecular Medicine.

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

R. Dietz, K. Osterziel, A. Perrot, 2005, Journal of Molecular Medicine.

Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy

B. Brenner, C. D. dos Remedios, B. Keyser, 2017, Journal of Muscle Research and Cell Motility.

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

R. Dietz, H. Witt, K. Osterziel, 2005, Journal of Molecular Medicine.

Erratum: Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy (Human Molecular Genetics (2008) vol. 17 (18) (2753-2765) 10.1093/hmg/ddn160)

R. Dietz, K. Chien, E. Ehler, 2008 .