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Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance
Smid, B.E., van der Tol, L., Cecchi, F., Elliott, P.M., Hughes, D.A., Linthorst, G.E., Timmermans, J., Weidemann, F., West, M.L., Biegstraaten, M., Lekanne Deprez, R.H., Florquin, S., Postema, P.G., Tomberli, B., van der Wal, A.C., van den Bergh Weerman, M.A., Hollak, C.E.
Published in International journal of cardiology (15.12.2014)
Published in International journal of cardiology (15.12.2014)
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Journal Article
Genetic variants associated with cardiac hypertrophy-related sudden cardiac death and cardiovascular outcomes in a Finnish population
Doedens, Anne, Skarp, Sini, Holmström, Lauri, Pakanen, Lasse, Saarimäki, Samu, Kerkelä, Risto, Pylkäs, Katri, Huikuri, Heikki V, Junttila, Juhani
Published in Heart (British Cardiac Society) (01.01.2025)
Published in Heart (British Cardiac Society) (01.01.2025)
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Journal Article
T1 Measurements Identify Extracellular Volume Expansion in Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers With and Without Left Ventricular Hypertrophy
Ho, Carolyn Y., Abbasi, Siddique A., Neilan, Tomas G., Shah, Ravi V., Chen, Yucheng, Heydari, Bobak, Cirino, Allison L., Lakdawala, Neal K., Orav, E. John, González, Arantxa, López, Begoña, Díez, Javier, Jerosch-Herold, Michael, Kwong, Raymond Y.
Published in Circulation. Cardiovascular imaging (01.05.2013)
Published in Circulation. Cardiovascular imaging (01.05.2013)
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Journal Article
Echocardiographic Strain Abnormalities Precede Left Ventricular Hypertrophy Development in Hypertrophic Cardiomyopathy Mutation Carriers
Canciello, Grazia, Lombardi, Raffaella, Borrelli, Felice, Ordine, Leopoldo, Chen, Suet-Nee, Santoro, Ciro, Frisso, Giulia, di Napoli, Salvatore, Polizzi, Roberto, Cristiano, Stefano, Esposito, Giovanni, Losi, Maria-Angela
Published in International journal of molecular sciences (01.08.2024)
Published in International journal of molecular sciences (01.08.2024)
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Journal Article
Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension
Gallo, Giovanna, Forte, Maurizio, Cotugno, Maria, Marchitti, Simona, Stanzione, Rosita, Tocci, Giuliano, Bianchi, Franca, Palmerio, Silvia, Scioli, Mariarosaria, Frati, Giacomo, Sciarretta, Sebastiano, Barbato, Emanuele, Volpe, Massimo, Rubattu, Speranza
Published in Molecular medicine (Cambridge, Mass.) (09.08.2023)
Published in Molecular medicine (Cambridge, Mass.) (09.08.2023)
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Journal Article
Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR
Kozor, Rebecca, Grieve, Stuart M, Tchan, Michel C, Callaghan, Fraser, Hamilton-Craig, Christian, Denaro, Charles, Moon, James C, Figtree, Gemma A
Published in Heart (British Cardiac Society) (01.02.2016)
Published in Heart (British Cardiac Society) (01.02.2016)
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Journal Article
Ranolazine Prevents Phenotype Development in a Mouse Model of Hypertrophic Cardiomyopathy
Coppini, Raffaele, Mazzoni, Luca, Ferrantini, Cecilia, Gentile, Francesca, Pioner, Josè Manuel, Laurino, Annunziatina, Santini, Lorenzo, Bargelli, Valentina, Rotellini, Matteo, Bartolucci, Gianluca, Crocini, Claudia, Sacconi, Leonardo, Tesi, Chiara, Belardinelli, Luiz, Tardiff, Jil, Mugelli, Alessandro, Olivotto, Iacopo, Cerbai, Elisabetta, Poggesi, Corrado
Published in Circulation. Heart failure (01.03.2017)
Published in Circulation. Heart failure (01.03.2017)
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Journal Article
A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome
Singh, Gautam K., McClenaghan, Conor, Aggarwal, Manish, Gu, Hongjie, Remedi, Maria S., Grange, Dorothy K., Nichols, Colin G.
Published in Journal of the American Heart Association (20.12.2022)
Published in Journal of the American Heart Association (20.12.2022)
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Journal Article
Prevalence and Clinical Profile of Myocardial Crypts in Hypertrophic Cardiomyopathy
Maron, Martin S., Rowin, Ethan J., Lin, David, Appelbaum, Evan, Chan, Raymond H., Gibson, C. Michael, Lesser, John R., Lindberg, Jana, Haas, Tammy S., Udelson, James E., Manning, Warren J., Maron, Barry J.
Published in Circulation. Cardiovascular imaging (01.07.2012)
Published in Circulation. Cardiovascular imaging (01.07.2012)
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Journal Article
Echocardiographic Strain Imaging to Assess Early and Late Consequences of Sarcomere Mutations in Hypertrophic Cardiomyopathy
Ho, Carolyn Y, Carlsen, Christian, Thune, Jens Jakob, Havndrup, Ole, Bundgaard, Henning, Farrohi, Faranak, Rivero, Jose, Cirino, Allison L, Andersen, Paal Skytt, Christiansen, Michael, Maron, Barry J, Orav, E. John, Kober, Lars
Published in Circulation. Cardiovascular genetics (01.08.2009)
Published in Circulation. Cardiovascular genetics (01.08.2009)
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Journal Article
β-Myosin Heavy Chain Variant Val606Met Causes Very Mild Hypertrophic Cardiomyopathy in Mice, but Exacerbates HCM Phenotypes in Mice Carrying Other HCM Mutations
Blankenburg, Robert, Hackert, Katarzyna, Wurster, Sebastian, Deenen, René, Seidman, J.G., Seidman, Christine E., Lohse, Martin J., Schmitt, Joachim P.
Published in Circulation research (07.07.2014)
Published in Circulation research (07.07.2014)
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Journal Article
Comparison of Echocardiographic and Cardiac Magnetic Resonance Imaging in Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers Without Left Ventricular Hypertrophy
Valente, Anne Marie, Lakdawala, Neal K., Powell, Andrew J., Evans, Sarah P., Cirino, Allison L., Orav, E. John, MacRae, Calum A., Colan, Steven D., Ho, Carolyn Y.
Published in Circulation. Cardiovascular genetics (01.06.2013)
Published in Circulation. Cardiovascular genetics (01.06.2013)
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Journal Article
Resistance to hypertension and high Cl− excretion in humans with SLC26A4 mutations
Kim, B.G., Yoo, T.‐H., Yoo, J.‐E., Seo, Y.J., Jung, J., Choi, J.Y.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
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Journal Article
MicroRNA profiling identifies miR-7-5p and miR-26b-5p as differentially expressed in hypertensive patients with left ventricular hypertrophy
Kaneto, C.M., Nascimento, J.S., Moreira, M.C.R., Ludovico, N.D., Santana, A.P., Silva, R.A.A., Silva-Jardim, I., Santos, J.L., Sousa, S.M.B., Lima, P.S.P.
Published in Brazilian journal of medical and biological research (01.01.2017)
Published in Brazilian journal of medical and biological research (01.01.2017)
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Journal Article
Association of ACE2 Genetic Variants With Blood Pressure, Left Ventricular Mass, and Cardiac Function in Caucasians With Type 2 Diabetes
Patel, Sheila K., Wai, Bryan, Ord, Michelle, MacIsaac, Richard J., Grant, Sharon, Velkoska, Elena, Panagiotopoulos, Sianna, Jerums, George, Srivastava, Piyush M., Burrell, Louise M.
Published in American journal of hypertension (01.02.2012)
Published in American journal of hypertension (01.02.2012)
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Journal Article
Corin I555(P568) Allele Is Associated With Enhanced Cardiac Hypertrophic Response to Increased Systemic Afterload
Rame, J Eduardo, Drazner, Mark H., Post, Wendy, Peshock, Ronald, Lima, Joao, Cooper, Richard S., Dries, Daniel L.
Published in Hypertension (Dallas, Tex. 1979) (01.04.2007)
Published in Hypertension (Dallas, Tex. 1979) (01.04.2007)
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Journal Article
The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy
Jørgenrud, Benedicte, Jalanko, Mikko, Heliö, Tiina, Jääskeläinen, Pertti, Laine, Mika, Hilvo, Mika, Nieminen, Markku S., Laakso, Markku, Hyötyläinen, Tuulia, Orešič, Matej, Kuusisto, Johanna
Published in PloS one (12.08.2015)
Published in PloS one (12.08.2015)
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Journal Article
Population-based studies of myocardial hypertrophy: high resolution cardiovascular magnetic resonance atlases improve statistical power
de Marvao, Antonio, Dawes, Timothy JW, Shi, Wenzhe, Minas, Christopher, Keenan, Niall G, Diamond, Tamara, Durighel, Giuliana, Montana, Giovanni, Rueckert, Daniel, Cook, Stuart A, O’Regan, Declan P
Published in Journal of cardiovascular magnetic resonance (03.02.2014)
Published in Journal of cardiovascular magnetic resonance (03.02.2014)
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Journal Article
Vitamin D receptor (VDR) gene polymorphism is associated with left ventricular (LV) mass and predicts left ventricular hypertrophy (LVH) progression in end‐stage renal disease (ESRD) patients
Testa, Alessandra, Mallamaci, Francesca, Benedetto, Francesco A, Pisano, Anna, Tripepi, Giovanni, Malatino, Lorenzo, Thadhani, Ravi, Zoccali, Carmine
Published in Journal of bone and mineral research (01.02.2010)
Published in Journal of bone and mineral research (01.02.2010)
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Journal Article
Ultrasonic Assessment of Myocardial Microstructure in Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers With and Without Left Ventricular Hypertrophy
Hiremath, Pranoti, Lawler, Patrick R., Ho, Jennifer E., Correia, Andrew W., Abbasi, Siddique A., Kwong, Raymond Y., Jerosch-Herold, Michael, Ho, Carolyn Y., Cheng, Susan
Published in Circulation. Heart failure (01.09.2016)
Published in Circulation. Heart failure (01.09.2016)
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Journal Article