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Select item 75948791.

Parameters affecting outcome of paediatric cardiomyopathies in the intensive care unit: experience of an Egyptian tertiary centre over 7 years

Alaa A. Sobeih, Sonia A. El-Saiedi, Noha S. Abdel Khalek, Shereen A. Attia, Baher M. Hanna

Libyan J Med. 2020; 15(1): 1822073. Published online 2020 Oct 13. doi: 10.1080/19932820.2020.1822073

PMCID:: PMC7594879

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Select item 58382542.

Myocardial Effective Transverse Relaxation Time T₂^* is Elevated in Hypertrophic Cardiomyopathy: A 7.0 T Magnetic Resonance Imaging Study

Till Huelnhagen, Min-Chi Ku, Henning Matthias Reimann, Teresa Serradas Duarte, Andreas Pohlmann, Bert Flemming, Erdmann Seeliger, Christina Eichhorn, Victor A. Ferrari, Marcel Prothmann, Jeanette Schulz-Menger, Thoralf Niendorf

Sci Rep. 2018; 8: 3974. Published online 2018 Mar 5. doi: 10.1038/s41598-018-22439-x

PMCID:: PMC5838254

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Select item 47492133.

High Spatial Resolution Cardiovascular Magnetic Resonance at 7.0 Tesla in Patients with Hypertrophic Cardiomyopathy – First Experiences: Lesson Learned from 7.0 Tesla

Marcel Prothmann, Florian von Knobelsdorff-Brenkenhoff, Agnieszka Töpper, Matthias A. Dieringer, Etham Shahid, Andreas Graessl, Jan Rieger, Darius Lysiak, C. Thalhammer, Till Huelnhagen, Peter Kellman, Thoralf Niendorf, Jeanette Schulz-Menger

PLoS One. 2016; 11(2): e0148066. Published online 2016 Feb 10. doi: 10.1371/journal.pone.0148066

PMCID:: PMC4749213

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Select item 32275014.

Cardiac Function in 7-8-Year-Old Offspring of Women with Type 1 Diabetes

Maarten Rijpert, Johannes M. P. J. Breur, Inge M. Evers, Harold W. de Valk, Cobi J. Heijnen, Folkert J. Meijboom, Gerard H. A. Visser

Exp Diabetes Res. 2011; 2011: 564316. Published online 2011 Nov 15. doi: 10.1155/2011/564316

PMCID:: PMC3227501

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Select item 26513835.

A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family

Murali D Bashyam, Gorinabele R Savithri, Munimanda Gopikrishna, Calambur Narasimhan

Can J Cardiol. 2007 Aug; 23(10): 788–790. doi: 10.1016/s0828-282x(07)70828-0

PMCID:: PMC2651383

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Select item 105028716.

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

Kathryn A. McGurk, Xiaolei Zhang, Pantazis Theotokis, Kate Thomson, Andrew Harper, Rachel J. Buchan, Erica Mazaika, Elizabeth Ormondroyd, William T. Wright, Daniela Macaya, Chee Jian Pua, Birgit Funke, Daniel G. MacArthur, Sanjay K. Prasad, Stuart A. Cook, Mona Allouba, Yasmine Aguib, Magdi H. Yacoub, Declan P. O'Regan, Paul J.R. Barton, Hugh Watkins, Leonardo Bottolo, James S. Ware

Am J Hum Genet. 2023 Sep 7; 110(9): 1482–1495. Published online 2023 Aug 30. doi: 10.1016/j.ajhg.2023.08.003

PMCID:: PMC10502871

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Select item 104741057.

Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy

Ramin Garmany, J. Martijn Bos, Surendra Dasari, Kenneth L. Johnson, David J. Tester, John R. Giudicessi, Cristobal dos Remedios, Joseph J. Maleszewski, Steve R. Ommen, Joseph A. Dearani, Michael J. Ackerman

Sci Rep. 2023; 13: 14341. Published online 2023 Sep 1. doi: 10.1038/s41598-023-40795-1

PMCID:: PMC10474105

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Select item 104485528.

Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation

Aleksandra Rojek, Beata Wikiera, Anna Noczynska, Marek Niedziela

J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 312–317. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2021.2021.0256

PMCID:: PMC10448552

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Select item 104038729.

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu

Orphanet J Rare Dis. 2023; 18: 231. Published online 2023 Aug 4. doi: 10.1186/s13023-023-02848-6

PMCID:: PMC10403872

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Select item 1021883910.

Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes

Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli

Int J Mol Sci. 2023 May; 24(10): 9108. Published online 2023 May 22. doi: 10.3390/ijms24109108

PMCID:: PMC10218839

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Select item 1017880011.

Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

Stefania Lenarduzzi, Beatrice Spedicati, Beatrice Alessandrini, Paola Tesolin, Alessia Paldino, Marta Gigli, Gianfranco Sinagra, Paolo Gasparini, Matteo Dal Ferro, Giorgia Girotto

Mol Genet Genomic Med. 2023 May; 11(5): e2143. Published online 2023 Feb 14. doi: 10.1002/mgg3.2143

PMCID:: PMC10178800

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Select item 1017864812.

Pathogenic BCS1L Mutation Resulting in Hypertrophic Cardiomyopathy: A Unique Presentation of Nuclear Mitochondrial Disease

Cameron Incognito, Jeffrey Hedley, Kristine T. Posadas, Xiangling Wang, Milind Desai

Tex Heart Inst J. 2023 Mar; 50(2): e217730. Published online 2023 Mar 31. doi: 10.14503/THIJ-21-7730

PMCID:: PMC10178648

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Select item 1011278513.

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan

Noriyoshi Akiyama, Ryohei Suzuki, Takahiro Saito, Yunosuke Yuchi, Hisashi Ukawa, Yuki Matsumoto

PLoS One. 2023; 18(4): e0283433. Published online 2023 Apr 18. doi: 10.1371/journal.pone.0283433

PMCID:: PMC10112785

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Select item 1005329014.

Lumican accumulates with fibrillar collagen in fibrosis in hypertrophic cardiomyopathy

Chloe Rixon, Kristine Andreassen, Xin Shen, Pugazendhi Murugan Erusappan, Vibeke Marie Almaas, Sheryl Palmero, Christen Peder Dahl, Thor Ueland, Ivar Sjaastad, William Edward Louch, Mathis Korseberg Stokke, Theis Tønnessen, Geir Christensen, Ida Gjervold Lunde

ESC Heart Fail. 2023 Apr; 10(2): 858–871. Published online 2022 Nov 29. doi: 10.1002/ehf2.14234

PMCID:: PMC10053290

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Select item 1004840615.

Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review

Qin Zhang, Qianqian Ouyang, Jingjing Xiang, Hong Li, Haitao Lv, Yu An

Genes (Basel) 2023 Mar; 14(3): 552. Published online 2023 Feb 22. doi: 10.3390/genes14030552

PMCID:: PMC10048406

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Select item 1000326316.

Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction in Stem Cell Model of MYH7 E848G Hypertrophic Cardiomyopathy

Alexander M. Loiben, Wei-Ming Chien, Clayton E. Friedman, Leslie S.-L. Chao, Gerhard Weber, Alex Goldstein, Nathan J. Sniadecki, Charles E. Murry, Kai-Chun Yang

Int J Mol Sci. 2023 Mar; 24(5): 4909. Published online 2023 Mar 3. doi: 10.3390/ijms24054909

PMCID:: PMC10003263

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Select item 982067417.

Deficiency of Adipose Triglyceride Lipase Induces Metabolic Syndrome and Cardiomyopathy in Zebrafish

Hsin-Hung Lai, Kun-Yun Yeh, Hung-Ming Hsu, Guor Mour Her

Int J Mol Sci. 2023 Jan; 24(1): 117. Published online 2022 Dec 21. doi: 10.3390/ijms24010117

PMCID:: PMC9820674

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Select item 978797018.

RNA‐seq profiling reveals different pathways between remodeled vessels and myocardium in hypertrophic cardiomyopathy

Annalinda Pisano, Loredana Le Pera, Raffaella Carletti, Bruna Cerbelli, Maria G. Pignataro, Angelina Pernazza, Fabrizio Ferre, Maria Lombardi, Davide Lazzeroni, Iacopo Olivotto, Ornella E. Rimoldi, Chiara Foglieni, Paolo G. Camici, Giulia d'Amati

Microcirculation. 2022 Nov; 29(8): e12790. Published online 2022 Oct 14. doi: 10.1111/micc.12790

PMCID:: PMC9787970

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Select item 977375119.

Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic

David Zemánek, Jaroslav Januška, Tomáš Honěk, Karol Čurila, Miloš Kubánek, Štěpánka Šindelářová, Lucie Zahálková, Petr Klofáč, Eliška Laštůvková, Eva Lichnerová, Renata Aiglová, Jan Lhotský, Jiří Vondrák, Gabriela Dostálová, Miloš Táborský, David Kasper, Aleš Linhart

ESC Heart Fail. 2022 Dec; 9(6): 4160–4166. Published online 2022 Sep 10. doi: 10.1002/ehf2.14135

PMCID:: PMC9773751

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Select item 977014020.

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population

Mimount Bourfiss, Marion van Vugt, Abdulrahman I. Alasiri, Bram Ruijsink, Jessica van Setten, A. Floriaan Schmidt, Dennis Dooijes, Esther Puyol-Antón, Birgitta K. Velthuis, J. Peter van Tintelen, Anneline S.J.M. te Riele, Annette F. Baas, Folkert W. Asselbergs

Circ Genom Precis Med. 2022 Dec; 15(6): e003704. Published online 2022 Oct 20. doi: 10.1161/CIRCGEN.122.003704

PMCID:: PMC9770140

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