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Items: 1 to 20 of 244

1.
Indoleamine 2,3-Dioxygenase Deletion to Modulate Kynurenine Pathway and to Prevent Brain Injury after Cardiac Arrest in Mice
Aurora Magliocca, Carlo Perego, Francesca Motta, Giulia Merigo, Edoardo Micotti, Davide Olivari, Francesca Fumagalli, Jacopo Lucchetti, Marco Gobbi, Alessandra Mandelli, Roberto Furlan, Markus B. Skrifvars, Roberto Latini, Giacomo Bellani, Fumito Ichinose, Giuseppe Ristagno
Anesthesiology. 2023 Nov; 139(5): 628–645. Published online 2023 Jul 24. doi: 10.1097/ALN.0000000000004713
PMCID:
PMC10566599
ArticlePubReaderPDF–3.4MCite
2.
Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report
Carolina Melendez Valdez, Stephan Philip Leonhardt Altmayer, Adyr Eduardo Virmond Faria, Aline Weiss, Jorge Alberto Bianchi Telles, Paulo Renato Krall Fell, Luciano Vieira Targa, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa
Sao Paulo Med J. 2014; 132(5): 311–313. Published online 2014 Jul 29. doi: 10.1590/1516-3180.2014.1325737
PMCID:
PMC10496746
ArticlePubReaderPDF–777KCite
3.
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang
Mol Genet Genomic Med. 2023 Sep; 11(9): e2235. Published online 2023 Jul 19. doi: 10.1002/mgg3.2235
PMCID:
PMC10496049
ArticlePubReaderPDF–1.2MCite
4.
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy
George Joy, Christopher I. Kelly, Matthew Webber, Iain Pierce, Irvin Teh, Louise McGrath, Paula Velazquez, Rebecca K. Hughes, Huafrin Kotwal, Arka Das, Fiona Chan, Athanasios Bakalakos, Massimiliano Lorenzini, Konstantinos Savvatis, Saidi A. Mohiddin, Peter W. Macfarlane, Michele Orini, Charlotte Manisty, Peter Kellman, Rhodri H. Davies, Pier D. Lambiase, Christopher Nguyen, Jurgen E. Schneider, Maite Tome, Gabriella Captur, Erica Dall’Armellina, James C. Moon, Luis R. Lopes
Circulation. 2023 Sep 5; 148(10): 808–818. Published online 2023 Jul 18. doi: 10.1161/CIRCULATIONAHA.123.063835
PMCID:
PMC10473031
ArticlePubReaderPDF–1.1MCite
5.
Clinical manifestations and MRI features of Danon disease: a case series
Yang Zhang, Ren Zhao, Yushan Yuan, Yongqiang Yu, Bin Liu, Xiaohu Li
BMC Cardiovasc Disord. 2023; 23: 397. Published online 2023 Aug 11. doi: 10.1186/s12872-023-03356-y
PMCID:
PMC10422726
ArticlePubReaderPDF–1.3MCite
6.
Body surface potential mapping detects early disease onset in plakophilin-2-pathogenic variant carriers
Manon Kloosterman, Machteld J Boonstra, Rob W Roudijk, Mimount Bourfiss, Iris van der Schaaf, Birgitta K Velthuis, Thijs M H Eijsvogels, Feddo P Kirkels, Peter M van Dam, Peter Loh
Europace. 2023 Jul; 25(7): euad197. Published online 2023 Jul 11. doi: 10.1093/europace/euad197
PMCID:
PMC10368448
ArticlePubReaderPDF–1006KCite
7.
Left Ventricular Noncompaction: A Distinct Cardiomyopathy or a Trait Shared by Different Cardiac Diseases?
Eloisa Arbustini, Frank Weidemann, Jennifer L. Hall
J Am Coll Cardiol. Author manuscript; available in PMC 2023 Jul 18.
Published in final edited form as: J Am Coll Cardiol. 2014 Oct 28; 64(17): 1840–1850. Published online 2014 Oct 21. doi: 10.1016/j.jacc.2014.08.030
PMCID:
PMC10352990
ArticlePubReaderPDF–2.3MCite
8.
Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review
Lin Yang, GuangSheng Wu, HuiMei Yin, MengLan Pan, YaFei Zhu
BMC Pediatr. 2023; 23: 346. Published online 2023 Jul 8. doi: 10.1186/s12887-023-04161-4
PMCID:
PMC10329368
ArticlePubReaderPDF–1.3MCite
9.
Pervasive cortical and white matter anomalies in a mouse model for CHARGE syndrome
Alex P. A. Donovan, Lauren Rosko, Jacob Ellegood, Yushi Redhead, Jeremy B. A. Green, Jason P. Lerch, Jeffrey K. Huang, M. Albert Basson
J Anat. 2023 Jul; 243(1): 51–65. Published online 2023 Mar 13. doi: 10.1111/joa.13856
PMCID:
PMC10273342
ArticlePubReaderPDF–12MCite
10.
Heterogeneity of Repolarization and Cell-Cell Variability of Cardiomyocyte Remodeling Within the Myocardial Infarction Border Zone Contribute to Arrhythmia Susceptibility
Matthew Amoni, Dylan Vermoortele, Samaneh Ekhteraei-Tousi, Rosa Doñate Puertas, Guillaume Gilbert, Mohamad Youness, Bernard Thienpont, Rik Willems, H. Llewelyn Roderick, Piet Claus, Karin R. Sipido
Circ Arrhythm Electrophysiol. 2023 May; 16(5): e011677. Published online 2023 May 2. doi: 10.1161/CIRCEP.122.011677
PMCID:
PMC10187631
ArticlePubReaderPDF–5.2MCite
11.
Central Nervous System and Cardiac Abnormalities in the Setting of a De Novo Heterozygous Col4a1 Variant
Heerali Patel, Mohammed Elkhwad, Gregory C. Martin
Am J Case Rep. 2023; 24: e938651-1–e938651-4. Published online 2023 May 9. doi: 10.12659/AJCR.938651
PMCID:
PMC10176514
ArticlePubReaderPDF–491KCite
12.
Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation
Dor Markush, Pedro A. Sanchez-Lara, Katheryn Grand, Robert Wong, Ruchira Garg
Pediatr Cardiol. 2023; 44(4): 946–950. Published online 2023 Feb 15. doi: 10.1007/s00246-022-03089-3
PMCID:
PMC10063468
ArticlePubReaderPDF–420KCite
13.
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo
Int J Mol Sci. 2023 Feb; 24(3): 2490. Published online 2023 Jan 27. doi: 10.3390/ijms24032490
PMCID:
PMC9916412
ArticlePubReaderPDF–1.5MCite
14.
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease
Sarah U. Morton, Ami Norris-Brilliant, Sean Cunningham, Eileen King, Elizabeth Goldmuntz, Martina Brueckner, Thomas A. Miller, Nina H. Thomas, Chunyan Liu, Heather R. Adams, David C. Bellinger, John Cleveland, James F. Cnota, Anders M. Dale, Michele Frommelt, Bruce D. Gelb, P. Ellen Grant, Caren S. Goldberg, Hao Huang, Joshua M. Kuperman, Jennifer S. Li, Patrick S. McQuillen, Ashok Panigrahy, George A. Porter, Jr, Amy E. Roberts, Mark W. Russell, Christine E. Seidman, Madalina E. Tivarus, Evdokia Anagnoustou, Donald J. Hagler, Jr, Wendy K. Chung, Jane W. Newburger
JAMA Netw Open. 2023 Jan; 6(1): e2253191. Published online 2023 Jan 26. doi: 10.1001/jamanetworkopen.2022.53191
PMCID:
PMC9880793
ArticlePubReaderCite
15.
Characterisation of patients referred to a tertiary-level inherited cardiac condition clinic with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)
A. Aljehani, T. Kew, S. Baig, H. Cox, L. C. Sommerfeld, B. Ensam, M. Kalla, R. P. Steeds, L. Fabritz
BMC Cardiovasc Disord. 2023; 23: 14. Published online 2023 Jan 12. doi: 10.1186/s12872-022-03021-w
PMCID:
PMC9837886
ArticlePubReaderPDF–1.2MCite
16.
The clinical spectrum of a nonsense mutation in KAT6A: a case report
Dongbo Wang, Jun He, Xueyi Li, Shuyuan Yan, Linglin Pan, Tuanmei Wang, Liangrong Zhou, Jiyang Liu, Xiangwen Peng
J Int Med Res. 2022 Dec; 50(12): 03000605221140304. Published online 2022 Dec 26. doi: 10.1177/03000605221140304
PMCID:
PMC9806384
ArticlePubReaderPDF–797KCite
17.
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
ArticlePubReaderPDF–849KCite
18.
Cardiac magnetic resonance imaging of arrhythmogenic cardiomyopathy: evolving diagnostic perspectives
Alberto Cipriani, Giulia Mattesi, Riccardo Bariani, Annagrazia Cecere, Nicolò Martini, Laura De Michieli, Stefano Da Pozzo, Simone Corradin, Giorgio De Conti, Alessandro Zorzi, Raffaella Motta, Manuel De Lazzari, Barbara Bauce, Sabino Iliceto, Cristina Basso, Domenico Corrado, Martina Perazzolo Marra
Eur Radiol. 2023; 33(1): 270–282. Published online 2022 Jul 5. doi: 10.1007/s00330-022-08958-2
PMCID:
PMC9755099
ArticlePubReaderPDF–2.7MCite
19.
A Segmental Approach from Molecular Profiling to Medical Imaging to Study Bicuspid Aortic Valve Aortopathy
Froso Sophocleous, Estefania De Garate, Maria Giulia Bigotti, Maryam Anwar, Eva Jover, Aranzazu Chamorro-Jorganes, Cha Rajakaruna, Konstantina Mitrousi, Viola De Francesco, Aileen Wilson, Serban Stoica, Andrew Parry, Umberto Benedetto, Pierpaolo Chivasso, Frances Gill, Mark C. K. Hamilton, Chiara Bucciarelli-Ducci, Massimo Caputo, Costanza Emanueli, Giovanni Biglino
Cells. 2022 Dec; 11(23): 3721. Published online 2022 Nov 22. doi: 10.3390/cells11233721
PMCID:
PMC9737804
ArticlePubReaderPDF–2.4MCite
20.
Global cardiovascular risk profile and cerebrovascular abnormalities in presymptomatic individuals with CADASIL or autosomal dominant Alzheimer’s disease
Dorothee Schoemaker, Lina Velilla, Yesica Zuluaga, Ana Baena, Carolina Ospina, Yamile Bocanegra, Sergio Alvarez, Martin Ochoa-Escudero, Edmarie Guzmán-Vélez, Jairo Martinez, Francisco Lopera, Joseph F. Arboleda-Velasquez, Yakeel T. Quiroz
J Alzheimers Dis. Author manuscript; available in PMC 2022 Nov 19.
Published in final edited form as: J Alzheimers Dis. 2021; 82(2): 841–853. doi: 10.3233/JAD-210313
PMCID:
PMC9675421
ArticlePubReaderPDF–416KCite

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