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| Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification. Circulation. Genomic and precision medicine 2022 Sep 101161CIRCGEN120002981. van der Meulen Marijke H, Herkert Johanna C, den Boer Susanna L, du Marchie Sarvaas Gideon J, Blom Nico A, Ten Harkel Arend D J, Breur Hans M P J, Rammeloo Lukas A J, Tanke Ronald B, Marcelis Carlo, van de Laar Ingrid M B H, Verhagen Judith M A, Lekanne Dit Deprez Ronald H, Barge-Schaapveld Daniela Q C M, Baas Annette F, Sammani Arjan, Christiaans Imke, van Tintelen J Peter, Dalinghaus Michi |
| Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause. Journal of the American Heart Association 2022 4 11 (9): e025643. Resdal Dyssekilde Johnni, Frederiksen Tanja Charlotte, Christiansen Morten Krogh, Hasle Sørensen Rikke, Pedersen Lisbeth Nørum, Loof Møller Peter, Christensen Lene Svendstrup, Larsen Jacob Moesgaard, Thomsen Kristian Korsgaard, Lindhardt Tommi Bo, Böttcher Morten, Molsted Stig, Havndrup Ole, Fischer Thomas, Møller Dorthe Svenstrup, Henriksen Finn Lund, Johansen Jens Brock, Nielsen Jens Cosedis, Bundgaard Henning, Nygaard Mette, Jensen Henrik Kjæru |
| Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive. Journal of the American Heart Association 2022 4 11 (8): e024960. Castrini Anna I, Skjølsvik Eystein, Estensen Mette E, Almaas Vibeke M, Skulstad Helge, Lyseggen Erik, Edvardsen Thor, Lie Øyvind H, Picard Kermshlise C I, Lakdawala Neal K, Haugaa Kristina |
| Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies. Journal of the American College of Cardiology 2022 11 80 (21): 1981-1994. Paldino Alessia, Dal Ferro Matteo, Stolfo Davide, Gandin Ilaria, Medo Kristen, Graw Sharon, Gigli Marta, Gagno Giulia, Zaffalon Denise, Castrichini Matteo, Masè Marco, Cannatà Antonio, Brun Francesca, Storm Garrett, Severini Giovanni Maria, Lenarduzzi Stefania, Girotto Giorgia, Gasparini Paolo, Bortolotti Francesca, Giacca Mauro, Zacchigna Serena, Merlo Marco, Taylor Matthew R G, Mestroni Luisa, Sinagra Gianfran |
| Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. Circulation 2021 9 144 (20): 1600-1611. Gigli Marta, Stolfo Davide, Graw Sharon L, Merlo Marco, Gregorio Caterina, Nee Chen Suet, Dal Ferro Matteo, PaldinoMD Alessia, De Angelis Giulia, Brun Francesca, Jirikowic Jean, Salcedo Ernesto E, Turja Sylvia, Fatkin Diane, Johnson Renee, van Tintelen J Peter, Te Riele Anneline S J M, Wilde Arthur A M, Lakdawala Neal K, Picard Kermshlise, Miani Daniela, Muser Daniele, Maria Severini Giovanni, Calkins Hugh, James Cynthia A, Murray Brittney, Tichnell Crystal, Parikh Victoria N, Ashley Euan A, Reuter Chloe, Song Jiangping, Judge Daniel P, McKenna William J, Taylor Matthew R G, Sinagra Gianfranco, Mestroni Lui |
| Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report. Molecular medicine reports 2020 Apr . Fan Peng, Zhang Di, Yang Kun-Qi, Tian Tao, Luo Fang, Liu Ya-Xin, Wang Lin-Ping, Zhou Xian-Lia |
| Genetic Basis and Genotype-Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy. Scientific reports 2020 2 10 (1): 2226. Zhang Xin-Lin, Xie Jun, Lan Rong-Fang, Kang Li-Na, Wang Lian, Xu Wei, Xu Bi |
| Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing. Molecular genetics & genomic medicine 2020 9 8 (11): e1504. Carnevale Alessandra, Rosas-Madrigal Sandra, Rosendo-Gutiérrez Rigoberto, López-Mora Enrique, Romero-Hidalgo Sandra, Avila-Vazzini Nydia, Jacobo-Albavera Leonor, Domínguez-Pérez Mayra, Vargas-Alarcón Gilberto, Pérez-Villatoro Fernando, Navarrete-Martínez Juana Inés, Villarreal-Molina María Tere |
| Late gadolinium enhancement role in arrhythmic risk stratification of patients with LMNA cardiomyopathy: results from a long-term follow-up multicentre study. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020 9 22 (12): 1864-1872. Peretto Giovanni, Barison Andrea, Forleo Cinzia, Di Resta Chiara, Esposito Antonio, Aquaro Giovanni Donato, Scardapane Arnaldo, Palmisano Anna, Emdin Michele, Resta Nicoletta, Santoni Anna, Guaricci Andrea Igoren, Santobuono Vincenzo Ezio, Pepe Martino, Favale Stefano, Ferrari Maurizio, Benedetti Sara, Della Bella Paolo, Sala Simo |
| Predicting sustained ventricular arrhythmias in dilated cardiomyopathy: a meta-analysis and systematic review. ESC heart failure 2020 4 7 (4): 1430-1441. Sammani Arjan, Kayvanpour Elham, Bosman Laurens P, Sedaghat-Hamedani Farbod, Proctor Tanja, Gi Weng-Tein, Broezel Alicia, Jensen Katrin, Katus Hugo A, Te Riele Anneline S J M, Meder Benjamin, Asselbergs Folkert |
| Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry. Revista espanola de cardiologia (English ed.) 2020 7 74 (3): 216-224. Barriales-Villa Roberto, Ochoa Juan P, Larrañaga-Moreira José M, Salazar-Mendiguchía Joel, Díez-López Carles, Restrepo-Córdoba María Alejandra, Álvarez-Rubio Jorge, Robles-Mezcua Ainhoa, Olmo-Conesa María C, Nicolás-Rocamora Elisa, Sanz Jorge, Villacorta Eduardo, Gallego-Delgado María, Yotti Raquel, Espinosa María Ángeles, Manovel Ana, Rincón-Díaz Luis M, Jiménez-Jaimez Juan, Bermúdez-Jiménez Francisco J, Basurte-Elorz M Teresa, Climent-Payá Vicente, García-Álvarez María I, Rodríguez-Palomares José Fernando, Limeres-Freire Javier, Pérez-Guerrero Ainhoa, Cantero-Pérez Eva M, Peña-Peña María L, Palomino-Doza Julián, Crespo-Leiro María G, García-Pinilla José M, Zorio Esther, Ripoll-Vera Tomás, García-Pavía Pablo, Ortiz-Genga Martín, Monserrat Loren |
| Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy. Journal of the American College of Cardiology 2019 Sep 74 (11): 1480-1490. Gigli Marta, Merlo Marco, Graw Sharon L, Barbati Giulia, Rowland Teisha J, Slavov Dobromir B, Stolfo Davide, Haywood Mary E, Dal Ferro Matteo, Altinier Alessandro, Ramani Federica, Brun Francesca, Cocciolo Andrea, Puggia Ilaria, Morea Gaetano, McKenna William J, La Rosa Francisco G, Taylor Matthew R G, Sinagra Gianfranco, Mestroni Lui |
| Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation. Diabetes & metabolism 2018 Oct . Kwapich M, Lacroix D, Espiard S, Ninni S, Brigadeau F, Kouakam C, Degroote P, Laurent J M, Tiffreau V, Jannin A, Humbert L, Ben Hamou A, Tard C, Ben Yaou R, Lamblin N, Klug D, Richard P, Vigouroux C, Bonne G, Vantyghem M C, |
| Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome. JAMA 2018 5 319 (16): 1687-1695. Gordon Leslie B, Shappell Heather, Massaro Joe, D'Agostino Ralph B, Brazier Joan, Campbell Susan E, Kleinman Monica E, Kieran Mark |
| Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy. Circulation. Heart failure 2018 12 11 (11): e005220. Verdonschot Job A J, Hazebroek Mark R, Wang Ping, Sanders-van Wijk Sandra, Merken Jort J, Adriaansen Yvonne A, van den Wijngaard Arthur, Krapels Ingrid P C, Brunner-La Rocca Hans-Peter, Brunner Han G, Heymans Stephane R |
| Plasma microRNAs as biomarkers for Lamin A/C-related dilated cardiomyopathy. Journal of molecular medicine (Berlin, Germany) 2018 7 96 (8): 845-856. Toro Rocío, Blasco-Turrión Sara, Morales-Ponce Francisco José, Gonzalez Pablo, Martínez-Camblor Pablo, López-Granados Amador, Brugada Ramon, Campuzano Oscar, Pérez-Serra Alexandra, Rosa Longobardo Felix, Mangas Alipio, Llorente-Cortes Vicenta, de Gonzalo-Calvo Dav |
| Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. Circulation. Cardiovascular genetics 2017 Aug 10 (4): . Hoorntje Edgar T, Bollen Ilse A, Barge-Schaapveld Daniela Q, van Tienen Florence H, Te Meerman Gerard J, Jansweijer Joeri A, van Essen Anthonie J, Volders Paul G, Constantinescu Alina A, van den Akker Peter C, van Spaendonck-Zwarts Karin Y, Oldenburg Rogier A, Marcelis Carlo L, van der Smagt Jasper J, Hennekam Eric A, Vink Aryan, Bootsma Marianne, Aten Emmelien, Wilde Arthur A, van den Wijngaard Arthur, Broers Jos L, Jongbloed Jan D, van der Velden Jolanda, van den Berg Maarten P, van Tintelen J Pet |
| High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PloS one 2017 12 12 (12): e0189489. Klauke Baerbel, Gaertner-Rommel Anna, Schulz Uwe, Kassner Astrid, Zu Knyphausen Edzard, Laser Thorsten, Kececioglu Deniz, Paluszkiewicz Lech, Blanz Ute, Sandica Eugen, van den Bogaerdt Antoon J, van Tintelen J Peter, Gummert Jan, Milting Hendr |
| Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. International journal of molecular medicine 2016 Apr . Zhao Yue, Cao Hong, Song Yindi, Feng Yue, Ding Xiaoxue, Pang Mingjie, Zhang Yunmei, Zhang Hong, Ding Jiahuan, Xia Xuesh |
| Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy. International journal of molecular medicine 2015 Oct . Zhao Yue, Feng Yue, Zhang Yun-Mei, Ding Xiao-Xue, Song Yu-Zhu, Zhang A-Mei, Liu Li, Zhang Hong, Ding Jia-Huan, Xia Xue-Sh |
| Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy. BioMed research international 2015 2015 561819. Zhao Yue, Feng Yue, Zhang Yun-Mei, Ding Xiao-Xue, Song Yu-Zhu, Zhang A-Mei, Liu Li, Zhang Hong, Ding Jia-Huan, Xia Xue-Sh |
| Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. European journal of heart failure 2013 Jan . van Spaendonck-Zwarts KY, van Rijsingen IA, van den Berg MP, Lekanne Deprez RH, Post JG, van Mil AM, Asselbergs FW, Christiaans I, van Langen IM, Wilde AA, de Boer RA, Jongbloed JD, Pinto YM, van Tintelen JP |
| Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. European journal of heart failure 2012 Nov . van Rijsingen IA, Nannenberg EA, Arbustini E, Elliott PM, Mogensen J, Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Grasso M, Serio A, Jenkins S, Rowland C, Richard P, Wilde AA, Perrot A, Pankuweit S, Zwinderman AH, Charron P, Christiaans I, Pinto YM |
| Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPAR? mutation (Y151C). Diabetologia 2011 Jul 54 (7): 1639-44. Visser M E, Kropman E, Kranendonk M E, Koppen A, Hamers N, Stroes E S, Kalkhoven E, Monajemi |
| Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? Journal of molecular medicine (Berlin, Germany) 2005 Jan 83 (1): 79-83. van Berlo Jop H, de Voogt Willem G, van der Kooi Anneke J, van Tintelen J Peter, Bonne Gisèle, Yaou Rabah Ben, Duboc Denis, Rossenbacker Tom, Heidbüchel Hein, de Visser Marianne, Crijns Harry J G M, Pinto Yigal |
| [Update on hereditary neuropathy]. Rinsho shinkeigaku = Clinical neurology 2005 1 44 (11): 991-4. Nakagawa Masanori, Takashima Hiros |
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- Page last updated:Mar 28, 2023
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