Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 75 Records) |
| Query Trace: Disease and LMNA[original query] |
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| Prevalence and Prognostic Impact of Pathogenic Variants in Patients With Dilated Cardiomyopathy Referred for Ventricular Tachycardia Ablation. JACC. Clinical electrophysiology 2020 9 6 (9): 1103-1114. Ebert Micaela, Wijnmaalen Adrianus P, de Riva Marta, Trines Serge A, Androulakis Alexander F A, Glashan Claire A, Schalij Martin J, Peter van Tintelen J, Jongbloed Jan D H, Zeppenfeld Kat |
| Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance. Diabetes research and clinical practice 2020 9 169 108461. Hosoe Jun, Miya Fuyuki, Kadowaki Hiroko, Fujiwara Toyofumi, Suzuki Ken, Kato Takashi, Waki Hironori, Sasako Takayoshi, Aizu Katsuya, Yamamura Natsumi, Sasaki Fusako, Kurano Makoto, Hara Kazuo, Tanaka Masaki, Ishiura Hiroyuki, Tsuji Shoji, Honda Kenjiro, Yoshimura Jun, Morishita Shinichi, Matsuzawa Fumiko, Aikawa Sei-Ichi, Boroevich Keith A, Nangaku Masaomi, Okada Yukinori, Tsunoda Tatsuhiko, Shojima Nobuhiro, Yamauchi Toshimasa, Kadowaki Takas |
| Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy. Clinical diabetes and endocrinology 2020 7 6 13. Soyaltin Utku Erdem, Simsir Ilgin Yildirim, Akinci Baris, Altay Canan, Adiyaman Suleyman Cem, Lee Kristen, Onay Huseyin, Oral Elif Ariog |
| Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction. Cells 2020 6 9 (6): . Cappelletti Cristina, Tramacere Irene, Cavalcante Paola, Schena Elisa, Politano Luisa, Carboni Nicola, Gambineri Alessandra, D'Amico Adele, Ruggiero Lucia, Ricci Giulia, Siciliano Gabriele, Boriani Giuseppe, Mongini Tiziana Enrica, Vercelli Liliana, Biagini Elena, Ziacchi Matteo, D'Apice Maria Rosaria, Lattanzi Giovanna, Mantegazza Renato, Maggi Lorenzo, Bernasconi P |
| Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. Orphanet journal of rare diseases 2020 6 15 (1): 160. Liang Wen-Chen, Jong Yuh-Jyh, Wang Chien-Hua, Wang Chen-Hua, Tian Xia, Chen Wan-Zi, Kan Tzu-Min, Minami Narihiro, Nishino Ichizo, Wong Lee-Jun |
| 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 |
| DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy. BMC medical genetics 2020 2 21 (1): 19. Heliö Krista, Kangas-Kontio Tiia, Weckström Sini, Vanninen Sari U M, Aalto-Setälä Katriina, Alastalo Tero-Pekka, Myllykangas Samuel, Heliö Tiina M, Koskenvuo Juha |
| Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis. Circulation. Genomic and precision medicine 2021 7 14 (4): e003250. Seidel Franziska, Holtgrewe Manuel, Al-Wakeel-Marquard Nadya, Opgen-Rhein Bernd, Dartsch Josephine, Herbst Christopher, Beule Dieter, Pickardt Thomas, Klingel Karin, Messroghli Daniel, Berger Felix, Schubert Stephan, Kühnisch Jirko, Klaassen Sabi |
| An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report. American journal of medical genetics. Part A 2021 Oct . Gao Shanshan, Mumme-Monheit Abigail, Chen Suet Nee, Spector Elaine B, Slavov Dobromir, Baralle Francisco E, Bristow Michael R, Mestroni Luisa, Taylor Matthew R G, |
| Cardiac phenotype in familial partial lipodystrophy. Clinical endocrinology 2021 1 94 (6): 1043-1053. Eldin Abdelwahab Jalal, Akinci Baris, da Rocha Andre Monteiro, Meral Rasimcan, Simsir Ilgin Yildirim, Adiyaman Suleyman Cem, Ozpelit Ebru, Bhave Nicole, Gen Ramazan, Yurekli Banu, Ozdemir Kutbay Nilufer, Siklar Zeynep, Neidert Adam H, Hench Rita, Tayeh Marwan K, Innis Jeffrey W, Jalife Jose, Oral Hakan, Oral Elif |
| 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 |
| LMNA Variants and Risk of Adult-Onset Cardiac Disease. Journal of the American College of Cardiology 2022 Jul 80 (1): 50-59. Lazarte Julieta, Jurgens Sean J, Choi Seung Hoan, Khurshid Shaan, Morrill Valerie N, Weng Lu-Chen, Nauffal Victor, Pirruccello James P, Halford Jennifer L, Hegele Robert A, Ellinor Patrick T, Lunetta Kathryn L, Lubitz Steven |
| Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA cardiology 2022 5 7 (7): 723-732. Patel Aniruddh P, Dron Jacqueline S, Wang Minxian, Pirruccello James P, Ng Kenney, Natarajan Pradeep, Lebo Matthew, Ellinor Patrick T, Aragam Krishna G, Khera Amit |
| Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights. Frontiers in cardiovascular medicine 2022 4 9 823717. Pessente Gabrielle D'Arezzo, Sacilotto Luciana, Calil Zaine Oliveira, Olivetti Natalia Quintella Sangiorgi, Wulkan Fanny, de Oliveira Théo Gremen Mimary, Pedrosa Anísio Alexandre Andrade, Wu Tan Chen, Hachul Denise Tessariol, Scanavacca Maurício Ibrahim, Krieger José Eduardo, Darrieux Francisco Carlos da Costa, Pereira Alexandre da Cos |
| 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 |
| Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. The Journal of clinical endocrinology and metabolism 2022 3 107 (7): e3048-e3057. Oheim Ralf, Tsourdi Elena, Seefried Lothar, Beller Gisela, Schubach Max, Vettorazzi Eik, Stürznickel Julian, Rolvien Tim, Ehmke Nadja, Delsmann Alena, Genest Franca, Krüger Ulrike, Zemojtel Tomasz, Barvencik Florian, Schinke Thorsten, Jakob Franz, Hofbauer Lorenz C, Mundlos Stefan, Kornak U |
| Role of genetic testing in young patients with idiopathic atrioventricular conduction disease. 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 2022 11 25 (2): 643-650. Auricchio Angelo, Demarchi Andrea, Özkartal Tardu, Campanale Daniela, Caputo Maria Luce, di Valentino Marcello, Menafoglio Andrea, Regoli Francois, Facchini Marco, Del Bufalo Alessandro, Foglia Pietro, Ferrari Nicola, Bomio Fulvio, Medeiros-Domingo Argelia, Moccetti Tiziano, Pedrazzini Giovanni B, Klersy Catherine, Conte Giul |
| Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort 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 2022 11 25 (2): 634-642. Rootwelt-Norberg Christine, Skjølsvik Eystein T, Chivulescu Monica, Bogsrud Martin P, Ribe Margareth P, Aabel Eivind W, Beitnes Jan Otto, Brekke Pål H, Håland Trine F, Hasselberg Nina E, Lie Øyvind H, Haugaa Kristina |
| Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center. International journal of molecular sciences 2023 8 24 (15): . Aikaterini Kountouri, Emmanouil Korakas, Eirini Maratou, Ignatios Ikonomidis, Konstantinos Balampanis, Stavros Liatis, Nikolaos Tentolouris, Panagiotis Toulas, Foteini Kousathana, Christophoros Giatzakis, George D Dimitriadis, Vaia Lambadia |
| Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum. medRxiv : the preprint server for health sciences 2023 7 . David S M Lee, John S DePaolo, Krishna G Aragam, Kiran Biddinger, Mitchell Conery, Ozan Dilitikas, Lily Hoffman-Andrews, Renae L Judy, Atlas Khan, Iftikhar Kulo, Mugan J Puckelwartz, Nosheen Reza, Benjamin A Satterfield, Pankhuri Singhal, , Zoltan P Arany, Thomas P Cappola, Eric Carruth, Sharlene M Day, Ron Do, Christopher M Haggarty, Jacob Joseph, Elizabeth McNally, Girish Nadkarni, Anjali T Owens, Daniel J Rader, Marylyn D Ritchie, Yan Sun, Benjamin F Voight, Michael G Levin, Scott M Damrau |
| LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation. Frontiers in genetics 2023 4 14 1135438. Cesar Sergi, Coll Monica, Fiol Victoria, Fernandez-Falgueras Anna, Cruzalegui Jose, Iglesias Anna, Moll Isaac, Perez-Serra Alexandra, Martínez-Barrios Estefanía, Ferrer-Costa Carles, Del Olmo Bernat, Puigmulè Marta, Alcalde Mireia, Lopez Laura, Pico Ferran, Berrueco Rubén, Brugada Josep, Zschaeck Irene, Natera-de Benito Daniel, Carrera-García Laura, Exposito-Escudero Jessica, Ortez Carlos, Nascimento Andrés, Brugada Ramon, Sarquella-Brugada Georgia, Campuzano Osc |
| Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy. Circulation. Genomic and precision medicine 2023 3 e003788. Stroeks Sophie L V M, Lunde Ida G, Hellebrekers Debby M E I, Claes Godelieve R F, Wakimoto Hiroko, Gorham Joshua, Krapels Ingrid P C, Vanhoutte Els K, van den Wijngaard Arthur, Henkens Michiel T H M, Raafs Anne G, Sikking Maurits A, Broers Jos L V, Nabben Miranda, Jones Elizabeth A V, Heymans Stephane R B, Brunner Han G, Verdonschot Job A |
| High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients. American heart journal 2023 12 . Xin Chen, Guanhao Luo, Hezhi Li, Jianhong Zheng, Qianhuan Zhang, Hongtao Liao, Xianzhang Zhan, Wei Wei, Yuanhong Liang, Hai Deng, Xianhong Fang, Shulin Wu, Yumei Xue, Yang L |
| Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv : the preprint server for biology 2023 12 . Zinan Zhou, Junho Kim, August Yue Huang, Matthew Nolan, Junseok Park, Ryan Doan, Taehwan Shin, Michael B Miller, Brian Chhouk, Katherine Morillo, Rebecca C Yeh, Connor Kenny, Jennifer E Neil, Chao-Zong Lee, Takuya Ohkubo, John Ravits, Olaf Ansorge, Lyle W Ostrow, Clotilde Lagier-Tourenne, Eunjung Alice Lee, Christopher A Wal |
| Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients. Orphanet journal of rare diseases 2023 11 18 (1): 356. Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-Ze Zheng, Liang-Liang Qiu, Zhi-Xian Ye, Hai-Zhu Chen, Min-Ting Lin, Ning Wang, Zhi-Qiang Wa |
| Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India. Neurogenetics 2024 8 . Tanushree Chawla, Saraswati Nashi, Dipti Baskar, Kiran Polavarapu, Seena Vengalil, Mainak Bardhan, Veeramani Preethish-Kumar, Ramya Sukrutha, Gopikrishnan Unnikrishnan, Akshata Huddar, Hansashree Padmanabha, Ram Murthy Anjanappa, Nandeesh Bevinahalli, Vidya Nittur, Manoj Rajanna, Gautham Arunachal Udupi, Atchayaram Nali |
| A cohort analysis of familial partial lipodystrophy from two Mediterranean countries. Diabetes, obesity & metabolism 2024 8 . Antía Fernández-Pombo, Ilgin Yildirim Simsir, Sofía Sánchez-Iglesias, Samim Ozen, Ana I Castro, Tahir Atik, Lourdes Loidi, Huseyin Onay, Teresa Prado-Moraña, Cem Adiyaman, Everardo Josué Díaz-López, Canan Altay, Maria José Ginzo-Villamayor, Baris Akinci, David Araújo-Vil |
| Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation. JACC. Clinical electrophysiology 2024 7 . Juan Pablo Ochoa, Maria Ángeles Espinosa, Jara Gayan-Ordas, Andrea Fernández-Valledor, María Gallego-Delgado, Coloma Tirón, Adrián Lozano-Ibañez, José Manuel García-Pinilla, José F Rodríguez-Palomares, José María Larrañaga-Moreira, Helena Llamas-Gómez, Tomas Ripoll-Vera, Aitana Braza-Boïls, Silvia Vilches, Irene Méndez, Ramón Bascompte-Claret, Ana García-Álvarez, Eduardo Villacorta, Ignacio Fernandez-Lozano, Enrique Lara-Pezzi, Pablo Garcia-Pav |
| Electrophysiological Phenotype-Genotype Study of Sustained Monomorphic Ventricular Tachycardia in Inherited, High Arrhythmic Risk, Left Ventricular Cardiomyopathy. Circulation. Arrhythmia and electrophysiology 2024 11 e013145. Eva Cabrera-Borrego, Francisco J Bermúdez-Jiménez, Alessio Gasperetti, Harikrishna S Tandri, Pablo J Sánchez-Millán, Manuel Molina-Lerma, Ivo Roca-Luque, Sara Vázquez-Calvo, Paolo Compagnucci, Michela Casella, Claudio Tondo, Petr Peichl, Giovani Peretto, Elena Paiotti, Ardan M Saguner, Pablo García-Pavía, Nerea Mora-Ayestarán, José M Larrañaga-Moreira, Pablo Fernández de-Aspe, Roberto Barriales-Villa, Carmen Muñoz-Esparza, Esther Zorio, Julia Martínez-Solé, Luis Lopes, Johanna B Tonko, Pier Lambiase, Perry M Elliott, Moisés Rodríguez-Mañero, Victoria Cañadas-Godoy, Sebastian Giacoman, Miguel Álvarez-López, Rosa Macías-Ruiz, W J McKenna, Luis Tercedor-Sánchez, Juan Jiménez-Jáim |
| Characterization of cardiac involvement in patients with LMNA splice-site mutation-related dilated cardiomyopathy and sudden cardiac death. Frontiers in genetics 2024 1 14 1291411. Xuebin Ling, Yanjun Hou, Xingyu Jia, Youling Lan, Xiaoping Wu, Julan Wu, Wei Jie, Hui Liu, Shan Huang, Zhenling Wan, Tianfa Li, Junli Guo, Tiebiao Lia |
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