Human Genome Epidemiology Literature Finder
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Query Trace: LMNA[original query] |
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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, |
A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program. medRxiv : the preprint server for health sciences 2021 10 . Verma Anurag, Tsao Noah, Thomann Lauren, Ho Yuk-Lam, Iyengar Sudha, Luoh Shiuh-Wen, Carr Rotonya, Crawford Dana, Efird Jimmy T, Huffman Jennifer, Hung Adriana, Ivey Kerry, Levin Michael, Lynch Julie, Natarajan Pradeep, Pyarajan Saiju, Bick Alexander, Costa Lauren, Genovese Giulio, Hauger Richard, Madduri Ravi, Pathak Gita, Polimanti Renato, Voight Benjamin, Vujkovic Marijana, Zekavat Maryam, Zhao Hongyu, Ritchie Marylyn D, , Chang Kyong-Mi, Cho Kelly, Casas Juan P, Tsao Philip S, Gaziano J Michael, O'Donnell Christopher, Damrauer Scott, Liao Katheri |
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 |
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics. Circulation. Genomic and precision medicine 2022 9 15 (5): e003675. Nafissi Navid A, Abdulrahim Jawan W, Kwee Lydia Coulter, Coniglio Amanda C, Kraus William E, Piccini Jonathan P, Daubert James P, Sun Albert Y, Shah Svati |
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 |
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 |
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 variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study. Annals of translational medicine 2022 3 10 (3): 129. Shen Cheng, Xu Lei, Sun Xiaoning, Sun Aijun, Ge Jun |
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 |
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy. Circulation. Genomic and precision medicine 2022 12 e003480. Tremblay-Gravel Maxime, Ichimura Kenzo, Picard Kermshlise, Kawano Yumeko, Dries Annika M, Haddad Francois, Lakdawala Neal K, Wheeler Matthew T, Parikh Victoria |
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register. Diabetologia 2022 11 66 (3): 438-449. Harsunen Minna, Kettunen Jarno L T, Härkönen Taina, Dwivedi Om, Lehtovirta Mikko, Vähäsalo Paula, Veijola Riitta, Ilonen Jorma, Miettinen Päivi J, Knip Mikael, Tuomi Tiinamai |
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 |
Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (LMNA/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (TMPO/Arg690Cys). International journal of molecular sciences 2022 11 23 (21): . González-Garrido Antonia, Rosas-Madrigal Sandra, Rojo-Domínguez Arturo, Arellanes-Robledo Jaime, López-Mora Enrique, Carnevale Alessandra, Arregui Leticia, Rosendo-Gutiérrez Rigoberto, Romero-Hidalgo Sandra, Villarreal-Molina María Tere |
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 |
Late gadolinium enhancement distribution patterns in non-ischemic dilated cardiomyopathy: Genotype-phenotype correlation. European heart journal. Cardiovascular Imaging 2023 8 . Fernando de Frutos, Juan Pablo Ochoa, Ana Isabel Fernández, María Gallego-Delgado, Marina Navarro-Peñalver, Guillem Casas, María Teresa Basurte, José María Larrañaga-Moreira, María Victoria Mogollón, Ainhoa Robles-Mezcua, Pablo Elpidio García-Granja, Vicente Climent, Julián Palomino-Doza, Ana García-Álvarez, María Brion, Ramón Brugada, Juan Jiménez-Jáimez, Antoni Bayes-Genis, Tomas Ripoll-Vera, María Luisa Peña-Peña, José F Rodríguez-Palomares, Josefa Gonzalez-Carrillo, Eduardo Villacorta, Maria Angeles Espinosa, Pablo Garcia-Pavia, Jesus G Mirel |
Cardiac fludeoxyglucose-18 positron emission tomography in genotype-positive arrhythmogenic cardiomyopathy. International journal of cardiology 2023 7 131173. Raquel Neves, Andrew S Tseng, Ramin Garmany, Angela L Fink, Christopher J McLeod, Leslie T Cooper, Ciorsti J MacIntyre, Andrew C Homb, Andrew N Rosenbaum, John P Bois, Omar F Abou Ezzeddine, Konstantinos C Siontis, Naveen L Pereira, Michael J Ackerman, John R Giudices |
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 |
Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing. Journal of translational medicine 2023 7 21 (1): 476. Hong Lian, Shen Song, Wenzheng Chen, Anteng Shi, Haobin Jiang, Shengshou |
The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation-Related Lipodystrophy. Advanced biology 2023 6 e2200301. Cheng Xiao, Jieying Liu, Chunru Yang, Xiaojun Zhai, Peng Liu, Xinhua Xiao, Miao |
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 |
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China. Pediatric research 2024 1 . Jingjing Wang, Qinmei Yu, Xiaoxiao Tang, Leslie B Gordon, Junyi Chen, Buchun Jiang, Guoping Huang, Haidong Fu, Jianqin Qian, Zhihong Liu, Jianhua M |
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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- Page last updated:Apr 16, 2024
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