Human Genome Epidemiology Literature Finder
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Records 1 - 25 (of 25 Records) |
| Query Trace: Disease and PLN[original query] |
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| Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population. Biochemical genetics 2005 Dec 43 (11-12): 637-42. Kalemi Theodora, Efthimiadis Georgios, Zioutas Dimitrios, Lambropoulos Alexandros, Mitakidou Anastasia, Giannakoulas Georgios, Vassilikos Vassilios, Karvounis Haralambos, Kotsis Alexandros, Parharidis Georgios, Louridas Georgi |
| Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. Journal of the American College of Cardiology 2006 Oct 48 (7): 1396-8. DeWitt Megan M, MacLeod Heather M, Soliven Betty, McNally Elizabeth |
| No evidence for an association between the -36A>C phospholamban gene polymorphism and a worse prognosis in heart failure. BMC cardiovascular disorders 2009 9 (1): 33. Santos Diogo G B, Medeiros Alessandra, Brum Patrícia C, Mill José G, Mansur Alfredo J, Krieger José E, Pereira Alexandre |
Genome-wide association analysis identifies multiple loci related to resting heart rate.
Human molecular genetics 2010 Oct 19 (19): 3885-94. Eijgelsheim Mark, Newton-Cheh Christopher, Sotoodehnia Nona, de Bakker Paul I W, Müller Martina, Morrison Alanna C, Smith Albert V, Isaacs Aaron, Sanna Serena, Dörr Marcus, Navarro Pau, Fuchsberger Christian, Nolte Ilja M, de Geus Eco J C, Estrada Karol, Hwang Shih-Jen, Bis Joshua C, Rückert Ina-Maria, Alonso Alvaro, Launer Lenore J, Hottenga Jouke Jan, Rivadeneira Fernando, Noseworthy Peter A, Rice Kenneth M, Perz Siegfried, Arking Dan E, Spector Tim D, Kors Jan A, Aulchenko Yurii S, Tarasov Kirill V, Homuth Georg, Wild Sarah H, Marroni Fabio, Gieger Christian, Licht Carmilla M, Prineas Ronald J, Hofman Albert, Rotter Jerome I, Hicks Andrew A, Ernst Florian, Najjar Samer S, Wright Alan F, Peters Annette, Fox Ervin R, Oostra Ben A, Kroemer Heyo K, Couper David, Völzke Henry, Campbell Harry, Meitinger Thomas, Uda Manuela, Witteman Jacqueline C M, Psaty Bruce M, Wichmann H-Erich, Harris Tamara B, Kääb Stefan, Siscovick David S, Jamshidi Yalda, Uitterlinden André G, Folsom Aaron R, Larson Martin G, Wilson James F, Penninx Brenda W, Snieder Harold, Pramstaller Peter P, van Duijn Cornelia M, Lakatta Edward G, Felix Stephan B, Gudnason Vilmundur, Pfeufer Arne, Heckbert Susan R, Stricker Bruno H Ch, Boerwinkle Eric, O'Donnell Christopher |
| PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. American heart journal 2011 Jan 161 (1): 165-71. Landstrom Andrew P, Adekola Babatunde A, Bos J Martijn, Ommen Steve R, Ackerman Michael |
| Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland. Kardiologia polska 2011 69 (2): 134-7. Petkow-Dimitrow Pawe?, Kie?-Wilk Beata, Kwa?niak Ma?gorzata, Miko?ajczyk Magdalena, Dembi?ska-Kie? Aldo |
| Mutations in the human phospholamban gene in patients with heart failure. American heart journal 2011 Dec 162 (6): 1088-1095.e1. Medeiros Alessandra, Biagi Diogo G, Sobreira Tiago J P, de Oliveira Paulo Sérgio L, Negrão Carlos Eduardo, Mansur Alfredo J, Krieger José Eduardo, Brum Patricia C, Pereira Alexandre |
| Genetic testing for dilated cardiomyopathy in clinical practice. Journal of cardiac failure 2012 Apr 18 (4): 296-303. Lakdawala Neal K, Funke Birgit H, Baxter Samantha, Cirino Allison L, Roberts Amy E, Judge Daniel P, Johnson Nicole, Mendelsohn Nancy J, Morel Chantal, Care Melanie, Chung Wendy K, Jones Carolyn, Psychogios Apostolos, Duffy Elizabeth, Rehm Heidi L, White Emily, Seidman J G, Seidman Christine E, Ho Carolyn |
| 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 |
| A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations. BMC medical genetics 2015 16 21. Truszkowska Gra?yna T, Bili?ska Zofia T, Kosi?ska Joanna, ?leszycka Justyna, Rydzanicz Ma?gorzata, Sobieszcza?ska-Ma?ek Ma?gorzata, Franaszczyk Maria, Bili?ska Maria, Stawi?ski Piotr, Michalak Ewa, Ma?ek ?ukasz A, Chmielewski Przemys?aw, Foss-Nieradko Bogna, Machnicki Marcin M, Stok?osa Tomasz, Poni?ska Joanna, Szumowski ?ukasz, Grzybowski Jacek, Piwo?ski Jerzy, Drygas Wojciech, Zieli?ski Tomasz, P?oski Raf |
| Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies. Scientific reports 2016 6 22235. Fish Maryam, Shaboodien Gasnat, Kraus Sarah, Sliwa Karen, Seidman Christine E, Burke Michael A, Crotti Lia, Schwartz Peter J, Mayosi Bongani |
| Sudden Cardiac Arrest and Rare Genetic Variants in the Community. Circulation. Cardiovascular genetics 2016 Jan . Milano Annalisa, Blom Marieke T, Lodder Elisabeth M, van Hoeijen Daniel A, Barc Julien, Koopmann Tamara T, Bardai Abdennasser, Beekman Leander, Lichtner Peter, van den Berg Maarten P, Wilde Arthur A M, Bezzina Connie R, Tan Hanno |
| Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PloS one 2017 12 (8): e0181465. Mademont-Soler Irene, Mates Jesus, Yotti Raquel, Espinosa Maria Angeles, Pérez-Serra Alexandra, Fernandez-Avila Ana Isabel, Coll Monica, Méndez Irene, Iglesias Anna, Del Olmo Bernat, Riuró Helena, Cuenca Sofía, Allegue Catarina, Campuzano Oscar, Picó Ferran, Ferrer-Costa Carles, Álvarez Patricia, Castillo Sergio, Garcia-Pavia Pablo, Gonzalez-Lopez Esther, Padron-Barthe Laura, Díaz de Bustamante Aranzazu, Darnaude María Teresa, González-Hevia José Ignacio, Brugada Josep, Fernandez-Aviles Francisco, Brugada Ram |
| 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 |
| Effect of Ascertainment Bias on Estimates of Patient Mortality in Inherited Cardiac Diseases. Circulation. Genomic and precision medicine 2018 10 11 (10): e001797. Nannenberg Eline A, van Rijsingen Ingrid A W, van der Zwaag Paul A, van den Berg Maarten P, van Tintelen J Peter, Tanck Michael W T, Ackerman Michael J, Wilde Arthur A M, Christiaans Im |
| A PLN nonsense variant causes severe dilated cardiomyopathy in a novel autosomal recessive inheritance mode. International journal of cardiology 2019 1 279 122-125. Li Zongzhe, Chen Peng, Xu Jinchao, Yu Bo, Li Xianqing, Wang Dao Wu, Wang Dao W |
| 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 |
| Early Mechanical Alterations in Phospholamban Mutation Carriers: Identifying Subclinical Disease Before Onset of Symptoms. JACC. Cardiovascular imaging 2020 11 14 (5): 885-896. Taha Karim, Te Rijdt Wouter P, Verstraelen Tom E, Cramer Maarten J, de Boer Rudolf A, de Bruin-Bon Rianne H A C M, Bouma Berto J, Asselbergs Folkert W, Wilde Arthur A M, van den Berg Maarten P, Teske Arco |
| Rationale and design of the PHOspholamban RElated CArdiomyopathy intervention STudy (i-PHORECAST). Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2021 Jun . Te Rijdt W P, Hoorntje E T, de Brouwer R, Oomen A, Amin A, van der Heijden J F, Karper J C, Westenbrink B D, Silljé H H W, Te Riele A S J M, Wiesfeld A C P, van Gelder I C, Willems T P, van der Zwaag P A, van Tintelen J P, Hillege J H, Tan H L, van Veldhuisen D J, Asselbergs F W, de Boer R A, Wilde A A M, van den Berg M |
| Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (4): 839-850. Koh Hyun Yong, Haghighi Alireza, Keywan Christine, Alexandrescu Sanda, Plews-Ogan Erin, Haas Elisabeth A, Brownstein Catherine A, Vargas Sara O, Haynes Robin L, Berry Gerard T, Holm Ingrid A, Poduri Annapurna H, Goldstein Richard |
| The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
| Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies. International journal of molecular sciences 2023 11 24 (21): . Stephanie M van der Voorn, Esmée van Drie, Virginnio Proost, Kristina Dimitrova, Netherlands Acm/Pln Registry, Robert F Ernst, Cynthia A James, Crystal Tichnell, Brittney Murray, Hugh Calkins, Ardan M Saguner, Firat Duru, Patrick T Ellinor, Connie R Bezzina, Sean J Jurgens, J Peter van Tintelen, Toon A B van Ve |
| Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases. Scientific reports 2023 10 13 (1): 16769. Ishani Mhatre, Habiba Abdelhalim, William Degroat, Shreya Ashok, Bruce T Liang, Zeeshan Ahm |
| A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data. International journal of molecular sciences 2024 6 25 (11): . Maria Bueno Marinas, Marco Cason, Riccardo Bariani, Rudy Celeghin, Monica De Gaspari, Serena Pinci, Alberto Cipriani, Ilaria Rigato, Alessandro Zorzi, Stefania Rizzo, Gaetano Thiene, Martina Perazzolo Marra, Domenico Corrado, Cristina Basso, Barbara Bauce, Kalliopi Pilich |
| 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 |
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