HuGE Literature Finder
Records 1-15
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Identification of sarcomeric variants in probands with a clinical diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).
Journal of cardiovascular electrophysiology 2018 Apr . Murray Brittney, Hoorntje Edgar T, Te Riele Anneline S J M, Tichnell Crystal, van der Heijden Jeroen F, Tandri Harikrishna, van den Berg Maarten P, Jongbloed Jan D H, Wilde Arthur A M, Hauer Richard N W, Calkins Hugh, Judge Daniel P, James Cynthia A, van Tintelen J Peter, Dooijes Denn |
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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 |
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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 |
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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 |
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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 |
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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 |
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A novel custom resequencing array for dilated cardiomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics 2010 May 12 (5): 268-78. Zimmerman Rebekah S, Cox Stephanie, Lakdawala Neal K, Cirino Allison, Mancini-DiNardo Debora, Clark Eugene, Leon Annette, Duffy Elizabeth, White Emily, Baxter Samantha, Alaamery Manal, Farwell Lisa, Weiss Scott, Seidman Christine E, Seidman Jonathan G, Ho Carolyn Y, Rehm Heidi L, Funke Birgit |
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The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
European journal of heart failure 2009 Nov 11 (11): 1031-5. Møller Daniel Vega, Pham Tam Thanh, Gustafsson Finn, Hedley Paula, Ersbøll Mads Kristian, Bundgaard Henning, Andersen Claus B, Torp-Pedersen Christian, Køber Lars, Christiansen Micha |
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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 |
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A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids.
Human mutation 2008 May 29 (5): 640-7. Haghighi Kobra, Chen Guoli, Sato Yoji, Fan Guo-Chang, He Suiwen, Kolokathis Fotis, Pater Luke, Paraskevaidis Ioannis, Jones W Keith, Dorn Gerald W, Kremastinos Dimitrios Th, Kranias Evangelia |
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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 |
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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 |
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[Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2005 Sep 36 (5): 683-5. Chen Xin-Yun, Rao Li, Zhou Bin, Zhang Lin, Chen Hang, Wang Yu-Ping, Wang B |
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[Association between mutation of phospholamban gene and dilated cardiomyopathy].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2004 Sep 26 (5): 599-602. Zhao Chun-Xia, Cui Ying-Hua, Zhu Zhi-Hui, Wang Dao-W |
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Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.
Biochemical and biophysical research communications 2003 Apr 304 (1): 1-4. Minamisawa Susumu, Sato Yoji, Tatsuguchi Yuriko, Fujino Tomofumi, Imamura Shin-ichiro, Uetsuka Yoshio, Nakazawa Makoto, Matsuoka Rumi |
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- Page last updated:Aug 05, 2020
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