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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and JUP[original query]
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
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 2010 Jun 12 (6): 861-8.
Fressart Veronique, Duthoit Guillaume, Donal Erwan, Probst Vincent, Deharo Jean-Claude, Chevalier Philippe, Klug Didier, Dubourg Olivier, Delacretaz Etienne, Cosnay Pierre, Scanu Patrice, Extramiana Fabrice, Keller Dagmar, Hidden-Lucet Françoise, Simon Françoise, Bessirard Vanessa, Roux-Buisson Nathalie, Hebert Jean-Louis, Azarine Arshid, Casset-Senon Daniele, Rouzet François, Lecarpentier Yves, Fontaine Guy, Coirault Catherine, Frank Robert, Hainque Bernard, Charron Philip
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Heart rhythm : the official journal of the Heart Rhythm Society 2010 Jan 7 (1): 22-9.
Bauce Barbara, Nava Andrea, Beffagna Giorgia, Basso Cristina, Lorenzon Alessandra, Smaniotto Gessica, De Bortoli Marzia, Rigato Ilaria, Mazzotti Elisa, Steriotis Alexandros, Marra Martina Perazzolo, Towbin Jeffry A, Thiene Gaetano, Danieli Gian Antonio, Rampazzo Alessand
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Circulation research 2014 Oct 115 (10): 884-96.
Glessner Joseph T, Bick Alexander G, Ito Kaoru, Homsy Jason G, Rodriguez-Murillo Laura, Fromer Menachem, Mazaika Erica, Vardarajan Badri, Italia Michael, Leipzig Jeremy, DePalma Steven R, Golhar Ryan, Sanders Stephan J, Yamrom Boris, Ronemus Michael, Iossifov Ivan, Willsey A Jeremy, State Matthew W, Kaltman Jonathan R, White Peter S, Shen Yufeng, Warburton Dorothy, Brueckner Martina, Seidman Christine, Goldmuntz Elizabeth, Gelb Bruce D, Lifton Richard, Seidman Jonathan, Hakonarson Hakon, Chung Wendy
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.
PloS one 2014 9 (6): e100560.
Alcalde Mireia, Campuzano Oscar, Berne Paola, García-Pavía Pablo, Doltra Ada, Arbelo Elena, Sarquella-Brugada Georgia, Iglesias Anna, Alonso-Pulpon Luis, Brugada Josep, Brugada Ram
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
European journal of human genetics : EJHG 2018 5 26 (9): 1312-1318.
Hall Charlotte L, Sutanto Henry, Dalageorgou Chrysoula, McKenna William John, Syrris Petros, Futema Mar
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Scientific reports 2020 12 10 (1): 21622.
Vahidnezhad Hassan, Youssefian Leila, Faghankhani Masoomeh, Mozafari Nikoo, Saeidian Amir Hossein, Niaziorimi Fatemeh, Abdollahimajd Fahimeh, Sotoudeh Soheila, Rajabi Fateme, Mirsafaei Liaosadat, Sani Zahra Alizadeh, Liu Lu, Guy Alyson, Zeinali Sirous, Kariminejad Ariana, Ho Reginald T, McGrath John A, Uitto Jou
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