Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Disease and CSRP3[original query] |
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Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Human mutation 2009 Mar 30 (3): 363-70. Andersen Paal Skytt, Havndrup Ole, Hougs Lotte, Sørensen Karina M, Jensen Morten, Larsen Lars Allan, Hedley Paula, Thomsen Alex Rojas Bie, Moolman-Smook Johanna, Christiansen Michael, Bundgaard Henni |
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clinical and translational science 2008 May 1 (1): 21-6. Hershberger Ray E, Parks Sharie B, Kushner Jessica D, Li Duanxiang, Ludwigsen Susan, Jakobs Petra, Nauman Deirdre, Burgess Donna, Partain Julie, Litt Micha |
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. European journal of human genetics : EJHG 2009 Oct 17 (10): 1241-9. Møller Daniel Vega, Andersen Paal Skytt, Hedley Paula, Ersbøll Mads Kristian, Bundgaard Henning, Moolman-Smook Johanna, Christiansen Michael, Køber La |
A common MLP (muscle LIM protein) variant is associated with cardiomyopathy. Circulation research 2010 1 106 (4): 695-704. Knöll Ralph, Kostin Sawa, Klede Stefanie, Savvatis Kostas, Klinge Lars, Stehle Ina, Gunkel Sylvia, Kötter Sebastian, Babicz Kamila, Sohns Melanie, Miocic Snjezana, Didié Michael, Knöll Gudrun, Zimmermann Wolfram Hubertus, Thelen Paul, Bickeböller Heike, Maier Lars S, Schaper Wolfgang, Schaper Jutta, Kraft Theresia, Tschöpe Carsten, Linke Wolfgang A, Chien Kenneth |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. BMC medical genetics 2012 13 (1): 17. Santos Susana, Marques Vanda, Pires Marina, Silveira Leonor, Oliveira Helena, Lança Vasco, Brito Dulce, Madeira Hugo, Esteves J Fonseca, Freitas António, Carreira Isabel M, Gaspar Isabel M, Monteiro Carolino, Fernandes Alexandra |
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals. European journal of medical genetics 2020 Oct 63 (12): 104079. Salazar-Mendiguchía Joel, Barriales-Villa Roberto, Lopes Luis R, Ochoa Juan P, Rodríguez-Vilela Alejandro, Palomino-Doza Julián, Larrañaga-Moreira José M, Cicerchia Marcos, Cárdenas-Reyes Ivonne, García-Giustiniani Diego, Brögger Noël, Fernández Germán, García Soledad, Santiago Lisi, Vélez Paula, Ortiz-Genga Martín, Elliott Perry M, Monserrat Loren |
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy. European heart journal 2023 7 . Mona Allouba, Roddy Walsh, Alaa Afify, Mohammed Hosny, Sarah Halawa, Aya Galal, Mariam Fathy, Pantazis I Theotokis, Ahmed Boraey, Amany Ellithy, Rachel Buchan, Risha Govind, Nicola Whiffin, Shehab Anwer, Ahmed ElGuindy, James S Ware, Paul J R Barton, Magdi Yacoub, Yasmine Agu |
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