Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: 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 |
Common susceptibility variants examined for association with dilated cardiomyopathy. Annals of human genetics 2010 Mar 74 (2): 110-6. Rampersaud Evadnie, Kinnamon Daniel D, Hamilton Kara, Khuri Sawsan, Hershberger Ray E, Martin Eden |
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 |
Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. Progress in pediatric cardiology 2011 Jan 31 (1): 39-47. Rampersaud Evadnie, Siegfried Jill D, Norton Nadine, Li Duanxiang, Martin Eden, Hershberger Ray |
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PloS one 2011 6 (12): 12. Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Ozcelik C |
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 |
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. Polish archives of internal medicine 2020 Jan . Lipari Martina, Wypasek Ewa, Karpi?ski Marek, Tomkiewicz-Pajak Lidia, Laino Luigi, Binni Francesco, Giannarelli Diana, Rubi? Pawe?, Petkow-Dimitrow Pawe?, Undas Anetta, Grammatico Paola, Bottillo Ire |
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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