Cardiovascular medicine

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
Ahmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, John Mitchell, Serge Melançon, Natascia Anastasio, Kevin C H Ha, Jacek Majewski, David S Rosenblatt, Nancy Braverman

Journal of Medical Genetics Sep 2011, 48 (9) 602-605; DOI: 10.1136/jmedgenet-2011-100230
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice
Siv Fokstuen, Analia Munoz, Paola Melacini, Sabino Iliceto, Andreas Perrot, Cemil Özcelik, Xavier Jeanrenaud, Claudine Rieubland, Martin Farr, Lothar Faber, Ulrich Sigwart, François Mach, René Lerch, Stylianos E Antonarakis, Jean-Louis Blouin

Journal of Medical Genetics Aug 2011, 48 (8) 572-576; DOI: 10.1136/jmg.2010.083345
Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients
D Hunter Best, Cecily Vaughn, Jamie McDonald, Kristy Damjanovich, James R Runo, Jason M Chibuk, Pinar Bayrak-Toydemir

Journal of Medical Genetics May 2011, 48 (5) 358-360; DOI: 10.1136/jmg.2010.088286
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
Ronen Spiegel, Morad Khayat, Stavit A Shalev, Yoseph Horovitz, Hanna Mandel, Eli Hershkovitz, Flora Barghuti, Avraham Shaag, Ann Saada, Stanley H Korman, Orly Elpeleg, Ido Yatsiv

Journal of Medical Genetics Mar 2011, 48 (3) 177-182; DOI: 10.1136/jmg.2010.084608
Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population
Mi-Hyun Park, NamHee Kim, Jong-Young Lee, Hyun-Young Park

Journal of Medical Genetics Jan 2011, 48 (1) 10-15; DOI: 10.1136/jmg.2010.081000
CDKN2BAS is associated with periodontitis in different European populations and is activated by bacterial infection
Arne S Schaefer, Gesa M Richter, Henrik Dommisch, Markus Reinartz, Michael Nothnagel, Barbara Noack, Marja L Laine, Mathias Folwaczny, Birte Groessner-Schreiber, Bruno G Loos, Søren Jepsen, Stefan Schreiber

Journal of Medical Genetics Jan 2011, 48 (1) 38-47; DOI: 10.1136/jmg.2010.078998
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy
A H Christensen, M Benn, H Bundgaard, A Tybjærg-Hansen, S Haunso, J H Svendsen

Journal of Medical Genetics Nov 2010, 47 (11) 736-744; DOI: 10.1136/jmg.2010.077891
Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4
John F Staropoli, Winnie Xin, Katherine B Sims

Journal of Medical Genetics Nov 2010, 47 (11) 786-790; DOI: 10.1136/jmg.2010.079301
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
Homa Tajsharghi, Trond P Leren, Saba Abdul-Hussein, Mar Tulinius, Leif Brunvand, Hilde M Dahl, Anders Oldfors

Journal of Medical Genetics Aug 2010, 47 (8) 575-577; DOI: 10.1136/jmg.2009.072710
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population
Gail Billingsley, Jenea Bin, Karen J Fieggen, Jacque L Duncan, Christina Gerth, Koji Ogata, Shoshana S Wodak, Elias I Traboulsi, Gerald A Fishman, Andrew Paterson, David Chitayat, Tanja Knueppel, José M Millán, Grant A Mitchell, Catherine Deveault, Elise Héon

Journal of Medical Genetics Jul 2010, 47 (7) 453-463; DOI: 10.1136/jmg.2009.073205

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