genetic basis of long QT and short QT syndromes: A mutation update
Hedley, Paula L, Jørgensen, Poul, Schlamowitz, Sarah, Wangari, Romilda, Moolman-Smook, Johanna, Brink, Paul A, Kanters, Jørgen K, Corfield, Valerie A, Christiansen, Michael
Published in Human mutation (01.11.2009)
Published in Human mutation (01.11.2009)
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genetic basis of Brugada syndrome: A mutation update
Hedley, Paula L, Jørgensen, Poul, Schlamowitz, Sarah, Moolman-Smook, Johanna, Kanters, Jørgen K, Corfield, Valerie A, Christiansen, Michael
Published in Human mutation (01.09.2009)
Published in Human mutation (01.09.2009)
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Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population
Hagen, Christian M, Aidt, Frederik H, Hedley, Paula L, Jensen, Morten K, Havndrup, Ole, Kanters, Jørgen K, Moolman-Smook, Johanna C, Larsen, Severin O, Bundgaard, Henning, Christiansen, Michael
Published in PloS one (05.08.2013)
Published in PloS one (05.08.2013)
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The role of the brain-derived neurotrophic factor (BDNF) val66met variant in the phenotypic expression of obsessive-compulsive disorder (OCD)
Katerberg, Hilga, Lochner, Christine, Cath, Danielle C., de Jonge, Peter, Bochdanovits, Zoltán, Moolman-Smook, Johanna C., Hemmings, Sîan M.J., Carey, Paul D., Stein, Dan J., Sondervan, David, Boer, Johan A. den, van Balkom, Anton J.L.M., Polman, Annemiek, Heutink, Peter
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.12.2009)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.12.2009)
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Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa
Watkins, David A, Hendricks, Neil, Shaboodien, Gasnat, Mbele, Mzwandile, Parker, Michelle, Vezi, Brian Z, Latib, Azeem, Chin, Ashley, Little, Francesca, Badri, Motasim, Moolman-Smook, Johanna C, Okreglicki, Andrzej, Mayosi, Bongani M
Published in Heart rhythm (01.11.2009)
Published in Heart rhythm (01.11.2009)
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Investigating the role of the brain-derived neurotrophic factor (BDNF) val66met variant in obsessive-compulsive disorder (OCD)
Hemmings, Sîan M.J., Kinnear, Craig J., Van Der Merwe, Lize, Lochner, Christine, Corfield, Valerie A., Moolman-Smook, Johanna C., Stein, Dan J.
Published in The world journal of biological psychiatry (2008)
Published in The world journal of biological psychiatry (2008)
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MT‐CYB mutations in hypertrophic cardiomyopathy
Hagen, Christian M., Aidt, Frederik H., Havndrup, Ole, Hedley, Paula L., Jespersgaard, Cathrine, Jensen, Morten, Kanters, Jørgen K., Moolman‐Smook, Johanna C., Møller, Daniel V., Bundgaard, Henning, Christiansen, Michael
Published in Molecular genetics & genomic medicine (01.05.2013)
Published in Molecular genetics & genomic medicine (01.05.2013)
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Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations
Heradien, Marshall, Revera, Miriam, van der Merwe, Lize, Goosen, Althea, Corfield, Valerie A, Brink, Paul A, Mayosi, Bongani M, Moolman-Smook, Johanna C
Published in Heart rhythm (01.11.2009)
Published in Heart rhythm (01.11.2009)
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MT‐CYB mutations in hypertrophic cardiomyopathy
Hagen, Christian M., Aidt, Frederik H., Havndrup, Ole, Hedley, Paula L., Jespersgaard, Cathrine, Jensen, Morten, Kanters, Jørgen K., Moolman‐Smook, Johanna C., Møller, Daniel V., Bundgaard, Henning, Christiansen, Michael
Published in Molecular genetics & genomic medicine (01.09.2013)
Published in Molecular genetics & genomic medicine (01.09.2013)
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Journal Article
The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study
Hedley, Paula L, Haundrup, Ole, Andersen, Paal S, Aidt, Frederik H, Jensen, Morten, Moolman-Smook, Johanna C, Bundgaard, Henning, Christiansen, Michael
Published in Journal of negative results in biomedicine (03.10.2011)
Published in Journal of negative results in biomedicine (03.10.2011)
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AKAP9 Is a Genetic Modifier of Congenital Long-QT Syndrome Type 1
de Villiers, Carin P, van der Merwe, Lize, Crotti, Lia, Goosen, Althea, George, Alfred L, Schwartz, Peter J, Brink, Paul A, Moolman-Smook, Johanna C, Corfield, Valerie A
Published in Circulation. Cardiovascular genetics (01.10.2014)
Published in Circulation. Cardiovascular genetics (01.10.2014)
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Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
Andersen, Paal Skytt, Havndrup, Ole, Hougs, Lotte, Sørensen, Karina M, Jensen, Morten, Larsen, Lars Allan, Hedley, Paula, Bie Thomsen, Alex Rojas, Moolman-Smook, Johanna, Christiansen, Michael, Bundgaard, Henning
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Investigating SAPAP3 variants in the etiology of obsessive-compulsive disorder and trichotillomania in the South African white population
Boardman, Leigh, van der Merwe, Lize, Lochner, Christine, Kinnear, Craig J, Seedat, Soraya, Stein, Dan J, Moolman-Smook, Johanna C, Hemmings, Sian M.J
Published in Comprehensive psychiatry (01.03.2011)
Published in Comprehensive psychiatry (01.03.2011)
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Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C
Uys, Gerrida M, Ramburan, Amsha, Loos, Benjamin, Kinnear, Craig J, Korkie, Lundi J, Mouton, Jomien, Riedemann, Johann, Moolman-Smook, Johanna C
Published in BMC cell biology (10.05.2011)
Published in BMC cell biology (10.05.2011)
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RBBP6 Interacts with Multifunctional Protein YB-1 through Its RING Finger Domain, Leading to Ubiquitination and Proteosomal Degradation of YB-1
Chibi, Moredreck, Meyer, Mervin, Skepu, Amanda, G. Rees, D. Jasper, Moolman-Smook, Johanna C., Pugh, David J.R.
Published in Journal of molecular biology (26.12.2008)
Published in Journal of molecular biology (26.12.2008)
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Hoarding in obsessive-compulsive disorder: clinical and genetic correlates
Lochner, Christine, Kinnear, Craig J, Hemmings, Sian M J, Seller, Cathlene, Niehaus, Dana J H, Knowles, James A, Daniels, Willie, Moolman-Smook, Johanna C, Seedat, Soraya, Stein, Dan J
Published in The journal of clinical psychiatry (01.09.2005)
Published in The journal of clinical psychiatry (01.09.2005)
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Genetic variation in angiotensin II type 2 receptor gene influences extent of left ventricular hypertrophy in hypertrophic cardiomyopathy independent of blood pressure
Carstens, Nadia, van der Merwe, Lize, Revera, Miriam, Heradien, Marshall, Goosen, Althea, Brink, Paul A, Moolman-Smook, Johanna C
Published in Journal of the renin-angiotensin-aldosterone system (01.09.2011)
Published in Journal of the renin-angiotensin-aldosterone system (01.09.2011)
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Cluster analysis of obsessive-compulsive spectrum disorders in patients with obsessive-compulsive disorder: clinical and genetic correlates
Lochner, Christine, Hemmings, Sian M.J., Kinnear, Craig J., Niehaus, Dana J.H., Nel, Daniel G., Corfield, Valerie A., Moolman-Smook, Johanna C., Seedat, Soraya, Stein, Dan J.
Published in Comprehensive psychiatry (2005)
Published in Comprehensive psychiatry (2005)
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Gender in obsessive–compulsive disorder: clinical and genetic findings
Lochner, Christine, Hemmings, Sian M.J., Kinnear, Craig J., Moolman-Smook, Johanna C., Corfield, Valerie A., Knowles, James A., Niehaus, Dana J.H., Stein, Dan J.
Published in European neuropsychopharmacology (01.03.2004)
Published in European neuropsychopharmacology (01.03.2004)
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