Pathologic grooming (acne excoriee, trichotillomania, and nail biting) in 4 generations of a single family

por Khumalo, Nonhlanhla P., Shaboodien, Gasnat, Hemmings, Sian M.J., Moolman-Smook, Johanna C., Stein, Dan J.
Publicado 2016

The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

por Hedley, Paula L, Haundrup, Ole, Andersen, Paal S, Aidt, Frederik H, Jensen, Morten, Moolman-Smook, Johanna C, Bundgaard, Henning, Christiansen, Michael
Publicado 2011

Long-term follow-up of R403W(MYH7) and R92W(TNNT2) HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression

por Revera, Miriam, Van Der Merwe, Lize, Heradien, Marshall, Goosen, Althea, Brink, Paul A, Corfield, Valerie A, Moolman-Smook, Johanna C
Publicado 2007

Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricu...

por Mouton, Jomien M, Kinnear, Craig J, Moolman-Smook, Johanna C, Herbst, Philip G, Pellizzon, Adriano S, Goosen, Althea, Brink, Paul A
Publicado 2015

Myomegalin is a novel A-kinase anchoring protein involved in the phosphorylation of cardiac myosin binding protein C

por Uys, Gerrida M, Ramburan, Amsha, Loos, Benjamin, Kinnear, Craig J, Korkie, Lundi J, Mouton, Jomien, Riedemann, Johann, Moolman-Smook, Johanna C
Publicado 2011

Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy

por van der Merwe, Lize, Cloete, Ruben, Revera, Miriam, Heradien, Marshall, Goosen, Althea, Corfield, Valerie A., Brink, Paul A., Moolman-Smook, Johanna C.
Publicado 2008

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

por Heradien, Marshall, Revera, Miriam, van der Merwe, Lize, Goosen, Althea, Corfield, Valerie A., Brink, Paul A., Mayosi, Bongani M., Moolman-Smook, Johanna C.
Publicado 2009

Mitochondrial Haplogroups Modify the Risk of Developing Hypertrophic Cardiomyopathy in a Danish Population

por 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
Publicado 2013

MT-CYB mutations in hypertrophic cardiomyopathy

por 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
Publicado 2013

MT-CYB mutations in hypertrophic cardiomyopathy

por 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
Publicado 2013