Rochelle Thiart

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

Mathilde Varret, Jean‐Pierre Rabès, Bruno Saint-Jore et al. · The American Journal of Human Genetics · 1999 · 170 citations · Full text

Metabolic Syndrome, Lipid Disorder, Genetics +9

Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations.

Maritha J. Kotze, Leonora Theart, M Callís et al. · Genome Research · 1995 · 53 citations · Full text

Simultaneous Detection, Genetics, Genetic Epidemiology +16

First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

Soukeyna Carles, Marie Desgeorges, A Goldman et al. · Journal of Medical Genetics · 1996 · 52 citations · Full text

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry

Odell Loubser, A. David Marais, Maritha J. Kotze et al. · Clinical Genetics · 1999 · 33 citations

CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians

Maritha J. Kotze, Odell Loubser, Rochelle Thiart et al. · Clinical Genetics · 1997 · 28 citations

South African Indians, Genetics, Genetic Epidemiology +19