Kotze, Maritha J: search on Z-Library

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1

Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia

Frederick J. Raal, Anuradha S. Pappu, D.Roger Illingworth, Gillian J. Pilcher, A.David Marais, Jean C. Firth, Maritha J. Kotze, Therese M. Heinonen, Donald M. Black

Journal:

Atherosclerosis

Year:

2000

Language:

english

File:

PDF, 121 KB

english, 2000

2

Recent Origin and Spread of a Common Lithuanian Mutation, G197del LDLR, Causing Familial Hypercholesterolemia: Positive Selection Is Not Always Necessary to Account for Disease Incidence among Ashkenazi Jews

Ronen Durst, Roberto Colombo, Shoshi Shpitzen, Liat Ben Avi, Yechiel Friedlander, Roni Wexler, Frederick J. Raal, David A. Marais, Joep C. Defesche, Michail Y. Mandelshtam, Maritha J. Kotze, Eran Leit

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 168 KB

english, 2001

3

A framework for tiered informed consent for health genomic research in Africa

Nembaware, Victoria, Johnston, Katherine, Diallo, Alpha A., Kotze, Maritha J., Matimba, Alice, Moodley, Keymanthri, Tangwa, Godfrey B., Torrorey-Sawe, Rispah, Tiffin, Nicki

Journal:

Nature Genetics

Year:

2019

File:

PDF, 867 KB

2019

4

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

A. V. Peeters, Luc F. Van Gaal, L. du Plessis, M. Paola R. Lombardi, Louis M. Havekes, Maritha J. Kotze

Journal:

Year:

1997

Language:

english

File:

PDF, 62 KB

english, 1997

5

Application of Molecular Genetics in Clinical Practice

Kotze, Maritha J

Journal:

South African Family Practice

Year:

2005

Language:

english

File:

PDF, 318 KB

english, 2005

6

Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample

Estrelita J. van Rensburg, Susan Engelbrecht, Willem F. P. van Heerden, Maritha J. Kotze, Erich J. Raubenheimer

Journal:

Year:

1998

Language:

english

File:

PDF, 182 KB

english, 1998

7

Efficacy of vitamin E compared with either simvastatin or atorvastatin in preventing the progression of atherosclerosis in homozygous familial hypercholesterolemia

Frederick J. Raal, Gillian J. Pilcher, Martin G. Veller, Maritha J. Kotze, Barry I. Joffe

Journal:

The American Journal of Cardiology

Year:

1999

Language:

english

File:

PDF, 87 KB

english, 1999

8

Significance of Linkage Disequilibrium between Mutation C282Y and a MseI Polymorphism in Population Screening and DNA Diagnosis of Hemochromatosis

J.Nico P de Villiers, Maritha J Kotze

Journal:

Blood Cells, Molecules, and Diseases

Year:

1999

Language:

english

File:

PDF, 39 KB

english, 1999

9

Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis

Mahjoubeh Jalali Sefid Dashti, Maritha Kotze, Susan Janse van Rensburg…

Journal:

BMC Proceedings

Year:

2012

Language:

english

File:

PDF, 81 KB

english, 2012

10

A Reverse-Hybridization Assay for the Rapid and Simultaneous Detection of Nine HFE Gene Mutations

Oberkanins, Christian, Moritz, Anne, de Villiers, J. Nico P., Kotze, Maritha J., Kury, Fritz

Journal:

Genetic Testing

Year:

2000

Language:

english

File:

PDF, 202 KB

english, 2000

11

Multiple mutations underlying familial hypercholesterolemia in the South African population

Howard E. Henderson, Maritha J. Kotze, G. Michael B. Berger

Journal:

Year:

1989

Language:

english

File:

PDF, 499 KB

english, 1989

12

Expression of the SLC11A1 (NRAMP1) 5′-(GT)n repeat: Opposite effect in the presence of −237C→T

Monique G Zaahl, Kathryn J.H Robson, Louise Warnich, Maritha J Kotze

Journal:

Blood Cells, Molecules, and Diseases

Year:

2004

Language:

english

File:

PDF, 386 KB

english, 2004

13

Multiple sclerosis-like diagnosis as a complication of previously treated malaria in an iron and vitamin D deficient Nigerian patient

van Rensburg, Susan J., van Toorn, Ronald, Moremi, Kelebogile E., Peeters, Armand V., Oguniyi, Adesola, Kotze, Maritha J.

Journal:

Metabolic Brain Disease

Year:

2016

Language:

english

File:

PDF, 331 KB

english, 2016

14

MedPed FH: a paradigm for other common monogenic diseases in South Africa

Maritha J. Kotze, Magda Callis

Journal:

Atherosclerosis

Year:

1999

Language:

english

File:

PDF, 48 KB

english, 1999

15

Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway

van der Merwe, Nicole, Peeters, Armand, Pienaar, Fredrieka, Bezuidenhout, Juanita, van Rensburg, Susan, Kotze, Maritha

Journal:

International Journal of Molecular Sciences

Year:

2017

Language:

english

File:

PDF, 2.60 MB

english, 2017

16

Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote

Elzet Langenhoven, Louise Warnich, Rochelle Thiart, David C. Rubinsztein, Deneys R. van der Westhuyzen, A.David Marais, Maritha J. Kotze

Journal:

Atherosclerosis

Year:

1996

Language:

english

File:

PDF, 785 KB

english, 1996

17

The conundrum of iron in multiple sclerosis – time for an individualised approach

Rensburg, Susan J., Kotze, Maritha J., Toorn, Ronald

Journal:

Metabolic Brain Disease

Year:

2012

Language:

english

File:

PDF, 312 KB

english, 2012

18

The fat mass and obesity-associated FTO rs9939609 polymorphism is associated with elevated homocysteine levels in patients with multiple sclerosis screened for vascular risk factors

Davis, Wiliam, van Rensburg, Susan J., Cronje, Frans J., Whati, Lindiwe, Fisher, Leslie R., van der Merwe, Lize, Geiger, Dieter, Hassan, M. Shafick, Matsha, Tandi, Erasmus, Rajiv T., Kotze, Maritha J.

Journal:

Metabolic Brain Disease

Year:

2014

Language:

english

File:

PDF, 523 KB

english, 2014

19

Tu1811 Correlation Between Mutations in the HFE Gene and Alanine Transaminase Levels May Increase the Risk of Cardiovascular Disease Events in Patients With NASH

Kruger, Frederik C., Fisher, Leslie R., Kidd, Martin, Daniels, Caroline, Kotze, Maritha J.

Journal:

Gastroenterology

Year:

2012

Language:

english

File:

PDF, 193 KB

english, 2012

20

Novel mutations identified using a comprehensive CCR5-denaturing gradient gel electrophoresis assay

Petersen, Desiree C., Kotze, Maritha J., Zeier, Michele D., Grimwood, Ashraf, Pretorius, Deon, Vardas, Eftyhia, Janse van Rensburg, Estrelita, Hayes, Vanessa M.

Journal:

Year:

2001

Language:

english

File:

PDF, 270 KB

english, 2001

21

Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer’s disease

Kotze, Maritha J., Rensburg, Susan J.

Journal:

Metabolic Brain Disease

Year:

2012

Language:

english

File:

PDF, 276 KB

english, 2012

22

Significance of dietary folate intake, homocysteine levels and MTHFR 677 C>T genotyping in South African patients diagnosed with depression: test development for clinical application

Delport, Darnielle, Schoeman, Renata, van der Merwe, Nicole, van der Merwe, Lize, Fisher, Leslie R., Geiger, Dieter, Kotze, Maritha J.

Journal:

Metabolic Brain Disease

Year:

2014

Language:

english

File:

PDF, 227 KB

english, 2014

23

Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload

Monique G. Zaahl, Alison T. Merryweather-Clarke, Maritha J. Kotze, Schalk van der Merwe, Louise Warnich, Kathryn J. H. Robson

Journal:

Year:

2004

Language:

english

File:

PDF, 316 KB

english, 2004

24

Genomic medicine and risk prediction across the disease spectrum

Kotze, Maritha J., Lückhoff, Hilmar K., Peeters, Armand V., Baatjes, Karin, Schoeman, Mardelle, van der Merwe, Lize, Grant, Kathleen A., Fisher, Leslie R., van der Merwe, Nicole, Pretorius, Jacobus, v

Journal:

Critical Reviews in Clinical Laboratory Sciences

Year:

2015

Language:

english

File:

PDF, 435 KB

english, 2015

25

Apolipoprotein E ε-4 as a genetic determinant of Alzheimer’s disease heterogeneity

Kotze, Maritha, Brand, Theresa, Pretorius, Jakobus, J van Rensburg, Susan, Luckhoff, Hilmar Klaus

Journal:

Degenerative Neurological and Neuromuscular Disease

Year:

2015

Language:

english

File:

PDF, 314 KB

english, 2015

26

Mo1541 A Non-Invasive Pre-Screen Diagnostic Algorithm to Differentiate Between Genetic Hereditary Hemochromatosis and the Dysmetabolic Iron Overload Syndrome

Kruger, Frederik C., Lückhoff, Hilmar K., Kotze, Maritha, van Rensburg, Susan J.

Journal:

Gastroenterology

Year:

2016

Language:

english

File:

PDF, 455 KB

english, 2016

27

Fractional anisotropy of white matter, disability and blood iron parameters in multiple sclerosis

Herbert, Estelle, Engel-Hills, Penelope, Hattingh, Coenraad, Fouche, Jean-Paul, Kidd, Martin, Lochner, Christine, Kotze, Maritha J., van Rensburg, Susan J.

Journal:

Metabolic Brain Disease

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

28

A framework for tiered informed consent for health genomic research in Africa

Nembaware, Victoria, Johnston, Katherine, Diallo, Alpha A., Kotze, Maritha J., Matimba, Alice, Moodley, Keymanthri, Tangwa, Godfrey B., Torrorey-Sawe, Rispah, Tiffin, Nicki

Journal:

Nature Genetics

Year:

2019

Language:

english

File:

PDF, 867 KB

english, 2019

29

Reclassification of early stage breast cancer into treatment groups by combining the use of immunohistochemistry and microarray analysis

Grant, Kathleen A., Myburgh, Ettienne J., Murray, Elizabeth, Pienaar, Fredrieka M., Kidd, Martin, Wright, Colleen A., Kotze, Maritha J.

Journal:

South African Journal of Science

Year:

2019

File:

PDF, 301 KB

2019

30

Simultaneous Detection of Multiple Familial Hypercholesterolemia Mutations Facilitates an Improved Diagnostic Service in South African Patients at High Risk of Cardiovascular Disease

Dr Maritha J. Kotze,Gernot Kriegshäuser,Rochelle Thiart…

Journal:

Molecular Diagnosis & Therapy

Year:

2003

Language:

english

File:

PDF, 233 KB

english, 2003

31

Somatic mutations of the APC, KRAS, and TP53 genes in nonpolypoid colorectal adenomas

René van Wyk, Premysl Slezak, Vanessa M. Hayes, Charles H.C.M. Buys, Maritha J. Kotze, Greetje de Jong, Carlos Rubio, Anders Dolk, Edgar Jaramillo, Koichi Koizumi, Johanna J. Grobbelaar

Journal:

Genes, Chromosomes and Cancer

Year:

2000

Language:

english

File:

PDF, 113 KB

english, 2000

32

Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing

Torrorey-Sawe, Rispah, van der Merwe, Nicole, Mining, Simeon Kipkoech, Kotze, Maritha J.

Journal:

Frontiers in Genetics

Year:

2020

File:

PDF, 1.53 MB

2020

33

A de novo duplication in the low density lipoprotein receptor gene

Maritha J. Kotze, Leonora Theart, Armand Peeters, Elzet Langenhoven

Journal:

Year:

1995

Language:

english

File:

PDF, 202 KB

english, 1995

34

Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis

Maritha J. Kotze, Elzet Langenhoven, Armand V. Peeters, Leonora Theart, C.J.Joubert Oosthuizen

Journal:

Molecular and Cellular Probes

Year:

1994

File:

PDF, 329 KB

1994

35

A nonsense mutation (Arg-196-Term) in exon 6 of the human TP53 gene identified in small cell lung carcinoma

Vanessa M. Hayes, C.J.Joubert Oosthuizen, Maritha J. Kotze, Munro P. Marx, Charles H.C.M. Buys

Journal:

Molecular and Cellular Probes

Year:

1996

Language:

english

File:

PDF, 91 KB

english, 1996

36

Mo1051 TNF-α Rs1800629 (−308 G>a) Genotyping May Identify Obese Individuals At High Risk for Development of Non-Alcoholic Fatty Liver Disease (NAFLD)

Kruger, Frederik C., Pretorius, Jakobus, Daniels, Caroline, Van Der Merwe, Lize, Kotze, Maritha J.

Journal:

Gastroenterology

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

37

Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent

Rooney, Roberta N., Kotze, Maritha J., de Villiers, J. Nico P., Hillermann, Renate, Cohen, Jeffrey A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 37 KB

english, 1999

38

Screening South African familial adenomatous polyposis families for the five-nucleotide deletion at codon 1309 of the APC gene

Johanna J. Grobbelaar, C.J. Joubert Oosthuizen, Maritha J. Kotze

Journal:

Molecular and Cellular Probes

Year:

1995

Language:

english

File:

PDF, 658 KB

english, 1995

39

The −237C→T promoter polymorphism of theSLC11A1gene is associated with a protective effect in relation to inflammatory bowel disease in the South African population

Monique G. Zaahl, Trevor A. Winter, Louise Warnich, Maritha J. Kotze

Journal:

International Journal of Colorectal Disease

Year:

2006

Language:

english

File:

PDF, 115 KB

english, 2006

40

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

Mathilde Varret, Jean-Pierre Rabès, Bruno Saint-Jore, Ana Cenarro, Jean-Christophe Marinoni, Fernando Civeira, Martine Devillers, Michel Krempf, Monique Coulon, Rochelle Thiart, Maritha J. Kotze, Hele

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 113 KB

english, 1999

41

Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Physical Activity, Food Intake, Eating Behaviors, Psychological Health, and Modeled Change in Body Mass Index in Overweight/Obese Caucasian Adults

Harbron, Janetta, van der Merwe, Lize, Zaahl, Monique, Kotze, Maritha, Senekal, Marjanne

Journal:

Year:

2014

Language:

english

File:

PDF, 255 KB

english, 2014

42

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia

Rochelle Thiart, Odell Loubser, J. Nico P. de Villiers, Munro P. Marx, Reinhardt Zaire, Frederick J. Raal, Dr. Maritha J. Kotze

Journal:

Year:

1998

Language:

english

File:

PDF, 173 KB

english, 1998

43

Pathology-supported genetic testing directed at shared disease pathways for optimized health in later life

Kotze, Maritha J, van Velden, David P, Botha, Karien, Badenhorst, Casper H, Avenant, Heloise, van Rensburg, Susan J, Cronjé, Frans J

Journal:

Personalized Medicine

Year:

2013

Language:

english

File:

PDF, 640 KB

english, 2013

44

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

Rochelle Thiart, Odell Loubser, J.Nico P de Villiers, Maria Santos, Maritha J Kotze

Journal:

Molecular and Cellular Probes

Year:

1997

Language:

english

File:

PDF, 91 KB

english, 1997

45

Genetic Origins of Lactase Persistence and the Spread of Pastoralism in Africa

Ranciaro, Alessia, Campbell, Michael C., Hirbo, Jibril B., Ko, Wen-Ya, Froment, Alain, Anagnostou, Paolo, Kotze, Maritha J., Ibrahim, Muntaser, Nyambo, Thomas, Omar, Sabah A., Tishkoff, Sarah A.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.11 MB

english, 2014

46

Incorporating microarray assessment of HER2 status in clinical practice supports individualised therapy in early-stage breast cancer

Grant, Kathleen A., Pienaar, Fredrieka M., Brundyn, Karen, Swart, Gillaume, Gericke, George S., Myburgh, Ettienne J., Wright, Colleen A., Apffelstaedt, Justus P., Kotze, Maritha J.

Journal:

Year:

2015

Language:

english

File:

PDF, 611 KB

english, 2015

47

MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer

Grant, Kathleen A, Apffelstaedt, Justus P, Wright, Colleen A, Myburgh, Ettienne, Pienaar, Rika, De Klerk, Manie, Kotze, Maritha J

Journal:

South African Medical Journal

Year:

2013

Language:

english

File:

PDF, 164 KB

english, 2013

48

The relationship between a measure of in vivo brain glutamate and markers of iron metabolism: A proton magnetic resonance spectroscopy study in healthy adults

Burger, Antoinette, Kotze, Maritha J, Stein, Dan J, van Rensburg, Susan J, Howells, Fleur M

Journal:

European Journal of Neuroscience

Year:

2019

Language:

english

File:

PDF, 7.68 MB

english, 2019

49

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa

Maritha J. Kotze, Armand V. Peeters, Odell Loubser, Leonora Theart, Lana du Plessis, Vanessa M. Hayes, Greetje de Jong, J. Nico P. de Villiers, Carl J. Lombard, Peter S. Hansen, Frederick J. Raal

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 409 KB

english, 1998

50

Rooibos: Effect on Iron Status of South African Adults at Risk for Coronary Heart Disease

Marnewick, Jeanine L., Venter, Irma, Rautenbach, Fanie, Neethling, Henry, Kotze, Maritha

Journal:

Free Radical Biology and Medicine

Year:

2012

Language:

english

File:

PDF, 184 KB

english, 2012

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