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1

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

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

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

4

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

5

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

6

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

7

Identification of a novel single base insertion in the adenomatous polyposis coli gene

Maritha J. Kotze, Johanna J. Grobbelaar, Micheal V. Madden

Journal:

Year:

1996

Language:

english

File:

PDF, 181 KB

english, 1996

8

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

9

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

10

The UMD-LDLR database: additions to the software and 490 new entries to the database

Ludovic Villéger, Marianne Abifadel, Delphine Allard, Jean-Pierre Rabès, Rochelle Thiart, Maritha J. Kotze, Christophe Béroud, Claudine Junien, Catherine Boileau, Mathilde Varret

Journal:

Year:

2002

Language:

english

File:

PDF, 168 KB

english, 2002

11

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

12

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

13

Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms

Armand V. Peeters, Luc F. Gaal, Leonora Theart, Elzet Langenhoven, Maritha J. Kotze

Journal:

Year:

1995

Language:

english

File:

PDF, 661 KB

english, 1995

14

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

15

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

16

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

17

Analysis of viral and genetic factors in South African patients with multiple sclerosis

J. Nico P. de Villiers, Florette K. Treurnicht, Louise Warnich, Jonathan Carr, Susan J. van Rensburg, Maritha J. Kotze

Journal:

Metabolic Brain Disease

Year:

2006

Language:

english

File:

PDF, 221 KB

english, 2006

18

Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis

Maritha J. Kotze, J Nico P de Villiers, Louise Warnich, Stephen Schmidt, Jonathan Carr, Erna Mansvelt, Elba Fourie, Susan J van Rensburg

Journal:

Metabolic Brain Disease

Year:

2006

Language:

english

File:

PDF, 253 KB

english, 2006

19

Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria

J. Nico P. De Villiers, Maritha J. Kotze, Carel J. Van Heerden, Annalene Sadie, Helena F. J. Gardner, Juanita Liebenberg, René Van Zyl, Lana Du Plessis, Matti Kimberg, Jorge Frank, Louise Warnich

Journal:

Experimental Dermatology

Year:

2005

Language:

english

File:

PDF, 749 KB

english, 2005

20

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, J. Nico P. de Villiers, Elzet Langenhoven, Leonora Theart, Krisela Steyn, A. David Marais, Frederick J. Raal

Journal:

Clinical Genetics

Year:

1997

Language:

english

File:

PDF, 465 KB

english, 1997

21

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

22

Concentrations of the atherogenic Lp(a) are elevated in familial hypercholesterolaemia: a sib pair and family analysis

Lingenhel, Arno, Kraft, Hans Georg, Kotze, Maritha, Peeters, Armand V, Kronenberg, Florian, Kruse, Rita, Utermann, Gerd

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 243 KB

english, 1998

23

Multiple APC mutations in sporadic flat colorectal adenomas

van Wyk, René, Slezak, Premysl, Kotze, Maritha J, Jaramillo, Edgar, Koizumi, Koichi, Grobbelaar, Johanna J

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 222 KB

english, 1999

24

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population

Julies, Monique G, Moore, Sam W, Kotze, Maritha J, du Plessis, Lana

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 128 KB

english, 2001

25

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

26

Association of functional polymorphisms of SLC11A1 with risk of esophageal cancer in the South African Colored population

Monique G. Zaahl, Louise Warnich, Tommy C. Victor, Maritha J. Kotze

Journal:

Cancer Genetics and Cytogenetics

Year:

2005

Language:

english

File:

PDF, 175 KB

english, 2005

27

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

28

Detection of the Pvull RFLP in intron 15 of the LDL receptor gene by long-distance PCR

Lana du Plessis, Maritha J. Kotze

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 227 KB

english, 1996

29

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

30

Analysis of the NRAMP1 Gene Implicated in Iron Transport: Association with Multiple Sclerosis and Age Effects

Maritha J. Kotze, J.Nico P. de Villiers, Roberta N. Rooney, Johanna J. Grobbelaar, Erna P.G. Mansvelt, Christianne S.H. Bouwens, Jonathan Carr, Ilse Stander, Lana du Plessis

Journal:

Blood Cells, Molecules, and Diseases

Year:

2001

Language:

english

File:

PDF, 64 KB

english, 2001

31

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

32

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

33

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

34

Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations

Magda Callis, Stander Jansen, Rochelle Thiart, J.Nico P. de Villiers, Frederick J. Raal, Maritha J. Kotze

Journal:

Molecular and Cellular Probes

Year:

1998

Language:

english

File:

PDF, 284 KB

english, 1998

35

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

36

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

37

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

38

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

39

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

40

CYP2D6 genotyping and use of antidepressants in breast cancer patients: test development for clinical application

van der Merwe, Nicole, Bouwens, Christianne S. H., Pienaar, Rika, van der Merwe, Lize, Yako, Yandiswa Y., Geiger, Dieter H., Kotze, Maritha J.

Journal:

Metabolic Brain Disease

Year:

2012

Language:

english

File:

PDF, 159 KB

english, 2012

41

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

42

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

43

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

44

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

45

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

46

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

47

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

48

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

49

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

50

Analysis of the SLC11A1 gene in South African patients with inflammatory bowel disease

Zaahl, Monique G., Winter, Trevor, Peeters, Armand, Marks, Tessa, Warnich, Louise, Robson, Kathryn, Kotze, Maritha

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 175 KB

english, 2003