Követés
Amanda Krause
Amanda Krause
Head of Division, Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand
E-mail megerősítve itt: wits.ac.za
Cím
Hivatkozott rá
Hivatkozott rá
Év
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
DR Langbehn, RR Brinkman, D Falush, JS Paulsen, MR Hayden, ...
Clinical genetics 65 (4), 267-277, 2004
9282004
A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease
EW Almqvist, M Bloch, R Brinkman, D Craufurd, MR Hayden
The American Journal of Human Genetics 64 (5), 1293-1304, 1999
4161999
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ...
Nature genetics 42 (7), 619-625, 2010
3452010
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
E De Baere, D Beysen, C Oley, B Lorenz, J Cocquet, P De Sutter, ...
The American Journal of Human Genetics 72 (2), 478-487, 2003
2942003
Lactase haplotype diversity in the Old World
EJ Hollox, M Poulter, M Zvarik, V Ferak, A Krause, T Jenkins, N Saha, ...
The American Journal of Human Genetics 68 (1), 160-172, 2001
2332001
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan
E Stevens, KJ Carss, S Cirak, AR Foley, S Torelli, T Willer, DE Tambunan, ...
The American Journal of Human Genetics 92 (3), 354-365, 2013
2022013
Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
J Böhm, V Biancalana, ET DeChene, M Bitoun, CR Pierson, E Schaefer, ...
Human mutation 33 (6), 949-959, 2012
1412012
Huntington's disease–like 2 (HDL2) in North America and Japan
RL Margolis, SE Holmes, A Rosenblatt, L Gourley, E O'Hearn, CA Ross, ...
Annals of Neurology: Official Journal of the American Neurological …, 2004
1372004
Interpretation of rubella serology in pregnancy—pitfalls and problems
JM Best, S O'Shea, G Tipples, N Davies, SM Al-Khusaiby, A Krause, ...
Bmj 325 (7356), 147-148, 2002
1372002
New insights into genotype–phenotype correlation for GLI3 mutations
F Démurger, A Ichkou, S Mougou-Zerelli, M Le Merrer, G Goudefroye, ...
European Journal of Human Genetics 23 (1), 92-102, 2015
1252015
The hereditary adult-onset ataxias in South Africa
A Bryer, A Krause, P Bill, V Davids, D Bryant, J Butler, J Heckmann, ...
Journal of the neurological sciences 216 (1), 47-54, 2003
1082003
The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population
C Kay, JA Collins, GEB Wright, F Baine, Z Miedzybrodzka, F Aminkeng, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018
782018
Music selection behaviors in everyday listening
A Krause, A North, L Hewitt
Journal of Broadcasting & Electronic Media 58 (2), 306-323, 2014
772014
Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes
FK Baine, C Kay, ME Ketelaar, JA Collins, A Semaka, CN Doty, A Krause, ...
European Journal of Human Genetics 21 (10), 1120-1127, 2013
772013
A common Fanconi anemia mutation in black populations of sub-Saharan Africa
NV Morgan, F Essop, I Demuth, T de Ravel, S Jansen, M Tischkowitz, ...
Blood 105 (9), 3542-3544, 2005
742005
Novel CYP2C9 and VKORC1 Gene Variants Associated with Warfarin Dosage Variability in the South African Black Population
C Mitchell, N Gregersen, A Krause
Pharmacogenomics 12 (7), 953-963, 2011
732011
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington …
A Krause, C Mitchell, F Essop, S Tager, J Temlett, G Stevanin, C Ross, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015
662015
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative …
FZ Francies, T Wainstein, K De Leeneer, A Cairns, M Murdoch, S Nietz, ...
BMC cancer 15, 1-10, 2015
652015
Genetic factors influencing warfarin dose in Black‐African patients: a systematic review and meta‐analysis
IG Asiimwe, EJ Zhang, R Osanlou, A Krause, C Dillon, G Suarez‐Kurtz, ...
Clinical Pharmacology & Therapeutics 107 (6), 1420-1433, 2020
632020
Beta-globin haplotype analysis suggests that a major source of Malagasy ancestry is derived from Bantu-speaking Negroids
R Hewitt, A Krause, A Goldman, G Campbell, T Jenkins
American journal of human genetics 58 (6), 1303, 1996
571996
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