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Danielle Majoor-Krakauer MD, MsC, PhD
Danielle Majoor-Krakauer MD, MsC, PhD
Dept. Clincal Genetics, Erasmus MC, Rotterdam, the Netherlands
Geverifieerd e-mailadres voor erasmusmc.nl
Titel
Geciteerd door
Geciteerd door
Jaar
Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma
BR Seizinger, GA Rouleau, LJ Ozelius, AH Lane, GE Farmer, JM Lamiell, ...
Nature 332 (6161), 268-269, 1988
7911988
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
IMBH van de Laar, RA Oldenburg, G Pals, JW Roos-Hesselink, ...
Nature genetics 43 (2), 121-126, 2011
7172011
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
RMW Hofstra, J Osinga, G Tan-Sindhunata, Y Wu, EJ Kamsteeg, RP Stulp, ...
Nature genetics 12 (4), 445-447, 1996
4231996
Genetic analysis of von Hippel‐Lindau disease
M Nordstrom‐O'Brien, RB van der Luijt, E van Rooijen, ...
Human mutation 31 (5), 521-537, 2010
3472010
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
J Simón-Sánchez, EGP Dopper, PE Cohn-Hokke, RK Hukema, ...
Brain 135 (3), 723-735, 2012
3312012
Genetics, clinical features, and long-term outcome of noncompaction cardiomyopathy
JI van Waning, K Caliskan, YM Hoedemaekers, ...
Journal of the American College of Cardiology 71 (7), 711-722, 2018
2882018
The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy
YM Hoedemaekers, K Caliskan, M Michels, I Frohn-Mulder, ...
Circulation: Cardiovascular Genetics 3 (3), 232-239, 2010
2842010
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study
EM Hoogerwaard, E Bakker, PF Ippel, JC Oosterwijk, DF Majoor-Krakauer, ...
The Lancet 353 (9170), 2116-2119, 1999
2771999
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs
E Bakker, N Goor, K Wrogemann, LM Kunkel, WA Fenton, ...
The Lancet 325 (8430), 655-658, 1985
2591985
Genetic epidemiology of amyotrophic lateral sclerosis
D Majoor‐Krakauer, PJ Willems, A Hofman
Clinical genetics 63 (2), 83-101, 2003
2292003
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy
EM Hoogerwaard, PA Van der Wouw, AAM Wilde, E Bakker, PF Ippel, ...
Neuromuscular Disorders 9 (5), 347-351, 1999
2171999
Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies
YM Hoedemaekers, K Caliskan, D Majoor-Krakauer, I van de Laar, ...
European heart journal 28 (22), 2732-2737, 2007
1802007
Clinical spectrum of ataxia-telangiectasia in adulthood
MMM Verhagen, WF Abdo, M Willemsen, FBL Hogervorst, D Smeets, ...
Neurology 73 (6), 430-437, 2009
1782009
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: A genotype–phenotype study
MMM Verhagen, JI Last, FBL Hogervorst, DFCM Smeets, N Roeleveld, ...
Human mutation 33 (3), 561-571, 2012
1672012
Familial aggregation of amyotrophic lateral sclerosis, dementia, and Parkinson's disease: evidence of shared genetic susceptibility
D Majoor-Krakauer, R Ottman, WG Johnson, LP Rowland
Neurology 44 (10), 1872-1872, 1994
1361994
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
M Quadri, W Mandemakers, MM Grochowska, R Masius, H Geut, ...
The Lancet Neurology 17 (7), 597-608, 2018
1222018
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations
H Seelaar, H Jurgen Schelhaas, A Azmani, B Küsters, S Rosso, ...
Brain 130 (5), 1375-1385, 2007
1192007
Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers
M Michels, OII Soliman, J Phefferkorn, YM Hoedemaekers, MJ Kofflard, ...
European heart journal 30 (21), 2593-2598, 2009
1122009
Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations
M Michels, OII Soliman, MJ Kofflard, YM Hoedemaekers, D Dooijes, ...
JACC: Cardiovascular Imaging 2 (1), 58-64, 2009
1062009
Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R
E Van Herpen, SM Rosso, LA Serverijnen, H Yoshida, G Breedveld, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
1042003
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Artikelen 1–20