Majoor-Krakauer D - Search Results

1

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF. Monroe GR, et al. Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25845371

2

Intragenic probe used for diagnostics in fragile X families.

Verkerk AJ, deVries BB, Niermeijer MF, Fu YH, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ, Oostra BA. Verkerk AJ, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):192-6. doi: 10.1002/ajmg.1320430132. Am J Med Genet. 1992. PMID: 1605192

3

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH. Hofstra RM, et al. Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445. Nat Genet. 1996. PMID: 8630503 Free article.

4

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

van Herpen E, Rosso SM, Serverijnen LA, Yoshida H, Breedveld G, van de Graaf R, Kamphorst W, Ravid R, Willemsen R, Dooijes D, Majoor-Krakauer D, Kros JM, Crowther RA, Goedert M, Heutink P, van Swieten JC. van Herpen E, et al. Ann Neurol. 2003 Nov;54(5):573-81. doi: 10.1002/ana.10721. Ann Neurol. 2003. PMID: 14595646

5

Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience.

Michels M, Hoedemaekers YM, Kofflard MJ, Frohn-Mulder I, Dooijes D, Majoor-Krakauer D, Ten Cate FJ. Michels M, et al. Neth Heart J. 2007 May;15(5):184-90. doi: 10.1007/BF03085978. Neth Heart J. 2007. PMID: 17612681 Free PMC article.

6

Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies.

Hoedemaekers YM, Caliskan K, Majoor-Krakauer D, van de Laar I, Michels M, Witsenburg M, ten Cate FJ, Simoons ML, Dooijes D. Hoedemaekers YM, et al. Eur Heart J. 2007 Nov;28(22):2732-7. doi: 10.1093/eurheartj/ehm429. Epub 2007 Oct 17. Eur Heart J. 2007. PMID: 17947214

7

Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.

Wessels MW, van de Laar IM, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer DF, de Vries BB, Kerstjens-Frederikse WS, Vos YJ, de Graaf BM, Bertoli-Avella AM, Willems PJ. Wessels MW, et al. Am J Med Genet A. 2009 Feb;149A(2):216-25. doi: 10.1002/ajmg.a.32594. Am J Med Genet A. 2009. PMID: 19161153

8

Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.

Michels M, Soliman OI, Kofflard MJ, Hoedemaekers YM, Dooijes D, Majoor-Krakauer D, ten Cate FJ. Michels M, et al. JACC Cardiovasc Imaging. 2009 Jan;2(1):58-64. doi: 10.1016/j.jcmg.2008.08.003. JACC Cardiovasc Imaging. 2009. PMID: 19356534 Free article.

9

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Brusse E, Majoor-Krakauer D, de Graaf BM, Visser GH, Swagemakers S, Boon AJ, Oostra BA, Bertoli-Avella AM. Brusse E, et al. Neurogenetics. 2009 Oct;10(4):289-97. doi: 10.1007/s10048-009-0193-1. Epub 2009 Apr 24. Neurogenetics. 2009. PMID: 19396477 Free PMC article.

10

Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.

Michels M, Soliman OI, Phefferkorn J, Hoedemaekers YM, Kofflard MJ, Dooijes D, Majoor-Krakauer D, Ten Cate FJ. Michels M, et al. Eur Heart J. 2009 Nov;30(21):2593-8. doi: 10.1093/eurheartj/ehp306. Epub 2009 Aug 6. Eur Heart J. 2009. PMID: 19666645

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