Bianca M de Graaf
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Explore the profile of Bianca M de Graaf including associated specialties, affiliations and a list of published articles.
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20
Citations
872
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Recent Articles
11.
Bertoli-Avella A, Gillis E, Morisaki H, Verhagen J, de Graaf B, Van De Beek G, et al.
J Am Coll Cardiol
. 2015 Apr;
65(13):1324-1336.
PMID: 25835445
Background: Aneurysms affecting the aorta are a common condition associated with high mortality as a result of aortic dissection or rupture. Investigations of the pathogenic mechanisms involved in syndromic types...
12.
French V, van de Laar I, Wessels M, Rohe C, Roos-Hesselink J, Wang G, et al.
Circ Res
. 2012 May;
110(12):1564-74.
PMID: 22550138
Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other...
13.
van de Laar I, van der Linde D, Oei E, Bos P, Bessems J, Bierma-Zeinstra S, et al.
J Med Genet
. 2011 Dec;
49(1):47-57.
PMID: 22167769
Background: Aneurysms-osteoarthritis syndrome (AOS) is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence of arterial aneurysms and tortuosity, mild craniofacial, skeletal and...
14.
van de Laar I, Oldenburg R, Pals G, Roos-Hesselink J, de Graaf B, Verhagen J, et al.
Nat Genet
. 2011 Jan;
43(2):121-6.
PMID: 21217753
Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and...
15.
Brusse E, Majoor-Krakauer D, de Graaf B, Visser G, Swagemakers S, Boon A, et al.
Neurogenetics
. 2009 Apr;
10(4):289-97.
PMID: 19396477
We describe the neurological, electrophysiological, and genetic features of autosomal dominant distal hereditary motor neuronopathy (HMN) in a three-generation Dutch family, including 12 patients with distal muscle weakness and atrophy....
16.
Wessels M, van de Laar I, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer D, de Vries B, et al.
Am J Med Genet A
. 2009 Jan;
149A(2):216-25.
PMID: 19161153
Only a limited number of families with clear monogenic inheritance of nonsyndromic forms of congenital valve defects have been described. We describe two multiplex pedigrees with a similar nonsyndromic form...
17.
Bertoli-Avella A, Conte M, Punzo F, de Graaf B, Lama G, La Manna A, et al.
J Am Soc Nephrol
. 2008 Feb;
19(4):825-31.
PMID: 18235093
The SLIT2 receptor ROBO2 plays a key role in the formation of the ureteric bud, and its inactivation in mice leads to supernumerary ureteric bud development, lack of ureter remodeling,...
18.
Conte M, Bertoli-Avella A, de Graaf B, Punzo F, Lama G, La Manna A, et al.
Pediatr Nephrol
. 2008 Jan;
23(4):587-95.
PMID: 18197425
Vesicoureteral reflux (VUR) is the most common disease of the urinary tract in children. In order to identify gene(s) involved in this complex disorder, we performed a genome-wide search in...
19.
Wessels M, de Graaf B, Cohen-Overbeek T, Spitaels S, de Groot-de Laat L, Ten Cate F, et al.
Hum Genet
. 2007 Oct;
122(6):595-603.
PMID: 17938964
We report a three-generation family with nine patients affected by a combination of cardiac abnormalities and left isomerism which, to our knowledge, has not been described before. The cardiac anomalies...
20.
Van Swieten J, Brusse E, de Graaf B, Krieger E, van de Graaf R, de Koning I, et al.
Am J Hum Genet
. 2002 Dec;
72(1):191-9.
PMID: 12489043
Hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders for which >/=14 different genetic loci have been identified. In some SCA types, expanded tri- or...