F S van Dijk
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Explore the profile of F S van Dijk including associated specialties, affiliations and a list of published articles.
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11
Citations
479
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Recent Articles
1.
Angwin C, Byers P, Dulfer E, Ghali N, Harris J, Hausser I, et al.
Am J Med Genet A
. 2024 Dec;
197(4):e63957.
PMID: 39641471
Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature,...
2.
Angwin C, Zschocke J, Kammin T, Bjorck E, Bowen J, Brady A, et al.
Front Genet
. 2023 Jun;
14:1136339.
PMID: 37323685
Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant type of EDS characterised by severe early-onset periodontitis, lack of attached gingiva, pretibial plaques, joint hypermobility and skin hyperextensibility as per...
3.
Angwin C, Ghali N, Baker D, Brady A, Pope F, Vandersteen A, et al.
Br J Dermatol
. 2019 May;
182(3):698-707.
PMID: 31141158
Background: The Ehlers-Danlos syndromes (EDS) consist of 13 subtypes with overlapping features including joint hypermobility, skin and vascular fragility and generalized connective tissue friability. As DNA analysis has become the...
4.
Cobben J, Weiss M, van Dijk F, De Reuver R, de Kruiff C, Pondaag W, et al.
Eur J Med Genet
. 2014 Oct;
57(11-12):636-8.
PMID: 25281490
We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from...
5.
van Dijk F, Sillence D
Am J Med Genet A
. 2014 Apr;
164A(6):1470-81.
PMID: 24715559
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and...
6.
van Dijk F, Cobben J, Kariminejad A, Maugeri A, Nikkels P, van Rijn R, et al.
Mol Syndromol
. 2012 May;
2(1):1-20.
PMID: 22570641
Osteogenesis imperfecta (OI) is characterized by susceptibility to bone fractures, with a severity ranging from subtle increase in fracture frequency to prenatal fractures. The first scientific description of OI dates...
7.
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient
Setijowati E, van Dijk F, Cobben J, van Rijn R, Sistermans E, Faradz S, et al.
Eur J Med Genet
. 2011 Nov;
55(1):17-21.
PMID: 22085994
We report an Indonesian patient with bone fragility and congenital joint contractures. The initial diagnosis was Osteogenesis Imperfecta type III (OI type III) based on clinical and radiological findings. Because...
8.
van Dijk F, van Thuijl H, Wermeskerken A, van Rijn R, Cobben J
Eur J Med Genet
. 2010 Dec;
54(3):284-6.
PMID: 21167328
We report a boy with asymmetric crying facies and bilateral absence of the 5th ray of the feet. In addition, craniofacial computed tomography showed a solitary median maxillary central incisor...
9.
van Dijk F, Pals G, van Rijn R, Nikkels P, Cobben J
Eur J Med Genet
. 2009 Nov;
53(1):1-5.
PMID: 19878741
In 1979 Sillence proposed a classification of Osteogenesis Imperfecta (OI) in OI types I, II, III and IV. In 2004 and 2007 this classification was expanded with OI types V-VIII...
10.
van Dijk F, Hamel B, Hilhorst-Hofstee Y, Mulder B, Timmermans J, Pals G, et al.
Eur J Med Genet
. 2008 Dec;
52(1):1-5.
PMID: 19059503
We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family 1 has the R2726W FBN1 mutation associated with isolated skeletal features on one...