C Marcelis
Overview
Explore the profile of C Marcelis including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
8
Citations
69
Followers
0
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Recent Articles
1.
Wincent J, Bruno D, van Bon B, Bremer A, Stewart H, Bongers E, et al.
Mol Syndromol
. 2011 Dec;
1(5):246-254.
PMID: 22140377
The chromosome region 22q11.2 has long been recognized to be susceptible to genomic rearrangement. More recently, this genomic instability has been shown to extend distally (involving LCR22E-H) to the commonly...
2.
Dai J, Kim O, Cho T, Schmidt-Rimpler M, Tonoki H, Takikawa K, et al.
J Med Genet
. 2010 Jun;
47(10):704-9.
PMID: 20577006
Background: Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a spectrum of skeletal dysplasias that includes brachyolmia, spondylometaphyseal dysplasia, Kozlowski...
3.
Drijvers J, Lefeber D, De Munnik S, Pfundt R, van de Leeuw N, Marcelis C, et al.
Clin Genet
. 2010 May;
77(5):507-9.
PMID: 20447155
No abstract available.
4.
Schuurs-Hoeijmakers J, Vermeer S, van Bon B, Pfundt R, Marcelis C, de Brouwer A, et al.
J Med Genet
. 2009 Jun;
46(6):421-3.
PMID: 19487540
No abstract available.
5.
Hassink R, Grosfeld M, Marcelis C, Delhaas T, Doevendans P
Ned Tijdschr Geneeskd
. 2003 Jul;
147(24):1181-4.
PMID: 12845840
In a 55-year-old man, his two sons aged 32 and 30 years and a 3-year-old grandchild, a gene mutation related to an increased chance of hypertrophic cardiomyopathy was found. The...
6.
Marcelis C, Schrander-Stumpel C, Engelen J, Willemse A, Beemer F, Sigaudy S, et al.
Genet Couns
. 2001 May;
12(1):35-48.
PMID: 11332977
Wolf-Hirschhorn syndrome (WHS) or 4p-deletion syndrome has been extensively described in children. Knowledge on adult WHS patients is still limited due to the small number of published cases. We present...
7.
Engelen J, Marcelis C, Herbergs J, Weber J, Alofs M, Albrechts J, et al.
Am J Med Genet
. 2000 Jun;
92(5):318-21.
PMID: 10861660
In a 6-year-old girl referred because of mild motor delay and hyperextensible joints, chromosome analysis disclosed a derivative chromosome consisting of end-to-end fusion of chromosomes 2 and 14. Two cell...
8.
Schrander J, Marcelis C, de Vries M
Br J Rheumatol
. 1997 Aug;
36(8):905-8.
PMID: 9291861
Sixty children with juvenile chronic arthritis (JCA) have been examined at the paediatric rheumatology out-patient clinic in Maastricht, of whom three ultimately appeared to have a food intolerance. In one...