Miriam A F Kamps
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Explore the profile of Miriam A F Kamps including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
139
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Recent Articles
1.
van Tienen F, Lindsey P, Kamps M, Krapels I, Ramaekers F, Brunner H, et al.
Eur J Hum Genet
. 2018 Nov;
27(3):389-399.
PMID: 30420677
The phenotypic heterogeneity of Lamin A/C (LMNA) variants renders it difficult to classify them. As a consequence, many LMNA variants are classified as variant of unknown significance (VUS). A number...
2.
Easton J, Albuloushi A, Kamps M, Brouns G, Broers J, Coull B, et al.
Exp Dermatol
. 2018 Mar;
28(10):1106-1113.
PMID: 29570224
Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated...
3.
Tamiello C, Halder M, Kamps M, Baaijens F, Broers J, Bouten C
J Cell Sci
. 2017 Jan;
130(4):779-790.
PMID: 28062850
In adherent cells, the relevance of a physical mechanotransduction pathway provided by the perinuclear actin cap stress fibers has recently emerged. Here, we investigate the impact of a functional actin...
4.
Luijten M, Basten S, Claessens T, Vernooij M, Scott C, Janssen R, et al.
Hum Mol Genet
. 2013 Jun;
22(21):4383-97.
PMID: 23784378
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder where patients are predisposed to kidney cancer, lung and kidney cysts and benign skin tumors. BHD is caused by heterozygous mutations affecting...
5.
Tamiello C, Kamps M, van den Wijngaard A, Verstraeten V, Baaijens F, Broers J, et al.
Nucleus
. 2013 Jan;
4(1):61-73.
PMID: 23324461
Laminopathies, mainly caused by mutations in the LMNA gene, are a group of inherited diseases with a highly variable penetrance; i.e., the disease spectrum in persons with identical LMNA mutations...
6.
Easton J, Donnelly S, Kamps M, Steijlen P, Martin P, Tadini G, et al.
J Invest Dermatol
. 2012 May;
132(9):2184-91.
PMID: 22592158
Porokeratotic eccrine ostial and dermal duct nevus, or porokeratotic eccrine nevus (PEN), is a hyperkeratotic epidermal nevus. Several cases of widespread involvement have been reported, including one in association with...
7.
Swelsen W, Voorter C, Tilanus M, Kamps M, van den Berg-Loonen E
Hum Immunol
. 2005 Feb;
66(2):155-63.
PMID: 15695001
An unusual haplotype was detected in a family of a caucasian transplant patient. Human leukocyte antigen (HLA) analysis of the family demonstrated the absence of HLA-A on one of the...
8.
Hopman A, Kamps M, Speel E, Schapers R, Sauter G, Ramaekers F
Am J Pathol
. 2002 Oct;
161(4):1119-25.
PMID: 12368185
Carcinoma in situ (CIS) of the urinary bladder is a flat, aggressive lesion and may be the most common precursor of invasive bladder cancer. Although chromosome 9 alterations are among...