Marcel F. Jonkman

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Mitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene conversion of one of the two mutated COL17A1 alleles.(More)
We investigate the extraction of effective color features for a content-based image retrieval (CBIR) application in dermatology. Effectiveness is measured by the rate of correct retrieval of images from four color classes of skin lesions. We employ and compare two different methods to learn favorable feature representations for this special application:(More)
The hemidesmosome is a specialized transmembrane complex that mediates the binding of epithelial cells to the underlying basement membrane. In the skin, this multiprotein structure can be regarded as the chief adhesion unit at the site of the dermal-epidermal junction. Focal adhesions are additional specialized attachment structures located between(More)
BACKGROUND Pemphigus foliaceus is an autoimmune skin disease characterized by subcorneal blistering and IgG antibodies directed against desmoglein 1. In the skin, these antibodies deposit intraepidermally. On rare occasions,an additional “lupus band” of granular depositions of IgG and complement is seen along the epidermal basement membrane zone. This(More)
BACKGROUND The demonstration of tissue-bound immunoreactants by direct immunofluorescence microscopy (DIF) is a valuable parameter in the diagnosis of various autoimmune and immunecomplex-mediated skin diseases. For preservation of tissue-bound immunoreactants, biopsies are usually fresh-frozen in liquid nitrogen or transported in Michel's fixative. But(More)
W e apply distance based classifiers in the context of a content based image retrieval task in dermatology. In the present project, only RGB color information is used. We employ two different methods in order to obtain a discriminative distance measure for classification and retrieval: Generalized Matrix LVQ (GMLVQ) and the Large Margin Nearest Neighbor(More)
Bullous pemphigoid is the most common autoimmune subepidermal blistering disease of the skin and mucous membranes. This disease typically affects the elderly and presents with itch and localized or generalized bullous lesions. In up to 20% of affected patients, bullae may be completely absent, and only excoriations, prurigo-like lesions, eczematous lesions,(More)
Apoptotic cells are thought to play an essential role in the pathogenesis of systemic lupus erythematosus (SLE). We hypothesise that delayed or altered clearance of apoptotic cells after UV irradiation will lead to inflammation in the skin of SLE patients. Fifteen SLE patients and 13 controls were irradiated with two minimal erythemal doses (MEDs) of(More)
Texture feature ranking with relevance learning to classify interstitial lung disease patterns, " [3] K. Bunte, " Adaptive dissimilarity measures, dimension reduction and visualization (university of groningen), " Künstliche Intelligenz, A general framework for dimensionality reducing data visualization using explicit mapping functions, Limited rank matrix(More)