Monika Pierick

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We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial(More)
1571 Background: In order to assess outcomes of patients treated with chemotherapy versus a more standard approach of radiotherapy (RT), we reviewed 48 patients with newly diagnosed, partially resected or recurrent low-grade glioma (LGG) treated between 1996 and the present. METHODS Patients were divisible into three groups: those treated with(More)
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