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Biomedical subjects

B Blaumeiser

Publications and source records attributed to B Blaumeiser.

7 recordsLinked to original sources
PubMed2006

Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.

We present a Belgian Adams-Oliver syndrome (AOS) family with 10 affected individuals over four generations, of which six were available for this study. Clinical symptoms observed in these patients were very variable as previously reported in other families and included large areas of alopecia on the vertex of the skull and serious limb reduction defects with agenesis of all toes of one foot. To identify the disease-causing gene, we sequenced the MSX1, CART1, P63 (P73L), RUNX2, and HOXD13 genes in this family and nine previously reported families, but no disease-causing mutations were found. Further investigation is ongoing in these families in order to identify the genetic cause of AOS.

DNA Mutational Analysis↗
PubMed2006

Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata.

A recent study has suggested that the g.961C >G (p.Ser278Arg) variant of the autoimmune regulator (AIRE) gene contributes to susceptibility to alopecia areata (AA). We attempted to replicate this finding using a case-control sample of Belgian-German origin (273 patients and 283 controls). Despite adequate power, our study results do not support a significant association of the risk allele in our AA patient sample. This remained the case when we stratified our sample according to severity and family history of disease. Our study results do not support the hypothesis that the g.961C >G (p.Ser278Arg) polymorphism of the AIRE gene is associated with an increased risk for AA.

Alleles↗
PubMed2001

Invasive papillary carcinoma of the male breast.

Intracystic papillary carcinoma of the male breast is a very rare disease with only a few cases reported in the literature. A case is described and the additional value of MRI is discussed. To our knowledge, this is the first report regarding the MRI findings of an intracystic papillary carcinoma of the male breast.

Aged↗
PubMed2000

[Primary malignant melanoma of the female urethra].

Primary malignant melanomas of the urethra are extremely rare. Clinically they are usually mistaken for other malignant diseases or even benign lesions. The case of a 66-year-old woman is reported, who presented with local bleeding of the urethra. Macroscopically a polypoid tumor was seen on the meatus externus of the urethra. A biopsy was taken and the histology report revealed a malignant melanoma. There were no signs of metastases and therefore the treatment consisted of a wide local excision only. A review of literature regarding therapy and prognosis is presented.

Aged↗