Publications by authors named "J Bullerdiek"

There is no doubt that genetic factors of the host play a role in susceptibility to infectious diseases. An association between ABO blood groups and SARS-CoV-2 infection as well as the severity of COVID-19 has been suggested relatively early during the pandemic and gained enormously high public interest. It was postulated that blood group A predisposes to a higher risk of infection as well as to a much higher risk of severe respiratory disease and that people with blood group O are less frequently and less severely affected by the disease.

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Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene leading to a massive cholesterol accumulation. Here, we describe the generation of induced pluripotent stem cells (iPSCs) of an affected female adult individual carrying the NPC1 mutation p.Val1023Serfs*15/p.

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Background: Periductal stromal tumors of the breast are exceedingly rare biphasic breast tumors with close morphological relationship to phyllodes tumors. So far, results of genetic analyses on these tumors have not been reported.

Case Presentation: A 50 year old female patient was admitted to the hospital because of a palpable lump in her right breast with a diameter of approximately 5-6 cm which was surgically removed by lumpectomy.

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