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Stefanie Sollfrank
Researcher at University of Mainz
Publications - 7
Citations - 67
Stefanie Sollfrank is an academic researcher from University of Mainz. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 3, co-authored 4 publications receiving 45 citations.
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Journal ArticleDOI
Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).
Julia K. Bickmann,Stefanie Sollfrank,Arno Schad,Thomas J. Musholt,Erik Springer,Matthias Miederer,Oliver Bartsch,Konstantinos Papaspyrou,Dimitrios Koutsimpelas,Wolf J. Mann,Matthias M. Weber,Karl J. Lackner,Heidi Rossmann,Christian Fottner +13 more
TL;DR: The present case shows that SDHC germline mutations can have highly variable phenotypes and may cause malignant PGL, although malignancy is probably rare.
Journal ArticleDOI
Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.
Anne Bergougnoux,Valeria D'Argenio,Stefanie Sollfrank,Fanny Verneau,Antonella Telese,Irene Postiglione,Karl J. Lackner,Mireille Claustres,Giuseppe Castaldo,Heidi Rossmann,Francesco Salvatore,Caroline Raynal +11 more
TL;DR: Because different types of CFTR mutations can be detected in a single workflow, the CFTR MASTR assay simplifies the overall process and is consequently well suited for routine diagnostics.
Journal ArticleDOI
Severe plasma prekallikrein deficiency: Clinical characteristics, novel KLKB1 mutations, and estimated prevalence.
Stefano Barco,Stefano Barco,Stefanie Sollfrank,Alice Trinchero,Alice Trinchero,Anke Adenaeuer,Hassan Abolghasemi,Hassan Abolghasemi,Laura Conti,Friederike Häuser,Johanna A. Kremer Hovinga,Karl J. Lackner,Felicia Loewecke,Erwin Miloni,Nader Vazifeh Shiran,Luigi Tomao,Walter A. Wuillemin,Barbara Zieger,Bernhard Lämmle,Bernhard Lämmle,Bernhard Lämmle,Heidi Rossmann +21 more
TL;DR: Severe plasma prekallikrein deficiency is an autosomal‐recessive defect characterized by isolated activated partial thromboplastin time prolongation and its prevalence remains unknown.
Journal ArticleDOI
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.
Friederike Häuser,Seyfullah Gökce,Gesa Werner,Sven Danckwardt,Stefanie Sollfrank,Carolin Neukirch,Vera Beyer,Julia B. Hennermann,Karl J. Lackner,Eugen Mengel,Heidi Rossmann +10 more
TL;DR: A simple, non-invasive assay is developed for the detection and characterization of potential splicing variants in a patient with Pompe disease and can be used to screen for any mis-spliced transcripts prone to NMD.
Journal ArticleDOI
Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant
Kerstin Jurk,Anke Adenaeuer,Stefanie Sollfrank,Kathrin Gross,Friederike Häuser,Andreas Czwalinna,J. Erkel,Nele Fritsch,D Marandiuc,Martin Schaller,Karl J. Lackner,Heidi Rossmann,Frauke Bergmann +12 more
TL;DR: Flow cytometry and electron microscopy analysis supported a combined α-/δ (AN-subtype)-storage pool deficiency as cause for impaired agonist-induced platelet aggregation and granule exocytosis and the absence of BCAM in the index and its low expression in the daughter confirmed a less obvious effect of defective GATA1 also on erythrocytes.