Stefanie Sollfrank
University of Mainz
7 Papers
20 Citations
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.
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Papers
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.
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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.
23
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.
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.
Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.
Anke Adenaeuer,Stefano Barco,Alice Trinchero,Sarah Krutmann,Hanan F. Nazir,Chiara Ambaglio,Vincenzo Rocco,Ylenia Pancione,Luigi Tomao,Arlette Ruiz-Saez,M. Echenagucia,S. Alesci,Stefanie Sollfrank,Eyiuche D Ezigbo,Friederike Häuser,Karl J. Lackner,Bernhard Lämmle,Heidi Rossmann +17 more
TL;DR: In this article , the authors performed a comprehensive analysis of diagnostic, clinical, genetic, and epidemiological aspects of severe high-molecular-weight kininogen (HK) deficiency.