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Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Kehrer-Sawatzki H, Kluwe L, Friedrich RE, Summerer A, Schäfer E, Wahlländer U, Matthies C, Gugel I, Farschtschi S, Hagel C, Cooper DN, Mautner VF. Kehrer-Sawatzki H, et al. Among authors: farschtschi s. Hum Genet. 2018 Jul;137(6-7):543-552. doi: 10.1007/s00439-018-1909-9. Epub 2018 Jul 13. Hum Genet. 2018. PMID: 30006736 Clinical Trial.
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.
Hutter S, Piro RM, Reuss DE, Hovestadt V, Sahm F, Farschtschi S, Kehrer-Sawatzki H, Wolf S, Lichter P, von Deimling A, Schuhmann MU, Pfister SM, Jones DT, Mautner VF. Hutter S, et al. Among authors: farschtschi s. Acta Neuropathol. 2014 Sep;128(3):449-52. doi: 10.1007/s00401-014-1311-1. Epub 2014 Jul 10. Acta Neuropathol. 2014. PMID: 25008767 No abstract available.
Growth in neurofibromatosis 1 microdeletion patients.
Ning X, Farschtschi S, Jones A, Kehrer-Sawatzki H, Mautner VF, Friedman JM. Ning X, et al. Among authors: farschtschi s. Clin Genet. 2016 Mar;89(3):351-4. doi: 10.1111/cge.12632. Epub 2015 Jul 22. Clin Genet. 2016. PMID: 26111455
Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.
Ahlawat S, Fayad LM, Khan MS, Bredella MA, Harris GJ, Evans DG, Farschtschi S, Jacobs MA, Chhabra A, Salamon JM, Wenzel R, Mautner VF, Dombi E, Cai W, Plotkin SR, Blakeley JO; Whole Body MRI Committee for the REiNS International Collaboration; REiNS International Collaboration Members 2016. Ahlawat S, et al. Among authors: farschtschi s. Neurology. 2016 Aug 16;87(7 Suppl 1):S31-9. doi: 10.1212/WNL.0000000000002929. Neurology. 2016. PMID: 27527647 Free PMC article.
47 results