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Items: 1 to 50 of 343

1.

Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.

Evans DGR, Kallionpää RA, Clementi M, Trevisson E, Mautner VF, Howell SJ, Lewis L, Zehou O, Peltonen S, Brunello A, Harkness EF, Wolkenstein P, Peltonen J.

Genet Med. 2019 Oct 8. doi: 10.1038/s41436-019-0671-2. [Epub ahead of print]

PMID:
31591510
2.

Impact of Surgery on Long-Term Results of Hearing in Neurofibromatosis Type-2 Associated Vestibular Schwannomas.

Gugel I, Grimm F, Liebsch M, Zipfel J, Teuber C, Kluwe L, Mautner VF, Tatagiba M, Schuhmann MU.

Cancers (Basel). 2019 Sep 16;11(9). pii: E1376. doi: 10.3390/cancers11091376.

3.

Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.

Evans DGR, Kallionpää RA, Clementi M, Trevisson E, Mautner VF, Howell SJ, Lewis L, Zehou O, Peltonen S, Brunello A, Harkness EF, Wolkenstein P, Peltonen J.

Genet Med. 2019 Sep 9. doi: 10.1038/s41436-019-0651-6. [Epub ahead of print] Erratum in: Genet Med. 2019 Oct 8;:.

PMID:
31495828
4.

Management of NF2-associated vestibular schwannomas in children and young adults: influence of surgery and clinical factors on tumor volume and growth rate.

Gugel I, Grimm F, Teuber C, Kluwe L, Mautner VF, Tatagiba M, Schuhmann MU.

J Neurosurg Pediatr. 2019 Aug 23:1-9. doi: 10.3171/2019.6.PEDS1947. [Epub ahead of print]

PMID:
31443078
5.

Distinctive low epidermal nerve fiber density in schwannomatosis patients provides a major parameter for diagnosis and differential diagnosis.

Farschtschi SC, Kluwe L, Schön G, Friedrich RE, Matschke J, Glatzel M, Weis J, Hagel C, Mautner VF.

Brain Pathol. 2019 Aug 19. doi: 10.1111/bpa.12780. [Epub ahead of print]

PMID:
31424590
6.

Peripheral nervous system alterations in infant and adult neurofibromatosis type 2.

Godel T, Bäumer P, Farschtschi S, Gugel I, Kronlage M, Hofstadler B, Heiland S, Gelderblom M, Bendszus M, Mautner VF.

Neurology. 2019 Aug 6;93(6):e590-e598. doi: 10.1212/WNL.0000000000007898. Epub 2019 Jul 12.

PMID:
31300546
7.

Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y.

Godel T, Bäumer P, Stumpfe K, Muschol N, Kronlage M, Brunnée M, Kollmer J, Heiland S, Bendszus M, Mautner VF.

J Neurol. 2019 Jun;266(6):1332-1339. doi: 10.1007/s00415-019-09262-8. Epub 2019 Mar 4.

PMID:
30830284
8.

Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1.

Mehlan J, Schüttauf F, Salamon JM, Kordes U, Friedrich RE, Mautner VF.

Anticancer Res. 2019 Feb;39(2):827-831. doi: 10.21873/anticanres.13181.

PMID:
30711963
9.

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.

Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, Aktaş S, Baralle D, Ben-Shachar S, Callaway A, Cox H, Eccles DM, Ferkal S, LaDuca H, Lázaro C, Rogers MT, Stuenkel AJ, Summerour P, Varan A, Yap YS, Zehou O, Peltonen J, Evans DG, Wolkenstein P, Upadhyaya M.

J Med Genet. 2019 Apr;56(4):209-219. doi: 10.1136/jmedgenet-2018-105599. Epub 2018 Dec 10.

PMID:
30530636
10.

Differentiation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1 using diffusion-weighted magnetic resonance imaging.

Well L, Salamon J, Kaul MG, Farschtschi S, Herrmann J, Geier KI, Hagel C, Bockhorn M, Bannas P, Adam G, Mautner VF, Derlin T.

Neuro Oncol. 2019 Mar 18;21(4):508-516. doi: 10.1093/neuonc/noy199.

PMID:
30496452
11.

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.

Summerer A, Schäfer E, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Genet. 2019 Jan;138(1):73-81. doi: 10.1007/s00439-018-1961-5. Epub 2018 Nov 26.

PMID:
30478644
12.

Vitamin D receptor expression and serum 25(OH)D concentration inversely associates with burden of neurofibromas.

Kluwe L, Hagel C, Friedrich RE, Schnabel C, Schön G, Mautner V.

Eur J Cancer Prev. 2019 May;28(3):220-224. doi: 10.1097/CEJ.0000000000000467.

PMID:
30299316
13.

Cerebrovascular Insult as Presenting Symptom of Neurofibromatosis Type 2 in Children, Adolescents, and Young Adults.

Gugel I, Mautner VF, Kluwe L, Tatagiba MS, Schuhmann MU.

Front Neurol. 2018 Sep 10;9:733. doi: 10.3389/fneur.2018.00733. eCollection 2018.

14.

Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease.

Godel T, Köhn A, Muschol N, Kronlage M, Schwarz D, Kollmer J, Heiland S, Bendszus M, Mautner VF, Bäumer P.

J Neurol. 2018 Nov;265(11):2723-2729. doi: 10.1007/s00415-018-9053-y. Epub 2018 Sep 12.

PMID:
30209652
15.

Testing ATRA and MEK inhibitor PD0325901 effectiveness in a nude mouse model for human MPNST xenografts.

Fischer-Huchzermeyer S, Chikobava L, Stahn V, Zangarini M, Berry P, Veal GJ, Senner V, Mautner VF, Harder A.

BMC Res Notes. 2018 Jul 28;11(1):520. doi: 10.1186/s13104-018-3630-0.

16.

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.

Hum Genet. 2018 Jul;137(6-7):543-552. doi: 10.1007/s00439-018-1909-9. Epub 2018 Jul 13.

PMID:
30006736
17.

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.

Summerer A, Mautner VF, Upadhyaya M, Claes KBM, Högel J, Cooper DN, Messiaen L, Kehrer-Sawatzki H.

Hum Genet. 2018 Jul;137(6-7):511-520. doi: 10.1007/s00439-018-1904-1. Epub 2018 Jul 10.

PMID:
29992513
18.

Cutaneous neurofibromas: Current clinical and pathologic issues.

Ortonne N, Wolkenstein P, Blakeley JO, Korf B, Plotkin SR, Riccardi VM, Miller DC, Huson S, Peltonen J, Rosenberg A, Carroll SL, Verma SK, Mautner V, Upadhyaya M, Stemmer-Rachamimov A.

Neurology. 2018 Jul 10;91(2 Suppl 1):S5-S13. doi: 10.1212/WNL.0000000000005792.

PMID:
29987130
19.

Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.

Kehrer-Sawatzki H, Kordes U, Seiffert S, Summerer A, Hagel C, Schüller U, Farschtschi S, Schneppenheim R, Bendszus M, Godel T, Mautner VF.

Mol Genet Genomic Med. 2018 May 20. doi: 10.1002/mgg3.412. [Epub ahead of print]

20.

Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.

Neuhäusler L, Summerer A, Cooper DN, Mautner VF, Kehrer-Sawatzki H.

Hum Genet. 2018 May;137(5):365-373. doi: 10.1007/s00439-018-1888-x. Epub 2018 May 5.

PMID:
29730711
21.

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.

Sellmer L, Farschtschi S, Marangoni M, Heran MKS, Birch P, Wenzel R, Mautner VF, Friedman JM.

Orphanet J Rare Dis. 2018 Apr 23;13(1):62. doi: 10.1186/s13023-018-0811-9.

22.

Dorsal root ganglia volume differentiates schwannomatosis and neurofibromatosis 2.

Godel T, Mautner VF, Farschtschi S, Pham M, Schwarz D, Kronlage M, Gugel I, Heiland S, Bendszus M, Bäumer P.

Ann Neurol. 2018 Apr;83(4):854-857. doi: 10.1002/ana.25191. Epub 2018 Mar 25.

PMID:
29469988
23.

MEK inhibitors enhance therapeutic response towards ATRA in NF1 associated malignant peripheral nerve sheath tumors (MPNST) in-vitro.

Fischer-Huchzermeyer S, Dombrowski A, Wilke G, Stahn V, Streubel A, Mautner VF, Harder A.

PLoS One. 2017 Nov 13;12(11):e0187700. doi: 10.1371/journal.pone.0187700. eCollection 2017.

24.

Motor dysfunction in NF1: Mediated by attention deficit or inherent to the disorder?

Haas-Lude K, Heimgärtner M, Winter S, Mautner VF, Krägeloh-Mann I, Lidzba K.

Eur J Paediatr Neurol. 2018 Jan;22(1):164-169. doi: 10.1016/j.ejpn.2017.10.005. Epub 2017 Oct 20.

PMID:
29111114
25.

Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification.

Hillmer M, Summerer A, Mautner VF, Högel J, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2017 Dec;38(12):1711-1722. doi: 10.1002/humu.23319. Epub 2017 Sep 22.

PMID:
28862369
26.

Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy.

Godel T, Bäumer P, Pham M, Köhn A, Muschol N, Kronlage M, Kollmer J, Heiland S, Bendszus M, Mautner VF.

Neurology. 2017 Sep 19;89(12):1274-1282. doi: 10.1212/WNL.0000000000004396. Epub 2017 Aug 23.

PMID:
28835396
27.

Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities.

Schulz A, Grafe P, Hagel C, Bäumer P, Morrison H, Mautner VF, Farschtschi S.

Exp Neurol. 2018 Jan;299(Pt B):334-344. doi: 10.1016/j.expneurol.2017.06.006. Epub 2017 Jun 3. Review.

PMID:
28587874
28.

The Cellular Retinoic Acid Binding Protein 2 Promotes Survival of Malignant Peripheral Nerve Sheath Tumor Cells.

Fischer-Huchzermeyer S, Dombrowski A, Hagel C, Mautner VF, Schittenhelm J, Harder A.

Am J Pathol. 2017 Jul;187(7):1623-1632. doi: 10.1016/j.ajpath.2017.02.021. Epub 2017 May 11.

PMID:
28502478
29.

Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Kehrer-Sawatzki H, Mautner VF, Cooper DN.

Hum Genet. 2017 Apr;136(4):349-376. doi: 10.1007/s00439-017-1766-y. Epub 2017 Feb 17. Review.

30.

Non-optic glioma in adults and children with neurofibromatosis 1.

Sellmer L, Farschtschi S, Marangoni M, Heran MK, Birch P, Wenzel R, Friedman JM, Mautner VF.

Orphanet J Rare Dis. 2017 Feb 15;12(1):34. doi: 10.1186/s13023-017-0588-2.

31.

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Kehrer-Sawatzki H, Farschtschi S, Mautner VF, Cooper DN.

Hum Genet. 2017 Feb;136(2):129-148. doi: 10.1007/s00439-016-1753-8. Epub 2016 Dec 5. Review.

32.

Creation of an international registry to support discovery in schwannomatosis.

Ostrow KL, Bergner AL, Blakeley J, Evans DG, Ferner R, Friedman JM, Harris GJ, Jordan JT, Korf B, Langmead S, Leschziner G, Mautner V, Merker VL, Papi L, Plotkin SR, Slopis JM, Smith MJ, Stemmer-Rachamimov A, Yohay K, Belzberg AJ.

Am J Med Genet A. 2017 Feb;173(2):407-413. doi: 10.1002/ajmg.a.38024. Epub 2016 Oct 19.

PMID:
27759912
33.

Current status and recommendations for biomarkers and biobanking in neurofibromatosis.

Hanemann CO, Blakeley JO, Nunes FP, Robertson K, Stemmer-Rachamimov A, Mautner V, Kurtz A, Ferguson M, Widemann BC, Evans DG, Ferner R, Carroll SL, Korf B, Wolkenstein P, Knight P, Plotkin SR; REiNS International Collaboration.

Neurology. 2016 Aug 16;87(7 Suppl 1):S40-8. doi: 10.1212/WNL.0000000000002932.

34.

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.

Neurology. 2016 Aug 16;87(7 Suppl 1):S31-9. doi: 10.1212/WNL.0000000000002929.

35.

Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.

Farschtschi S, Mautner VF, Pham M, Nguyen R, Kehrer-Sawatzki H, Hutter S, Friedrich RE, Schulz A, Morrison H, Jones DT, Bendszus M, Bäumer P.

Ann Neurol. 2016 Oct;80(4):625-8. doi: 10.1002/ana.24753. Epub 2016 Aug 13.

PMID:
27472264
36.

Effector T cell subclasses associate with tumor burden in neurofibromatosis type 1 patients.

Farschtschi S, Park SJ, Sawitzki B, Oh SJ, Kluwe L, Mautner VF, Kurtz A.

Cancer Immunol Immunother. 2016 Sep;65(9):1113-21. doi: 10.1007/s00262-016-1871-0. Epub 2016 Jul 23.

37.

Muscle action potential scans and ultrasound imaging in neurofibromatosis type 2.

Farschtschi S, Gelderblom M, Buschbaum S, Bostock H, Grafe P, Mautner VF.

Muscle Nerve. 2017 Mar;55(3):350-358. doi: 10.1002/mus.25256. Epub 2016 Dec 16.

PMID:
27422240
38.

Recurrent multilocular mandibular giant cell granuloma in neurofibromatosis type 1: Evidence for second hit mutation of NF1 gene in the jaw lesion and treatment with curettage and bone substitute materials.

Friedrich RE, Grob TJ, Hollants S, Zustin J, Spaepen M, Mautner VF, Luebke AM, Hagel C, Legius E, Brems H.

J Craniomaxillofac Surg. 2016 Aug;44(8):1054-60. doi: 10.1016/j.jcms.2016.05.010. Epub 2016 May 15.

PMID:
27316856
39.

The putative oncogene CPI-17 is up-regulated in schwannoma.

Hagel C, Dornblut C, Schulz A, Wiehl U, Friedrich RE, Huckhagel T, Mautner VF, Morrison H.

Neuropathol Appl Neurobiol. 2016 Dec;42(7):664-668. doi: 10.1111/nan.12330. No abstract available.

PMID:
27248983
40.

The importance of nerve microenvironment for schwannoma development.

Schulz A, Büttner R, Hagel C, Baader SL, Kluwe L, Salamon J, Mautner VF, Mindos T, Parkinson DB, Gehlhausen JR, Clapp DW, Morrison H.

Acta Neuropathol. 2016 Aug;132(2):289-307. doi: 10.1007/s00401-016-1583-8. Epub 2016 May 28.

41.

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A, Witt O, Korbel JO, Lichter P, Schuhmann MU, Pfister SM, Tabori U, Mautner VF, Jones DTW.

Hum Genet. 2016 May;135(5):469-475. doi: 10.1007/s00439-016-1646-x. Epub 2016 Mar 11.

PMID:
26969325
42.

Methylation-based classification of benign and malignant peripheral nerve sheath tumors.

Röhrich M, Koelsche C, Schrimpf D, Capper D, Sahm F, Kratz A, Reuss J, Hovestadt V, Jones DT, Bewerunge-Hudler M, Becker A, Weis J, Mawrin C, Mittelbronn M, Perry A, Mautner VF, Mechtersheimer G, Hartmann C, Okuducu AF, Arp M, Seiz-Rosenhagen M, Hänggi D, Heim S, Paulus W, Schittenhelm J, Ahmadi R, Herold-Mende C, Unterberg A, Pfister SM, von Deimling A, Reuss DE.

Acta Neuropathol. 2016 Jun;131(6):877-87. doi: 10.1007/s00401-016-1540-6. Epub 2016 Feb 8.

PMID:
26857854
43.

Unilateral gynaecomastia in a 16-month-old boy with neurofibromatosis type 1 - case report and brief review of the literature.

Friedrich RE, Hagel C, Mautner VF.

GMS Interdiscip Plast Reconstr Surg DGPW. 2015 Dec 3;4:Doc11. doi: 10.3205/iprs000070. eCollection 2015.

44.
45.

Impairment of Procedural Learning and Motor Intracortical Inhibition in Neurofibromatosis Type 1 Patients.

Zimerman M, Wessel MJ, Timmermann JE, Granström S, Gerloff C, Mautner VF, Hummel FC.

EBioMedicine. 2015 Sep 1;2(10):1430-7. doi: 10.1016/j.ebiom.2015.08.036. eCollection 2015 Oct.

46.

Nerve Sheath Tumors in Neurofibromatosis Type 1: Assessment of Whole-Body Metabolic Tumor Burden Using F-18-FDG PET/CT.

Salamon J, Papp L, Tóth Z, Laqmani A, Apostolova I, Adam G, Mautner VF, Derlin T.

PLoS One. 2015 Dec 1;10(12):e0143305. doi: 10.1371/journal.pone.0143305. eCollection 2015.

47.

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.

Hillmer M, Wagner D, Summerer A, Daiber M, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mol Genet. 2016 Feb 1;25(3):484-96. doi: 10.1093/hmg/ddv487. Epub 2015 Nov 27.

PMID:
26614388
48.

Bevacizumab treatment for symptomatic spinal ependymomas in neurofibromatosis type 2.

Farschtschi S, Merker VL, Wolf D, Schuhmann M, Blakeley J, Plotkin SR, Hagel C, Mautner VF.

Acta Neurol Scand. 2016 Jun;133(6):475-80. doi: 10.1111/ane.12490. Epub 2015 Sep 15.

PMID:
26369495
49.

Cerebral glucose metabolism in adults with neurofibromatosis type 1.

Apostolova I, Derlin T, Salamon J, Amthauer H, Granström S, Brenner W, Mautner VF, Buchert R.

Brain Res. 2015 Nov 2;1625:97-101. doi: 10.1016/j.brainres.2015.08.025. Epub 2015 Sep 1.

PMID:
26335059
50.

Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors.

Salamon J, Mautner VF, Adam G, Derlin T.

Rofo. 2015 Dec;187(12):1084-92. doi: 10.1055/s-0035-1553505. Epub 2015 Sep 2. Review.

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