Mautner VF - Search Results

1

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Among authors: mautner vf. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.

2

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study.

Mautner VF, Baser ME, Thakkar SD, Feigen UM, Friedman JM, Kluwe L. Mautner VF, et al. J Neurosurg. 2002 Feb;96(2):223-8. doi: 10.3171/jns.2002.96.2.0223. J Neurosurg. 2002. PMID: 11838794

3

Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.

Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF. Kehrer-Sawatzki H, et al. Among authors: mautner vf. Hum Genet. 2005 May;116(6):466-75. doi: 10.1007/s00439-005-1265-4. Epub 2005 Mar 18. Hum Genet. 2005. PMID: 15776250

4

Unilateral vestibular schwannoma with other neurofibromatosis type 2-related tumors: clinical and molecular study of a unique phenotype.

Aghi M, Kluwe L, Webster MT, Jacoby LB, Barker FG 2nd, Ojemann RG, Mautner VF, MacCollin M. Aghi M, et al. Among authors: mautner vf. J Neurosurg. 2006 Feb;104(2):201-7. doi: 10.3171/jns.2006.104.2.201. J Neurosurg. 2006. PMID: 16509493

5

Early primary tooth eruption in neurofibromatosis 1 individuals.

Lammert M, Friedrich RE, Friedman JM, Mautner VF, Tucker T. Lammert M, et al. Among authors: mautner vf. Eur J Oral Sci. 2007 Oct;115(5):425-6. doi: 10.1111/j.1600-0722.2007.00474.x. Eur J Oral Sci. 2007. PMID: 17850432 No abstract available.

6

Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region.

Kehrer-Sawatzki H, Schmid E, Fünsterer C, Kluwe L, Mautner VF. Kehrer-Sawatzki H, et al. Among authors: mautner vf. Am J Med Genet A. 2008 Mar 15;146A(6):691-9. doi: 10.1002/ajmg.a.32045. Am J Med Genet A. 2008. PMID: 18265407

7

Mechanisms of loss of heterozygosity in neurofibromatosis type 1-associated plexiform neurofibromas.

Steinmann K, Kluwe L, Friedrich RE, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Steinmann K, et al. Among authors: mautner vf. J Invest Dermatol. 2009 Mar;129(3):615-21. doi: 10.1038/jid.2008.274. Epub 2008 Sep 18. J Invest Dermatol. 2009. PMID: 18800150 Free article.

8

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

Roehl AC, Cooper DN, Kluwe L, Helbrich A, Wimmer K, Högel J, Mautner VF, Kehrer-Sawatzki H. Roehl AC, et al. Among authors: mautner vf. Hum Mutat. 2010 Mar;31(3):325-34. doi: 10.1002/humu.21191. Hum Mutat. 2010. PMID: 20052761

9

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers.

Kissil JL, Blakeley JO, Ferner RE, Huson SM, Kalamarides M, Mautner VF, McCormick F, Morrison H, Packer R, Ramesh V, Ratner N, Rauen KA, Stevenson DA, Hunter-Schaedle K, North K. Kissil JL, et al. Among authors: mautner vf. Am J Med Genet A. 2010 Feb;152A(2):269-83. doi: 10.1002/ajmg.a.33189. Am J Med Genet A. 2010. PMID: 20082461 Free PMC article.

10

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H. Bengesser K, et al. Among authors: mautner vf. Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254. Hum Mutat. 2010. PMID: 20506354

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