Background Image
Previous Page  90 / 106 Next Page
Information
Show Menu
Previous Page 90 / 106 Next Page
Page Background

90

[20]G. A. Rouleau, P. Merel, M. Lutchman, M. Sanson, J. Zucman, C. Marineau, K. Hoang-Xuan, S. Demczuk,

C. Desmaze, and B. Plougastel, “Alteration in a new gene encoding a putative membrane-organizing

protein causes neuro-fibromatosis type 2,”

Nature

, vol. 363, no. 6429, pp. 515–521, Jun. 1993.

[21]M. Ruggieri and S. M. Huson, “The clinical and diagnostic implications of mosaicism in the

neurofibromatoses,”

Neurology

, vol. 56, no. 11, pp. 1433–1443, Jun. 2001.

[22]D. G. Evans, “Neurofibromatosis type 2 (NF2): a clinical and molecular review,”

Orphanet J. Rare Dis.

, vol.

4, p. 16, 2009.

[23] S. K. Selvanathan, A. Shenton, R. Ferner, A. J. Wallace, S. M. Huson, R. T. Ramsden, and D. G. Evans,

“Further genotype-phenotype correlations in neurofibromatosis 2,”

Clin Genet

, 2009.

[24]D. M. Parry, M. M. MacCollin, M. I. Kaiser-Kupfer, K. Pulaski, H. S. Nicholson, M. Bolesta, R. Eldridge, and

J. F. Gusella, “Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity

and retinal abnormalities,”

Am. J. Hum. Genet.

, vol. 59, no. 3, pp. 529–539, Sep. 1996.

[25]D. G. Evans, L. Trueman, A. Wallace, S. Collins, and T. Strachan, “Genotype/phenotype correlations in

type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating

mutations,”

J. Med. Genet.

, vol. 35, no. 6, pp. 450–455, Jun. 1998.

[26]M. E. Baser, L. Kuramoto, R. Woods, H. Joe, J. M. Friedman, A. J. Wallace, R. T. Ramsden, S. Olschwang, E.

Bijlsma, M. Kalamarides, L. Papi, R. Kato, J. Carroll, C. Lázaro, F. Joncourt, D. M. Parry, G. A. Rouleau, and

D. G. R. Evans, “The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is

associated with the severity of NF2,”

J. Med. Genet.

, vol. 42, no. 7, pp. 540–546, Jul. 2005.

[27]A. R. Asthagiri, D. M. Parry, J. A. Butman, H. J. Kim, E. T. Tsilou, Z. Zhuang, and R. R. Lonser,

“Neurofibromatosis type 2,”

Lancet

, vol. 373, no. 9679, pp. 1974–86, 2009.

[28] I. Ahronowitz, W. Xin, R. Kiely, K. Sims, M. MacCollin, and F. P. Nunes, “Mutational spectrum of the NF2

gene: a meta-analysis of 12 years of research and diagnostic laboratory findings,”

Hum. Mutat.

, vol. 28,

no. 1, pp. 1–12, Jan. 2007.

[29] K. D. Hadfield, W. G. Newman, N. L. Bowers, A. Wallace, C. Bolger, A. Colley, E. McCann, D. Trump, T.

Prescott, and D. G. R. Evans, “Molecular characterisation of SMARCB1 and NF2 in familial and sporadic

schwannomatosis,”

J. Med. Genet.

, vol. 45, no. 6, pp. 332–339, Jun. 2008.

[30]A. Piotrowski, J. Xie, Y. F. Liu, A. B. Poplawski, A. R. Gomes, P. Madanecki, C. Fu, M. R. Crowley, D. K.

Crossman, L. Armstrong, D. Babovic-Vuksanovic, A. Bergner, J. O. Blakeley, A. L. Blumenthal, M. S.

Daniels, H. Feit, K. Gardner, S. Hurst, C. Kobelka, C. Lee, R. Nagy, K. A. Rauen, J. M. Slopis, P. Suwannarat,

J. A. Westman, A. Zanko, B. R. Korf, and L. M. Messiaen, “Germline loss-of-function mutations in LZTR1

predispose to an inherited disorder of multiple schwannomas,”

Nat. Genet.

, vol. 46, no. 2, pp. 182–187,

Feb. 2014.

[31]D. G. R. Evans, R. T. Ramsden, A. Shenton, C. Gokhale, N. L. Bowers, S. M. Huson, G. Pichert, and A.

Wallace, “Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of

vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-

dependent probe amplification,”

J. Med. Genet.

, vol. 44, no. 7, pp. 424–428, Jul. 2007.

[32]D. G. Evans and A. Wallace, “An update on age related mosaic and offspring risk in neurofibromatosis 2

(NF2),”

J Med Genet

, vol. 46, no. 11, p. 792, 2009.

[33]D. G. Evans, F. L. Raymond, J. G. Barwell, and D. Halliday, “Genetic testing and screening of individuals at

risk of NF2,”

Clin. Genet.

, vol. 82, no. 5, pp. 416–424, Nov. 2012.

[34]D. M. Parry, R. Eldridge, M. I. Kaiser-Kupfer, E. A. Bouzas, A. Pikus, and N. Patronas, “Neurofibromatosis

2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity,”

Am. J.

Med. Genet.

, vol. 52, no. 4, pp. 450–461, Oct. 1994.

[35]M. MacCollin and V. F. Mautner, “The diagnosis and management of neurofibromatosis 2 in childhood,”

Semin. Pediatr. Neurol.

, vol. 5, no. 4, pp. 243–252, Dec. 1998.

[36]M. V. Santos, L. Furlanetti, E. T. Valera, M. S. Brassesco, L. G. Tone, and R. S. Oliveira, “Pediatric

meningiomas: a single-center experience with 15 consecutive cases and review of the literature,”

Childs

Nerv. Syst.

, vol. 28, no. 11, pp. 1887–1896, Jun. 2012.