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Results: 1 to 20 of 26

Cited In for PubMed (Select 8755919)


Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2.

Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF.

J Neurol. 2014 May;261(5):963-9. doi: 10.1007/s00415-014-7303-1. Epub 2014 Mar 12.


A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

Zemmoura I, Vourc'h P, Paubel A, Parfait B, Cohen J, Bilan F, Kitzis A, Rousselot C, Parker F, François P, Andres CR.

Neuro Oncol. 2014 Jan;16(2):250-5. doi: 10.1093/neuonc/not165. Epub 2013 Dec 18.


Association between mutation of the NF2 gene and monosomy 22 in menopausal women with sporadic meningiomas.

Tabernero M, Jara-Acevedo M, Nieto AB, Caballero AR, Otero A, Sousa P, Gonçalves J, Domingues PH, Orfao A.

BMC Med Genet. 2013 Oct 30;14:114. doi: 10.1186/1471-2350-14-114.


Extradural spinal schwannoma in 12 year old child : a case report.

Jeng TC, Abdullah JM, George J, Tharakan Kj J, Casilda S, Ghazali MM, Jaafar H, Salmah WM.

Malays J Med Sci. 2005 Jul;12(2):60-3.


Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

Davidson TB, Sanchez-Lara PA, Randolph LM, Krieger MD, Wu SQ, Panigrahy A, Shimada H, Erdreich-Epstein A.

BMC Med Genet. 2012 Mar 22;13:19. doi: 10.1186/1471-2350-13-19. Review.


Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms.

Carroll SL.

Acta Neuropathol. 2012 Mar;123(3):321-48. doi: 10.1007/s00401-011-0928-6. Epub 2011 Dec 11. Review.


Genetic analysis for early diagnosis of otorhinolaryngeal diseases.

Propping P.

GMS Curr Top Otorhinolaryngol Head Neck Surg. 2008;7:Doc02. Epub 2010 Oct 7.


Effects of splicing mutations on NF2-transcripts: transcript analysis and information theoretic predictions.

Ellis JR Jr, Heinrich B, Mautner VF, Kluwe L.

Genes Chromosomes Cancer. 2011 Aug;50(8):571-84. doi: 10.1002/gcc.20876. Epub 2011 May 11.


Neurofibromatosis type 2 (NF2): a clinical and molecular review.

Evans DG.

Orphanet J Rare Dis. 2009 Jun 19;4:16. doi: 10.1186/1750-1172-4-16. Review.


The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.

Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lázaro C, Joncourt F, Parry DM, Rouleau GA, Evans DG.

J Med Genet. 2005 Jul;42(7):540-6. Review.


Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

Baser ME, Kuramoto L, Joe H, Friedman JM, Wallace AJ, Gillespie JE, Ramsden RT, Evans DG.

Am J Hum Genet. 2004 Aug;75(2):231-9. Epub 2004 Jun 9.


Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation.

Warren C, James LA, Ramsden RT, Wallace A, Baser ME, Varley JM, Evans DG.

J Med Genet. 2003 Nov;40(11):802-6.


Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.

Kluwe L, Mautner V, Heinrich B, Dezube R, Jacoby LB, Friedrich RE, MacCollin M.

J Med Genet. 2003 Feb;40(2):109-14.


Predictors of the risk of mortality in neurofibromatosis 2.

Baser ME, Friedman JM, Aeschliman D, Joe H, Wallace AJ, Ramsden RT, Evans DG.

Am J Hum Genet. 2002 Oct;71(4):715-23. Epub 2002 Aug 22.


The neurofibromatosis type 2 gene is mutated in perineurial cell tumors: a molecular genetic study of eight cases.

Lasota J, Fetsch JF, Wozniak A, Wasag B, Sciot R, Miettinen M.

Am J Pathol. 2001 Apr;158(4):1223-9.


Neurofibromatosis type 2.

Evans DG, Sainio M, Baser ME.

J Med Genet. 2000 Dec;37(12):897-904. Review. Erratum in: J Med Genet 2001 Oct;38(10):727a.


Paediatric presentation of type 2 neurofibromatosis.

Evans DG, Birch JM, Ramsden RT.

Arch Dis Child. 1999 Dec;81(6):496-9.


Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengüt S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P.

Am J Hum Genet. 1999 Jun;64(6):1617-31.

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