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Items: 1 to 20 of 121

1.

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

Mills JR, Moyer AM, Kipp BR, Poplawski AB, Messiaen LM, Babovic-Vuksanovic D.

Clin Genet. 2018 Jan;93(1):187-190. doi: 10.1111/cge.13099. Epub 2017 Nov 29.

PMID:
28737257
2.

Multiple meningiomas: differential involvement of the NF2 gene in children and adults.

Evans DG, Watson C, King A, Wallace AJ, Baser ME.

J Med Genet. 2005 Jan;42(1):45-8.

3.

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.

Caltabiano R, Magro G, Polizzi A, Praticò AD, Ortensi A, D'Orazi V, Panunzi A, Milone P, Maiolino L, Nicita F, Capone GL, Sestini R, Paganini I, Muglia M, Cavallaro S, Lanzafame S, Papi L, Ruggieri M.

Childs Nerv Syst. 2017 Jun;33(6):933-940. doi: 10.1007/s00381-017-3340-2. Epub 2017 Apr 1.

PMID:
28365909
4.

Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager.

Gripp KW, Baker L, Kandula V, Piatt J, Walter A, Chen Z, Messiaen L.

Clin Genet. 2017 Nov;92(5):540-543. doi: 10.1111/cge.13013. Epub 2017 Apr 19.

PMID:
28295212
5.

Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.

Smith MJ, Higgs JE, Bowers NL, Halliday D, Paterson J, Gillespie J, Huson SM, Freeman SR, Lloyd S, Rutherford SA, King AT, Wallace AJ, Ramsden RT, Evans DG.

J Med Genet. 2011 Apr;48(4):261-5. doi: 10.1136/jmg.2010.085241. Epub 2011 Jan 28.

PMID:
21278391
6.

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.

Smith MJ, Bowers NL, Bulman M, Gokhale C, Wallace AJ, King AT, Lloyd SK, Rutherford SA, Hammerbeck-Ward CL, Freeman SR, Evans DG.

Neurology. 2017 Jan 3;88(1):87-92. doi: 10.1212/WNL.0000000000003418. Epub 2016 Nov 16. Erratum in: Neurology. 2017 Jul 11;89(2):215.

7.

Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.

Mohyuddin A, Neary WJ, Wallace A, Wu CL, Purcell S, Reid H, Ramsden RT, Read A, Black G, Evans DG.

J Med Genet. 2002 May;39(5):315-22.

8.

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.

Pathmanaban ON, Sadler KV, Kamaly-Asl ID, King AT, Rutherford SA, Hammerbeck-Ward C, McCabe MG, Kilday JP, Beetz C, Poplawski NK, Evans DG, Smith MJ.

JAMA Neurol. 2017 Sep 1;74(9):1123-1129. doi: 10.1001/jamaneurol.2017.1406.

9.

First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation.

Dewan R, Pemov A, Dutra AS, Pak ED, Edwards NA, Ray-Chaudhury A, Hansen NF, Chandrasekharappa SC, Mullikin JC, Asthagiri AR; NISC Comparative Sequencing Program, Heiss JD, Stewart DR, Germanwala AV.

BMC Cancer. 2017 Feb 13;17(1):127. doi: 10.1186/s12885-017-3127-6.

10.

Pediatric cerebellopontine angle and internal auditory canal tumors: clinical article..

Holman MA, Schmitt WR, Carlson ML, Driscoll CL, Beatty CW, Link MJ.

J Neurosurg Pediatr. 2013 Oct;12(4):317-24. doi: 10.3171/2013.6.PEDS1383. Epub 2013 Aug 2.

PMID:
23909617
11.

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.

J Neurosurg. 2006 Feb;104(2):201-7.

PMID:
16509493
12.

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

Evans DG, Ramsden RT, Gokhale C, Bowers N, Huson SM, Wallace A.

Clin Genet. 2007 Apr;71(4):354-8.

PMID:
17470137
13.

NF2 mutations in secretory and other rare variants of meningiomas.

Hartmann C, Sieberns J, Gehlhaar C, Simon M, Paulus W, von Deimling A.

Brain Pathol. 2006 Jan;16(1):15-9.

PMID:
16612978
14.

Combined molecular genetic studies of chromosome 22q and the neurofibromatosis type 2 gene in central nervous system tumors.

Ng HK, Lau KM, Tse JY, Lo KW, Wong JH, Poon WS, Huang DP.

Neurosurgery. 1995 Oct;37(4):764-73.

PMID:
8559307
15.

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.

16.

Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas.

Lekanne Deprez RH, Bianchi AB, Groen NA, Seizinger BR, Hagemeijer A, van Drunen E, Bootsma D, Koper JW, Avezaat CJ, Kley N, et al.

Am J Hum Genet. 1994 Jun;54(6):1022-9.

17.

Oncogenic PI3K mutations are as common as AKT1 and SMO mutations in meningioma.

Abedalthagafi M, Bi WL, Aizer AA, Merrill PH, Brewster R, Agarwalla PK, Listewnik ML, Dias-Santagata D, Thorner AR, Van Hummelen P, Brastianos PK, Reardon DA, Wen PY, Al-Mefty O, Ramkissoon SH, Folkerth RD, Ligon KL, Ligon AH, Alexander BM, Dunn IF, Beroukhim R, Santagata S.

Neuro Oncol. 2016 May;18(5):649-55. doi: 10.1093/neuonc/nov316. Epub 2016 Jan 28.

18.

Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.

Dewan R, Pemov A, Kim HJ, Morgan KL, Vasquez RA, Chittiboina P, Wang X, Chandrasekharappa SC, Ray-Chaudhury A, Butman JA, Stewart DR, Asthagiri AR.

Neuro Oncol. 2015 Apr;17(4):566-73. doi: 10.1093/neuonc/nou317. Epub 2014 Dec 1.

19.

The neurofibromatoses. Part 2: NF2 and schwannomatosis.

Lu-Emerson C, Plotkin SR.

Rev Neurol Dis. 2009 Summer;6(3):E81-6. Review.

PMID:
19898272
20.

Loss of chromosome 22 and absence of NF2 gene mutation in a case of multiple meningiomas.

Lomas J, Bello MJ, Alonso ME, Gonzalez-Gomez P, Arjona D, Kusak ME, de Campos JM, Sarasa JL, Rey JA.

Hum Pathol. 2002 Mar;33(3):375-8.

PMID:
11979381

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