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Items: 1 to 20 of 105

1.

Application of COLD-PCR for improved detection of NF2 mosaic mutations.

Paganini I, Mancini I, Baroncelli M, Arena G, Gensini F, Papi L, Sestini R.

J Mol Diagn. 2014 Jul;16(4):393-9. doi: 10.1016/j.jmoldx.2014.02.007. Epub 2014 May 9.

PMID:
24815379
2.
3.

NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis.

Sestini R, Provenzano A, Bacci C, Orlando C, Genuardi M, Papi L.

Genet Test. 2008 Jun;12(2):311-8. doi: 10.1089/gte.2007.0096.

PMID:
18554169
4.

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.

Sestini R, Vivarelli R, Balestri P, Ammannati F, Montali E, Papi L.

Hum Genet. 2000 Oct;107(4):366-71.

PMID:
11129337
5.

Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis.

Evans DG, Wallace AJ, Wu CL, Trueman L, Ramsden RT, Strachan T.

Am J Hum Genet. 1998 Sep;63(3):727-36.

6.

Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.

Wallace AJ, Watson CJ, Oward E, Evans DG, Elles RG.

Genet Test. 2004 Winter;8(4):368-80.

PMID:
15684865
7.

Mosaicism in sporadic neurofibromatosis 2 patients.

Kluwe L, Mautner VF.

Hum Mol Genet. 1998 Dec;7(13):2051-5.

PMID:
9817921
8.

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.

9.

[Type 2 neurofibromatosis: intergenerational differences in genetic and clinical expression].

Drouet A, Le Moigne F, Salamé D, Quesnel L, Motolese C, des Portes V, Guilloton L, Pinson S.

Arch Pediatr. 2014 Nov;21(11):1233-40. doi: 10.1016/j.arcped.2014.08.031. Epub 2014 Oct 22. French.

PMID:
25439059
10.

Misleading linkage results in an NF2 presymptomatic test owing to mosaicism.

Bijlsma EK, Wallace AJ, Evans DG.

J Med Genet. 1997 Nov;34(11):934-6.

11.

COLD-PCR: a new platform for highly improved mutation detection in cancer and genetic testing.

Li J, Makrigiorgos GM.

Biochem Soc Trans. 2009 Apr;37(Pt 2):427-32. doi: 10.1042/BST0370427. Review.

PMID:
19290875
12.
13.

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.

Contini E, Paganini I, Sestini R, Candita L, Capone GL, Barbetti L, Falconi S, Frusconi S, Giotti I, Giuliani C, Torricelli F, Benelli M, Papi L.

PLoS One. 2015 Jun 12;10(6):e0129099. doi: 10.1371/journal.pone.0129099. eCollection 2015.

14.

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.

15.

Detection of novel NF2 mutations by an RNA mismatch cleavage method.

Faudoa R, Xue Z, Lee F, Baser ME, Hung G.

Hum Mutat. 2000;15(5):474-8.

PMID:
10790209
16.
17.

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.

18.

BRAFV600E detection in melanoma is highly improved by COLD-PCR.

Pinzani P, Santucci C, Mancini I, Simi L, Salvianti F, Pratesi N, Massi D, De Giorgi V, Pazzagli M, Orlando C.

Clin Chim Acta. 2011 May 12;412(11-12):901-5. doi: 10.1016/j.cca.2011.01.014. Epub 2011 Jan 22.

PMID:
21262211
19.

Presymptomatic diagnosis for children of sporadic neurofibromatosis 2 patients: a method based on tumor analysis.

Kluwe L, Friedrich RE, Tatagiba M, Mautner VF.

Genet Med. 2002 Jan-Feb;4(1):27-30.

PMID:
11839955
20.

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas.

Sainz J, Huynh DP, Figueroa K, Ragge NK, Baser ME, Pulst SM.

Hum Mol Genet. 1994 Jun;3(6):885-91.

PMID:
7951231

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