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Items: 1 to 20 of 240

1.

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

Mußotter T, Kluwe L, Högel J, Nguyen R, Cooper DN, Mautner VF, Kehrer-Sawatzki H.

BMC Med Genet. 2012 Oct 26;13:98. doi: 10.1186/1471-2350-13-98.

2.

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, Laurendeau I, Melin L, Ferkal S, Hernandez L, Leroy K, Valeyrie-Allanore L, Parfait B, Vidaud D, Bièche I, Lantieri L, Wolkenstein P, Vidaud M; NF France Network.

J Natl Cancer Inst. 2011 Nov 16;103(22):1713-22. doi: 10.1093/jnci/djr416. Epub 2011 Oct 27.

PMID:
22034633
3.

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors.

Beert E, Brems H, Daniëls B, De Wever I, Van Calenbergh F, Schoenaers J, Debiec-Rychter M, Gevaert O, De Raedt T, Van Den Bruel A, de Ravel T, Cichowski K, Kluwe L, Mautner V, Sciot R, Legius E.

Genes Chromosomes Cancer. 2011 Dec;50(12):1021-32. doi: 10.1002/gcc.20921. Epub 2011 Aug 24.

PMID:
21987445
4.

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Upadhyaya M, Spurlock G, Monem B, Thomas N, Friedrich RE, Kluwe L, Mautner V.

Hum Mutat. 2008 Aug;29(8):E103-11. doi: 10.1002/humu.20793.

PMID:
18484666
5.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.

Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D; members of the NF France Network.

Hum Mutat. 2010 Jun;31(6):E1506-18. doi: 10.1002/humu.21271.

6.

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF.

Hum Mutat. 2002 Mar;19(3):309.

PMID:
11857752
7.

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF.

Am J Hum Genet. 2004 Sep;75(3):410-23. Epub 2004 Jul 15.

8.

Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas.

Kluwe L, Friedrich RE, Mautner VF.

Cancer Genet Cytogenet. 1999 Aug;113(1):65-9.

PMID:
10459349
9.

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.

J Invest Dermatol. 2009 Mar;129(3):615-21. doi: 10.1038/jid.2008.274. Epub 2008 Sep 18.

10.

Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene.

Däschner K, Assum G, Eisenbarth I, Krone W, Hoffmeyer S, Wortmann S, Heymer B, Kehrer-Sawatzki H.

Biochem Biophys Res Commun. 1997 May 19;234(2):346-50.

PMID:
9177273
11.

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1.

Rasmussen SA, Overman J, Thomson SA, Colman SD, Abernathy CR, Trimpert RE, Moose R, Virdi G, Roux K, Bauer M, Rojiani AM, Maria BL, Muir D, Wallace MR.

Genes Chromosomes Cancer. 2000 Aug;28(4):425-31.

PMID:
10862051
12.

Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Kehrer-Sawatzki H, Mautner VF, Cooper DN.

Hum Genet. 2017 Apr;136(4):349-376. doi: 10.1007/s00439-017-1766-y. Epub 2017 Feb 17. Review.

15.

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

Ars E, Serra E, García J, Kruyer H, Gaona A, Lázaro C, Estivill X.

Hum Mol Genet. 2000 Jan 22;9(2):237-47. Erratum in: Hum Mol Genet 2000 Mar 1;9(4):659.

PMID:
10607834
16.

Molecular profiles of neurofibromatosis type 1-associated plexiform neurofibromas: identification of a gene expression signature of poor prognosis.

Lévy P, Bièche I, Leroy K, Parfait B, Wechsler J, Laurendeau I, Wolkenstein P, Vidaud M, Vidaud D.

Clin Cancer Res. 2004 Jun 1;10(11):3763-71.

17.

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.

Leppig KA, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K.

Am J Med Genet. 1997 Dec 12;73(2):197-204.

PMID:
9409873
18.

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.

Colman SD, Williams CA, Wallace MR.

Nat Genet. 1995 Sep;11(1):90-2.

PMID:
7550323
19.

TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.

Park GH, Lee SJ, Yim H, Han JH, Kim HJ, Sohn YB, Ko JM, Jeong SY.

Oncol Rep. 2014 Oct;32(4):1347-54. doi: 10.3892/or.2014.3379. Epub 2014 Aug 4.

20.

Recent advances in neurofibromatosis type 1.

Arun D, Gutmann DH.

Curr Opin Neurol. 2004 Apr;17(2):101-5. Review.

PMID:
15021234

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