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Results: 1 to 20 of 49

1.

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.

Hamby SE, Reviriego P, Cooper DN, Upadhyaya M, Chuzhanova N.

Hum Genomics. 2013 Aug 15;7:18. doi: 10.1186/1479-7364-7-18.

PMID:
23947441
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma.

Bolcekova A, Nemethova M, Zatkova A, Hlinkova K, Pozgayova S, Hlavata A, Kadasi L, Durovcikova D, Gerinec A, Husakova K, Pavlovicova Z, Holobrada M, Kovacs L, Ilencikova D.

Neoplasma. 2013;60(6):655-65. doi: 10.4149/neo_2013_084.

PMID:
23906300
[PubMed - indexed for MEDLINE]
3.

NF1 deletion generates multiple subtypes of soft-tissue sarcoma that respond to MEK inhibition.

Dodd RD, Mito JK, Eward WC, Chitalia R, Sachdeva M, Ma Y, Barretina J, Dodd L, Kirsch DG.

Mol Cancer Ther. 2013 Sep;12(9):1906-17. doi: 10.1158/1535-7163.MCT-13-0189. Epub 2013 Jul 15.

PMID:
23858101
[PubMed - indexed for MEDLINE]
4.

MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis.

Masliah-Planchon J, Pasmant E, Luscan A, Laurendeau I, Ortonne N, Hivelin M, Varin J, Valeyrie-Allanore L, Dumaine V, Lantieri L, Leroy K, Parfait B, Wolkenstein P, Vidaud M, Vidaud D, Bièche I.

BMC Genomics. 2013 Jul 13;14:473. doi: 10.1186/1471-2164-14-473.

PMID:
23848554
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond.

Welander J, Söderkvist P, Gimm O.

Endocr Relat Cancer. 2013 Jul 4;20(4):C13-7. doi: 10.1530/ERC-13-0046. Print 2013 Aug.

PMID:
23756430
[PubMed - indexed for MEDLINE]
6.

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Ko JM, Sohn YB, Jeong SY, Kim HJ, Messiaen LM.

Pediatr Neurol. 2013 Jun;48(6):447-53. doi: 10.1016/j.pediatrneurol.2013.02.004.

PMID:
23668869
[PubMed - indexed for MEDLINE]
7.

Identifying the Ubiquitin Ligase complex that regulates the NF1 tumor suppressor and Ras.

Hollstein PE, Cichowski K.

Cancer Discov. 2013 Aug;3(8):880-93. doi: 10.1158/2159-8290.CD-13-0146. Epub 2013 May 9.

PMID:
23661552
[PubMed - indexed for MEDLINE]
8.

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.

Campos B, Balmaña J, Gardenyes J, Valenzuela I, Abad O, Fàbregas P, Volpini V, Díez O.

Breast Cancer Res Treat. 2013 Jun;139(2):597-602. doi: 10.1007/s10549-013-2538-6. Epub 2013 Apr 27.

PMID:
23624750
[PubMed - indexed for MEDLINE]
9.

Mosaic deletion of the NF1 gene in a patient with cognitive disability and dysmorphic features but without diagnostic features of NF1.

Taylor Tavares AL, Willatt L, Armstrong R, Simonic I, Park SM.

Am J Med Genet A. 2013 May;161A(5):1185-8. doi: 10.1002/ajmg.a.35853. Epub 2013 Mar 26. Review. No abstract available.

PMID:
23532973
[PubMed - indexed for MEDLINE]
10.

NF1 gene silencing induces upregulation of vascular endothelial growth factor expression in both Schwann and non-Schwann cells.

Kawachi Y, Maruyama H, Ishitsuka Y, Fujisawa Y, Furuta J, Nakamura Y, Ichikawa E, Furumura M, Otsuka F.

Exp Dermatol. 2013 Apr;22(4):262-5. doi: 10.1111/exd.12115.

PMID:
23528211
[PubMed - indexed for MEDLINE]
11.

An unholy alliance: cooperation between BRAF and NF1 in melanoma development and BRAF inhibitor resistance.

Gibney GT, Smalley KS.

Cancer Discov. 2013 Mar;3(3):260-3. doi: 10.1158/2159-8290.CD-13-0017.

PMID:
23475878
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS.

Reuss DE, Mucha J, Hagenlocher C, Ehemann V, Kluwe L, Mautner V, von Deimling A.

PLoS One. 2013;8(2):e57152. doi: 10.1371/journal.pone.0057152. Epub 2013 Feb 21.

PMID:
23437333
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

RAS/MEK-independent gene expression reveals BMP2-related malignant phenotypes in the Nf1-deficient MPNST.

Sun D, Haddad R, Kraniak JM, Horne SD, Tainsky MA.

Mol Cancer Res. 2013 Jun;11(6):616-27. doi: 10.1158/1541-7786.MCR-12-0593. Epub 2013 Feb 19.

PMID:
23423222
[PubMed - indexed for MEDLINE]
14.

Four-year follow-up study in a NF1 boy with a focal pontine hamartoma.

Parisi P, Persechino S, Paolino MC, Nicita F, Torrente I, Bozzao A, Villa MP.

Ital J Pediatr. 2013 Feb 11;39:10. doi: 10.1186/1824-7288-39-10.

PMID:
23399325
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Probe-based quantitative PCR assay for detecting constitutional and somatic deletions in the NF1 gene: application to genetic testing and tumor analysis.

Terribas E, Garcia-Linares C, Lázaro C, Serra E.

Clin Chem. 2013 Jun;59(6):928-37. doi: 10.1373/clinchem.2012.194217. Epub 2013 Feb 5.

PMID:
23386700
[PubMed - indexed for MEDLINE]
16.

A novel neurofibromin (NF1) interaction with the leucine-rich pentatricopeptide repeat motif-containing protein links neurofibromatosis type 1 and the French Canadian variant of Leigh's syndrome in a common molecular complex.

Arun V, Wiley JC, Kaur H, Kaplan DR, Guha A.

J Neurosci Res. 2013 Apr;91(4):494-505. doi: 10.1002/jnr.23189. Epub 2013 Jan 30.

PMID:
23361976
[PubMed - indexed for MEDLINE]
17.

A new NF1 variant in a patient with atypical manifestations.

Onitilo AA, Engel JM.

Am J Med Genet A. 2013 Feb;161A(2):389-92. doi: 10.1002/ajmg.a.35728. Epub 2013 Jan 15. No abstract available.

PMID:
23322702
[PubMed - indexed for MEDLINE]
18.

NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

Park HJ, Lee SJ, Sohn YB, Jin HS, Han JH, Kim YB, Yim H, Jeong SY.

Int J Oncol. 2013 Feb;42(2):657-66. doi: 10.3892/ijo.2012.1751. Epub 2012 Dec 24.

PMID:
23292448
[PubMed - indexed for MEDLINE]
19.

A genome-scale RNA interference screen implicates NF1 loss in resistance to RAF inhibition.

Whittaker SR, Theurillat JP, Van Allen E, Wagle N, Hsiao J, Cowley GS, Schadendorf D, Root DE, Garraway LA.

Cancer Discov. 2013 Mar;3(3):350-62. doi: 10.1158/2159-8290.CD-12-0470. Epub 2013 Jan 3.

PMID:
23288408
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Cardiac characterization of 16 patients with large NF1 gene deletions.

Nguyen R, Mir TS, Kluwe L, Jett K, Kentsch M, Mueller G, Kehrer-Sawatzki H, Friedman JM, Mautner VF.

Clin Genet. 2013 Oct;84(4):344-9. doi: 10.1111/cge.12072. Epub 2012 Dec 28.

PMID:
23278345
[PubMed - indexed for MEDLINE]

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