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Items: 1 to 20 of 143

1.

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
2.

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Aug 13;6:12. doi: 10.1186/1479-7364-6-12.

3.

A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.

Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, Thakker N, Evans DG.

J Med Genet. 2011 Apr;48(4):256-60. doi: 10.1136/jmg.2010.081760. Epub 2011 Jan 28.

PMID:
21278392
4.

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

Nemethova M, Bolcekova A, Ilencikova D, Durovcikova D, Hlinkova K, Hlavata A, Kovacs L, Kadasi L, Zatkova A.

Ann Hum Genet. 2013 Sep;77(5):364-79. doi: 10.1111/ahg.12026. Epub 2013 Jun 12.

5.

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E.

JAMA. 2009 Nov 18;302(19):2111-8. doi: 10.1001/jama.2009.1663. Erratum in: JAMA. 2010 Jun 23;303(24):2477.

PMID:
19920235
6.

[Neurofibromatosis type 1 and associated clinical abnormalities in 27 children].

Syrbe S, Eberle K, Strenge S, Bernhard MK, Herbertz S, Bierbach U, Hirsch W, Froster UG, Kiess W, Merkenschlager A.

Klin Padiatr. 2007 Nov-Dec;219(6):326-32. German.

PMID:
18183640
7.

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.

8.

Ophthalmological manifestations in segmental neurofibromatosis type 1.

Ruggieri M, Pavone P, Polizzi A, Di Pietro M, Scuderi A, Gabriele A, Spalice A, Iannetti P.

Br J Ophthalmol. 2004 Nov;88(11):1429-33.

9.

A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.

Kebudi R, Tuncer S, Upadhyaya M, Peksayar G, Spurlock G, Yazici H.

Pediatr Blood Cancer. 2008 Mar;50(3):713-5.

PMID:
17514731
10.

Optic pathway gliomas in patients with neurofibromatosis type 1: follow-up of 44 patients.

Segal L, Darvish-Zargar M, Dilenge ME, Ortenberg J, Polomeno RC.

J AAPOS. 2010 Apr;14(2):155-8. doi: 10.1016/j.jaapos.2009.11.020.

PMID:
20451859
11.

Spatiotemporal differences in CXCL12 expression and cyclic AMP underlie the unique pattern of optic glioma growth in neurofibromatosis type 1.

Warrington NM, Woerner BM, Daginakatte GC, Dasgupta B, Perry A, Gutmann DH, Rubin JB.

Cancer Res. 2007 Sep 15;67(18):8588-95.

12.

Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations.

Listernick R, Ferner RE, Liu GT, Gutmann DH.

Ann Neurol. 2007 Mar;61(3):189-98. Review.

PMID:
17387725
13.

BRAF duplications and MAPK pathway activation are frequent in gliomas of the optic nerve proper.

Rodriguez FJ, Ligon AH, Horkayne-Szakaly I, Rushing EJ, Ligon KL, Vena N, Garcia DI, Cameron JD, Eberhart CG.

J Neuropathol Exp Neurol. 2012 Sep;71(9):789-94. doi: 10.1097/NEN.0b013e3182656ef8.

14.

Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome.

King A, Listernick R, Charrow J, Piersall L, Gutmann DH.

Am J Med Genet A. 2003 Oct 1;122A(2):95-9.

PMID:
12955759
15.

Optic nerve glioma in mice requires astrocyte Nf1 gene inactivation and Nf1 brain heterozygosity.

Bajenaru ML, Hernandez MR, Perry A, Zhu Y, Parada LF, Garbow JR, Gutmann DH.

Cancer Res. 2003 Dec 15;63(24):8573-7.

16.

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.

17.

Neurological complications involving the central nervous system in neurofibromatosis type 1.

Hsieh HY, Wu T, Wang CJ, Chin SC, Chen YR.

Acta Neurol Taiwan. 2007 Jun;16(2):68-73.

PMID:
17685129
18.

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

Gabriele AL, Ruggieri M, Patitucci A, Magariello A, Conforti FL, Mazzei R, Muglia M, Ungaro C, Di Palma G, Citrigno L, Sproviero W, Gambardella A, Quattrone A.

Childs Nerv Syst. 2011 Apr;27(4):635-8. doi: 10.1007/s00381-010-1282-z. Epub 2010 Oct 7.

PMID:
20927530
19.

Visual acuity of children treated with chemotherapy for optic pathway gliomas.

Kalin-Hajdu E, Décarie JC, Marzouki M, Carret AS, Ospina LH.

Pediatr Blood Cancer. 2014 Feb;61(2):223-7. doi: 10.1002/pbc.24726. Epub 2013 Aug 19.

PMID:
23956233
20.

[Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome].

Wimmer K.

Wien Med Wochenschr. 2005 Jun;155(11-12):273-80. German.

PMID:
16035388
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