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Results: 1 to 20 of 41

Select item 232444951.

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.

PMID:: 23244495; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 231580142.

An emerging role for microRNAs in NF1 tumorigenesis.

Sedani A, Cooper DN, Upadhyaya M.

Hum Genomics. 2012 Nov 17;6:23. doi: 10.1186/1479-7364-6-23. Review.

PMID:: 23158014; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 231359153.

Epigenetic regulation by Z-DNA silencer function controls cancer-associated ADAM-12 expression in breast cancer: cross-talk between MeCP2 and NF1 transcription factor family.

Ray BK, Dhar S, Henry C, Rich A, Ray A.

Cancer Res. 2013 Jan 15;73(2):736-44. doi: 10.1158/0008-5472.CAN-12-2601. Epub 2012 Nov 7.

PMID:: 23135915; [PubMed - indexed for MEDLINE]

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Select item 231015004.

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.

PMID:: 23101500; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 230776635.

Integration of SNP and mRNA arrays with microRNA profiling reveals that MiR-370 is upregulated and targets NF1 in acute myeloid leukemia.

García-Ortí L, Cristóbal I, Cirauqui C, Guruceaga E, Marcotegui N, Calasanz MJ, Castello-Cros R, Odero MD.

PLoS One. 2012;7(10):e47717. doi: 10.1371/journal.pone.0047717. Epub 2012 Oct 15.

PMID:: 23077663; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 230104736.

Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas.

Welander J, Larsson C, Bäckdahl M, Hareni N, Sivlér T, Brauckhoff M, Söderkvist P, Gimm O.

Hum Mol Genet. 2012 Dec 15;21(26):5406-16. doi: 10.1093/hmg/dds402. Epub 2012 Sep 24.

PMID:: 23010473; [PubMed - indexed for MEDLINE]

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Select item 230010217.

Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum.

Pascual-Castroviejo I, Pascual-Pascual SI.

Childs Nerv Syst. 2012 Dec;28(12):2177-80. doi: 10.1007/s00381-012-1903-9. Epub 2012 Sep 22.

PMID:: 23001021; [PubMed - indexed for MEDLINE]

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Select item 229657738.

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

Yimenicioğlu S, Yakut A, Karaer K, Zenker M, Ekici A, Carman KB.

Childs Nerv Syst. 2012 Dec;28(12):2181-3. doi: 10.1007/s00381-012-1905-7. Epub 2012 Sep 11.

PMID:: 22965773; [PubMed - indexed for MEDLINE]

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Select item 229623019.

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

Burnichon N, Buffet A, Parfait B, Letouzé E, Laurendeau I, Loriot C, Pasmant E, Abermil N, Valeyrie-Allanore L, Bertherat J, Amar L, Vidaud D, Favier J, Gimenez-Roqueplo AP.

Hum Mol Genet. 2012 Dec 15;21(26):5397-405. doi: 10.1093/hmg/dds374. Epub 2012 Sep 6.

PMID:: 22962301; [PubMed - indexed for MEDLINE]

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Select item 2294562810.

Loss of tumor suppressor NF1 activates HSF1 to promote carcinogenesis.

Dai C, Santagata S, Tang Z, Shi J, Cao J, Kwon H, Bronson RT, Whitesell L, Lindquist S.

J Clin Invest. 2012 Oct 1;122(10):3742-54. doi: 10.1172/JCI62727. Epub 2012 Sep 4.

PMID:: 22945628; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2286907111.

A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.

Tong HX, Li M, Zhang Y, Zhu J, Lu WQ.

Genet Mol Res. 2012 Aug 29;11(3):2972-8.

PMID:: 22869071; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2285164612.

Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver.

Wallace MD, Pfefferle AD, Shen L, McNairn AJ, Cerami EG, Fallon BL, Rinaldi VD, Southard TL, Perou CM, Schimenti JC.

Genetics. 2012 Oct;192(2):385-96. doi: 10.1534/genetics.112.142802. Epub 2012 Jul 30.

PMID:: 22851646; [PubMed - indexed for MEDLINE]

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Select item 2283707913.

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, Fu C, van den Ende J, Mautner VF, Cooper DN, Messiaen L, Kehrer-Sawatzki H.

Hum Mutat. 2012 Nov;33(11):1599-609. doi: 10.1002/humu.22171. Epub 2012 Aug 20.

PMID:: 22837079; [PubMed - indexed for MEDLINE]

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Select item 2280713414.

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

Thomas L, Richards M, Mort M, Dunlop E, Cooper DN, Upadhyaya M.

Hum Mutat. 2012 Dec;33(12):1687-96. doi: 10.1002/humu.22162. Epub 2012 Aug 6.

PMID:: 22807134; [PubMed - indexed for MEDLINE]

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Select item 2270087615.

PTEN and NF1 inactivation in Schwann cells produces a severe phenotype in the peripheral nervous system that promotes the development and malignant progression of peripheral nerve sheath tumors.

Keng VW, Rahrmann EP, Watson AL, Tschida BR, Moertel CL, Jessen WJ, Rizvi TA, Collins MH, Ratner N, Largaespada DA.

Cancer Res. 2012 Jul 1;72(13):3405-13. doi: 10.1158/0008-5472.CAN-11-4092. Epub 2012 Jun 14.

PMID:: 22700876; [PubMed - indexed for MEDLINE]

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Select item 2267869216.

Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation.

Kantaputra PN, van den Ouweland A, Sangruchi T, Limwongse C.

Am J Med Genet A. 2012 Jul;158A(7):1750-3. doi: 10.1002/ajmg.a.35422. Epub 2012 Jun 7.

PMID:: 22678692; [PubMed - indexed for MEDLINE]

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Select item 2258573817.

Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma.

Beert E, Brems H, Renard M, Ferreiro JF, Melotte C, Thoelen R, De Wever I, Sciot R, Legius E, Debiec-Rychter M.

Genes Chromosomes Cancer. 2012 Sep;51(9):852-7. doi: 10.1002/gcc.21969. Epub 2012 May 14.

PMID:: 22585738; [PubMed - indexed for MEDLINE]

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Select item 2258125318.

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

Kehrer-Sawatzki H, Vogt J, Mußotter T, Kluwe L, Cooper DN, Mautner VF.

Neurogenetics. 2012 Aug;13(3):229-36. doi: 10.1007/s10048-012-0332-y. Epub 2012 May 13.

PMID:: 22581253; [PubMed - indexed for MEDLINE]

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Select item 2248891919.

Is double inactivation of the Nf1 gene responsible for the development of congenital pseudarthrosis of the tibia associated with NF1?

Lee SM, Choi IH, Lee DY, Lee HR, Park MS, Yoo WJ, Chung CY, Cho TJ.

J Orthop Res. 2012 Oct;30(10):1535-40. doi: 10.1002/jor.22121. Epub 2012 Apr 5.

PMID:: 22488919; [PubMed - indexed for MEDLINE]

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Select item 2233169720.

Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis.

Upadhyaya M, Spurlock G, Thomas L, Thomas NS, Richards M, Mautner VF, Cooper DN, Guha A, Yan J.

Hum Mutat. 2012 Apr;33(4):763-76. doi: 10.1002/humu.22044. Epub 2012 Mar 5.

PMID:: 22331697; [PubMed - indexed for MEDLINE]

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11 free full-text articles in PubMed Central

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? [Hum Genomics. 2012]
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. Epub 2012 Aug 13.
Review An emerging role for microRNAs in NF1 tumorigenesis. [Hum Genomics. 2012]
Review An emerging role for microRNAs in NF1 tumorigenesis.
Sedani A, Cooper DN, Upadhyaya M. Hum Genomics. 2012 Nov 17; 6:23. Epub 2012 Nov 17.
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. [BMC Med Genet. 2012]
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. Epub 2012 Oct 26.

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