| 1 | NF1
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| Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
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| Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.
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| Am J Hum Genet 102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.
2018
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| 2 | NF1
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| Nuclear import mechanism of neurofibromin for localization on the spindle and function in chromosome congression.
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| Koliou X, Fedonidis C, Kalpachidou T, Mangoura D.
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| J Neurochem 136(1):78-91. doi: 10.1111/jnc.13401. Epub 2015 Nov 11.
2016
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| 3 | NF1, SPRED1
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| The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation.
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| Dunzendorfer-Matt T, Mercado EL, Maly K, McCormick F, Scheffzek K.
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| Proc Natl Acad Sci U S A 113(27):7497-502. doi: 10.1073/pnas.1607298113. Epub 2016 Jun 16.
2016
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| 4 | NF1, NFLS, SPRED1
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| Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
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| Hirata Y, Brems H, Suzuki M, Kanamori M, Okada M, Morita R, Llano-Rivas I, Ose T, Messiaen L, Legius E, Yoshimura A.
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| J Biol Chem 291(7):3124-34. doi: 10.1074/jbc.M115.703710. Epub 2015 Dec 3.
2016
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| 5 | NF1
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| Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case.
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| Belinsky MG, Rink L, Cai KQ, Capuzzi SJ, Hoang Y, Chien J, Godwin AK, von Mehren M.
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| BMC Cancer 15:887. doi: 10.1186/s12885-015-1872-y.
2015
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| 6 | NF1
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| Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.
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| Hernández-Imaz E, Martín Y, de Conti L, Melean G, Valero A, Baralle M, Hernández-Chico C.
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| PLoS One 10(10):e0141735. doi: 10.1371/journal.pone.0141735. eCollection 2015.
2015
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| 7 | NF1
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| Neurofibromatosis-1 regulation of neural stem cell proliferation and multilineage differentiation operates through distinct RAS effector pathways.
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| Chen YH, Gianino SM, Gutmann DH.
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| Genes Dev 29(16):1677-82. doi: 10.1101/gad.261677.115. Epub 2015 Aug 13.
2015
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| 8 | NF1
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| NF1 Mutations Are Common in Desmoplastic Melanoma.
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| Wiesner T, Kiuru M, Scott SN, Arcila M, Halpern AC, Hollmann T, Berger MF, Busam KJ.
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| Am J Surg Pathol 39(10):1357-62. doi: 10.1097/PAS.0000000000000451.
2015
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| 9 | NF1
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| NF1 loss induces senescence during human melanocyte differentiation in an iPSC-based model.
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| Larribere L, Wu H, Novak D, Galach M, Bernhardt M, Orouji E, Weina K, Knappe N, Sachpekidis C, Umansky L, Beckhove P, Umansky V, De Schepper S, Kaufmann D, Ballotti R, Bertolotto C, Utikal J.
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| Pigment Cell Melanoma Res 28(4):407-16. doi: 10.1111/pcmr.12369. Epub 2015 Apr 22.
2015
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| 10 | NF1
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| FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.
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| Karolak MR, Yang X, Elefteriou F.
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| Hum Mol Genet 24(9):2552-64. doi: 10.1093/hmg/ddv019. Epub 2015 Jan 23.
2015
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| 11 | NF1
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| The C-terminal domains of human neurofibromin and its budding yeast homologs Ira1 and Ira2 regulate the metaphase to anaphase transition.
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| Luo G, Kim J, Song K.
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| Cell Cycle 13(17):2780-9. doi: 10.4161/15384101.2015.945870.
2014
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| 12 | NF1
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| NF1 regulation of RAS/ERK signaling is required for appropriate granule neuron progenitor expansion and migration in cerebellar development.
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| Sanchez-Ortiz E, Cho W, Nazarenko I, Mo W, Chen J, Parada LF.
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| Genes Dev 28(21):2407-20. doi: 10.1101/gad.246603.114.
2014
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| 13 | NF1
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| Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models.
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| Kühnisch J, Seto J, Lange C, Stumpp S, Kobus K, Grohmann J, Elefteriou F, Fratzl P, Mundlos S, Kolanczyk M.
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| Bone 66:155-62. doi: 10.1016/j.bone.2014.06.012. Epub 2014 Jun 17.
2014
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| 14 | NF1
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| Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.
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| Paria N, Cho TJ, Choi IH, Kamiya N, Kayembe K, Mao R, Margraf RL, Obermosser G, Oxendine I, Sant DW, Song MH, Stevenson DA, Viskochil DH, Wise CA, Kim HK, Rios JJ.
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| J Bone Miner Res 29(12):2636-42. doi: 10.1002/jbmr.2298.
2014
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| 15 | NF1
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| Neurofibromatosis type 1 alternative splicing is a key regulator of Ras signaling in neurons.
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| Hinman MN, Sharma A, Luo G, Lou H.
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| Mol Cell Biol 34(12):2188-97. doi: 10.1128/MCB.00019-14. Epub 2014 Apr 7. Erratum in: Mol Cell Biol. 2014 Aug;34(15):2944.
2014
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| 16 | NF1
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| Neurofibromin is the major ras inactivator in dendritic spines.
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| Oliveira AF, Yasuda R.
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| J Neurosci 34(3):776-83. doi: 10.1523/JNEUROSCI.3096-13.2014.
2014
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| 17 | NF1
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| NF1 is a critical regulator of muscle development and metabolism.
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| Sullivan K, El-Hoss J, Quinlan KG, Deo N, Garton F, Seto JT, Gdalevitch M, Turner N, Cooney GJ, Kolanczyk M, North KN, Little DG, Schindeler A.
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| Hum Mol Genet 23(5):1250-9. doi: 10.1093/hmg/ddt515. Epub 2013 Oct 24.
2014
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| 18 | AKR1C2, MTDH, NF1
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| AEG-1 Promotes Metastasis Through Downstream AKR1C2 and NF1 in Liver Cancer.
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| Li C, Wu X, Zhang W, Li J, Liu H, Hao M, Wang J, Zhang H, Yang G, Hao M, Sheng S, Sun Y, Long J, Hu X, Zhang H, Hu C, Li L, Zheng J.
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| Oncol Res 22(4):203-11. doi: 10.3727/096504015X14386062091352.
2014
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| 19 | DYNC1H1, NF1
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| Neurofibromin interacts with the cytoplasmic Dynein Heavy Chain 1 in melanosomes of human melanocytes.
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| Arun V, Worrell L, Wiley JC, Kaplan DR, Guha A.
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| FEBS Lett 587(10):1466-73. doi: 10.1016/j.febslet.2013.03.035. Epub 2013 Apr 10.
2013
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| 20 | NF1
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| The ras-GTPase activity of neurofibromin restrains ERK-dependent FGFR signaling during endochondral bone formation.
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| Ono K, Karolak MR, Ndong Jde L, Wang W, Yang X, Elefteriou F.
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| Hum Mol Genet 22(15):3048-62. doi: 10.1093/hmg/ddt162. Epub 2013 Apr 9.
2013
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| 21 | NF1, VEGFA
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| NF1 gene silencing induces upregulation of vascular endothelial growth factor expression in both Schwann and non-Schwann cells.
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| Kawachi Y, Maruyama H, Ishitsuka Y, Fujisawa Y, Furuta J, Nakamura Y, Ichikawa E, Furumura M, Otsuka F.
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| Exp Dermatol 22(4):262-5. doi: 10.1111/exd.12115.
2013
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| 22 | NF1
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| NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.
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| Park HJ, Lee SJ, Sohn YB, Jin HS, Han JH, Kim YB, Yim H, Jeong SY.
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| Int J Oncol 42(2):657-66. doi: 10.3892/ijo.2012.1751. Epub 2012 Dec 24.
2013
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| 23 | BRAF, NF1
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| Elucidating distinct roles for NF1 in melanomagenesis.
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| Maertens O, Johnson B, Hollstein P, Frederick DT, Cooper ZA, Messiaen L, Bronson RT, McMahon M, Granter S, Flaherty K, Wargo JA, Marais R, Cichowski K.
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| Cancer Discov 3(3):338-49. doi: 10.1158/2159-8290.CD-12-0313. Epub 2012 Nov 21.
2013
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| 24 | NF1, NF1DUP
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| NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.
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| Moles KJ, Gowans GC, Gedela S, Beversdorf D, Yu A, Seaver LH, Schultz RA, Rosenfeld JA, Torchia BS, Shaffer LG.
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| Genet Med enet Med. 2012 Jan 12. doi: 10.1038/gim.2011.46. [Epub ahead of print]
2012
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| 25 | NF1
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| Neurofibromatosis-1 heterozygosity impairs CNS neuronal morphology in a cAMP/PKA/ROCK-dependent manner.
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| Brown JA, Diggs-Andrews KA, Gianino SM, Gutmann DH.
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| Mol Cell Neurosci 49(1):13-22. Epub 2011 Aug 26.
2012
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| 26 | NF1
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| Hyperactivation of mTOR critically regulates abnormal osteoclastogenesis in neurofibromatosis Type 1.
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| Ma J, Li M, Hock J, Yu X.
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| J Orthop Res 30(1):144-52. doi: 10.1002/jor.21497. Epub 2011 Jul 11.
2012
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| 27 | NF1, NF1DEL
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| Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.
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| Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H.
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| Hum Mutat 33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9.
2012
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| 28 | NF1, NF1DEL
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| Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.
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| 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.
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| Hum Mutat 33(11):1599-609. doi: 10.1002/humu.22171. Epub 2012 Aug 20.
2012
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| 29 | LIMK2, NF1
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| Nf1 RasGAP inhibition of LIMK2 mediates a new cross-talk between Ras and Rho pathways.
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| Vallée B, Doudeau M, Godin F, Gombault A, Tchalikian A, de Tauzia ML, Bénédetti H.
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| PLoS One 7(10):e47283. doi: 10.1371/journal.pone.0047283. Epub 2012 Oct 17.
2012
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| 30 | NF1
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| Nf1 limits epicardial derivative expansion by regulating epithelial to mesenchymal transition and proliferation.
|
| Baek ST, Tallquist MD.
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| Development 139(11):2040-9. doi: 10.1242/dev.074054. Epub 2012 Apr 25.
2012
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| 31 | NF1
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| Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I.
|
| Wang W, Nyman JS, Ono K, Stevenson DA, Yang X, Elefteriou F.
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| Hum Mol Genet 20(20):3910-24. Epub 2011 Jul 14.
2011
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| 32 | NF1
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| Neurofibromin (Nf1) is required for skeletal muscle development.
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| Kossler N, Stricker S, Rödelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kühnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M.
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| Hum Mol Genet 20(14):2697-709. Epub 2011 Apr 9.
2011
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| 33 | NF1
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| A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation.
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| Védrine SM, Vourc'h P, Tabagh R, Mignon L, Höfflin S, Cherpi-Antar C, Mbarek O, Paubel A, Moraine C, Raynaud M, Andres CR.
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| Neurosci Lett 491(2):118-21. Epub 2011 Jan 12.
2011
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| 34 | NF1
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| Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.
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| Welti S, Kühn S, D'Angelo I, Brügger B, Kaufmann D, Scheffzek K.
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| Hum Mutat 32(2):191-7. doi: 10.1002/humu.21405. Epub 2011 Jan 18.
2011
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| 35 | NF1
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| Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner.
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| Banerjee S, Crouse NR, Emnett RJ, Gianino SM, Gutmann DH.
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| Proc Natl Acad Sci U S A 108(38):15996-6001. Epub 2011 Sep 6.
2011
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| 36 | NF1, NF1DEL
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| Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
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| Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H.
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| Hum Mutat 32(2):213-9. doi: 10.1002/humu.21418.
2011
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| 37 | CASK, NF1, SDC2
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| Characterisation of the interaction between syndecan-2, neurofibromin and CASK: dependence of interaction on syndecan dimerization.
|
| Volta M, Calza S, Roberts AM, Roberts RG.
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| Biochem Biophys Res Commun 391(2):1216-21. Epub 2009 Dec 16.PMID: 20006588 2010
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| 38 | NF1, NF1DEL
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| A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.
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| Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H.
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| Hum Mutat 31(6):742-51.
2010
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| 39 | FAF2, NF1
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| The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans.
|
| Phan VT, Ding VW, Li F, Chalkley RJ, Burlingame A, McCormick F.
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| Mol Cell Biol 30(9):2264-79. Epub 2010 Feb 16.PMID: 20160012 2010
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| 40 | NF1, NF1DEL
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| Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.
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| Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Högel J, Spöri H, Cooper DN, Kehrer-Sawatzki H.
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| J Med Genet 47(9):623-30. Epub 2010 Jun 12.PMID: 20543202 2010
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| 41 | DEL17QO, DUP17Q11, NF1, NFDEL
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| A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
|
| Caselli R, Ballarati L, Selicorni A, Milani D, Maitz S, Valtorta C, Larizza L, Giardino D.
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| Eur J Med Genet 53(5):325-8. Epub 2010 Jun 2.PMID: 20621612 2010
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| 42 | NF1, NF1DEL
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| Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.
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| Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H.
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| Hum Mutat 31(10):1163-73.PMID: 20725927 2010
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| 43 | NF1, ZNF423
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| NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome.
|
| Hölzel M, Huang S, Koster J, Ora I, Lakeman A, Caron H, Nijkamp W, Xie J, Callens T, Asgharzadeh S, Seeger RC, Messiaen L, Versteeg R, Bernards R.
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| Cell 142(2):218-29.
2010
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| 44 | NF1
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| Neurofibromin regulates corticostriatal inhibitory networks during working memory performance.
|
| Shilyansky C, Karlsgodt KH, Cummings DM, Sidiropoulou K, Hardt M, James AS, Ehninger D, Bearden CE, Poirazi P, Jentsch JD, Cannon TD, Levine MS, Silva AJ.
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| Proc Natl Acad Sci U S A 107(29):13141-6. Epub 2010 Jul 12.PMID: 20624961 2010
|
| 45 | NF1, NF1DEL
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| An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
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| Praxedes LA, Pereira FM, Mazzeu JF, Costa SS, Bertola DR, Kim CA, Vianna-Morgante AM, Otto PA.
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| Mol Syndromol 1(3):133-135. Epub 2010 Sep 14.PMID: 21031083 2010
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| 46 | NF1
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| Neurofibromatosis-1 regulates neuroglial progenitor proliferation and glial differentiation in a brain region-specific manner.
|
| Lee da Y, Yeh TH, Emnett RJ, White CR, Gutmann DH.
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| Genes Dev 24(20):2317-29. Epub 2010 Sep 28.
2010
|
| 47 | NF1, NFNS, PTPN11
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| Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.
|
| Thiel C, Wilken M, Zenker M, Sticht H, Fahsold R, Gusek-Schneider GC, Rauch A.
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| Am J Med Genet A 149A(6):1263-7.
2009
|
| 48 | NF1
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| Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis.
|
| Hegedus B, Yeh TH, Lee da Y, Emnett RJ, Li J, Gutmann DH.
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| Hum Mol Genet 17(19):2956-66. Epub 2008 Jul 9.
2008
|
| 49 | DUP17Q11, NF1, NF1DUP
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| NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
|
| Grisart B, Rack K, Vidrequin S, Hilbert P, Deltenre P, Verellen-Dumoulin C, DestrŽe A.
|
| Eur J Hum Genet 16(3):305-11. Epub 2008 Jan 9. 2008
|
| 50 | BRAF, CFC2, CFC3, COSTS, HRAS, KRAS, LEOPS, MAP2K1, MAPK1, MTOR, NF1, NFNS, NS1, NS3, NS4, NS5, PTPN11, RAF1, SOS1
|
| Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases.
|
| Krab LC, Goorden SM, Elgersma Y.
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| Trends Genet 24(10):498-510. Epub 2008 Sep 4. 2008
|
| 51 | NF1
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| The pathological splicing mutation c.6792C>G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors.
|
| Skoko N, Baralle M, Buratti E, Baralle FE.
|
| FEBS Lett 582(15):2231-6. Epub 2008 May 27.
2008
|
| 52 | NF1
|
| Neurofibromin regulation of ERK signaling modulates GABA release and learning.
|
| Cui Y, Costa RM, Murphy GG, Elgersma Y, Zhu Y, Gutmann DH, Parada LF, Mody I, Silva AJ.
|
| Cell 135(3):549-60.
2008
|
| 53 | NF1
|
| Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?
|
| Kehrer-Sawatzki H, Cooper DN.
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| J Med Genet 45(10):622-31. Epub 2008 May 29. Review.
2008
|
| 54 | NF1, NF1DEL
|
| Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.
|
| Pasmant E, de Saint-Trivier A, Laurendeau I, Dieux-Coeslier A, Parfait B, Vidaud M, Vidaud D, Bièche I.
|
| Eur J Hum Genet 16(12):1459-66. Epub 2008 Jul 23.
2008
|
| 55 | NF1, SEMA4F
|
| NF1 loss disrupts Schwann cell-axonal interactions: a novel role for semaphorin 4F.
|
| Parrinello S, Noon LA, Harrisingh MC, Digby PW, Rosenberg LH, Cremona CA, Echave P, Flanagan AM, Parada LF, Lloyd AC.
|
| Genes Dev 22(23):3335-48.
2008
|
| 56 | NF1
|
| An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation.
|
| Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L.
|
| Am J Hum Genet 80(1):140-51. Epub 2006 Dec 8. 2007
|
| 57 | NF1
|
| Multiple roles for neurofibromin in skeletal development and growth.
|
| Kolanczyk M, Kossler N, Kuhnisch J, Lavitas L, Stricker S, Wilkening U, Manjubala I, Fratzl P, Sporle R, Herrmann BG, Parada LF, Kornak U, Mundlos S.
|
| Hum Mol Genet 16(8):874-86. Epub 2007 Feb 22. 2007
|
| 58 | NF1
|
| Angiogenic expression profile of normal and neurofibromin-deficient human Schwann cells.
|
| Thomas SL, De Vries GH.
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| Neurochem Res 32(7):1129-41. Epub 2007 Apr 3. 2007
|
| 59 | NF1
|
| Distinct functional domains of neurofibromatosis type 1 regulate immediate versus long-term memory formation.
|
| Ho IS, Hannan F, Guo HF, Hakker I, Zhong Y.
|
| J Neurosci 27(25):6852-7. 2007
|
| 60 | ADAP2, ATAD5, C17orf79, CRLF3, EVI2A, EVI2B, NF1, NF1DEL, OMG, RNF135, SUZ12, TEFM, UTP6
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| Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
|
| Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration, Rahman N.
|
| Nat Genet 39(8):963-5. Epub 2007 Jul 15. 2007
|
| 61 | NF1
|
| Neurofibromin is a novel regulator of RAS-induced signals in primary vascular smooth muscle cells.
|
| Li F, Munchhof AM, White HA, Mead LE, Krier TR, Fenoglio A, Chen S, Wu X, Cai S, Yang FC, Ingram DA.
|
| Hum Mol Genet 15(11):1921-30. Epub 2006 Apr 27. 2006
|
| 62 | NF1
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| Neurofibromin: a general outlook.
|
| Trovo-Marqui AB, Tajara EH.
|
| Clin Genet 70(1):1-13. 2006
|
| 63 | NF1, NFNS
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| A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.
|
| Huffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A.
|
| Am J Med Genet A 140(24):2749-56. 2006
|
| 64 | NF1
|
| Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells.
|
| Wu X, Estwick SA, Chen S, Yu M, Ming W, Nebesio TD, Li Y, Yuan J, Kapur R, Ingram D, Yoder MC, Yang FC.
|
| Hum Mol Genet 15(19):2837-45. Epub 2006 Aug 7. 2006
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| 65 | NF1, NF1DEL
|
| Childhood overgrowth in patients with common NF1 microdeletions.
|
| Spiegel M, Oexle K, Horn D, Windt E, Buske A, Albrecht B, Prott EC, Seemanova E, Seidel J, Rosenbaum T, Jenne D, Kehrer-Sawatzki H, Tinschert S.
|
| Eur J Hum Genet 13(7):883-8. 2005
|
| 66 | NF1, NFNS
|
| NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
|
| De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B.
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| Am J Hum Genet 77(6):1092-101. Epub 2005 Oct 26. 2005
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| 67 | NF1, NF1DEL
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| Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.
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| Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P.
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| J Med Genet 41(1):35-41. No abstract available. 2004
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| 68 | NF1, NF1DEL, SUZ12, JJAZP, LRRC49, RAB11FIP4, UTP6
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| 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.
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| Am J Hum Genet 75(3):410-23. Epub 2004 Jul 15. 2004
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| 69 | NF1
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| Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
|
| Zatkova A, Messiaen L, Vandenbroucke I, Wieser R, Fonatsch C, Krainer AR, Wimmer K.
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| Hum Mutat 24(6):491-501. 2004
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| 70 | NF1
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| Nf1 has an essential role in endothelial cells.
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| Gitler AD, Zhu Y, Ismat FA, Lu MM, Yamauchi Y, Parada LF, Epstein JA.
|
| Nat Genet 33(1):75-9. 2003
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| 71 | SUZ12, NF1, NF1DEL
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| Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations.
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| Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H.
|
| J Med Genet 40(7):520-5. No abstract available. 2003
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| 72 | NF1, RNF135
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| Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.
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| Jenne DE, Tinschert S, Dorschner MO, Hameister H, Stephens K, Kehrer-Sawatzki H.
|
| Genes Chromosomes Cancer 37(2):111-20. 2003
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| 73 | NF1
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| Malignant peripheral nerve sheath tumours in neurofibromatosis 1.
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| Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A.
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| J Med Genet 39(5):311-4. 2002
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| 74 | CDH13, NF1
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| Heterozygosity for the neurofibromatosis 1 (NF1) tumor suppressor results in abnormalities in cell attachment, spreading and motility in astrocytes.
|
| Gutmann DH, Wu YL, Hedrick NM, Zhu Y, Guha A, Parada LF.
|
| Hum Mol Genet 10(26):3009-16. 2001
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| 75 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
|
| Nuclear genetic defects of oxidative phosphorylation.
|
| Shoubridge EA.
|
| Hum Mol Genet 10(20):2277-84. Review. 2001
|
| 76 | GDNF, NF1
|
| GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype.
|
| Bahuau M, Pelet A, Vidaud D, Lamireau T, LeBail B, Munnich A, Vidaud M, Lyonnet S, Lacombe D.
|
| J Med Genet 38(9):638-43. No abstract available. 2001
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| 77 | ATAD5, LRRC37B, NF1, NF1DEL, RNF135
|
| Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.
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| Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H,Kehrer-Sawatzki H.
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| Am J Hum Genet 69(3):516-27. Epub 2001 Jul 20. 2001
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| 78 | NF1
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| Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
| Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X.
|
| Hum Mol Genet 9(2):237-47 2000
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| 79 | NF1DEL, ACCN1, BLMH, NF1, SUPT6H
|
| NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.
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| Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L.
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| Am J Hum Genet 66(1):100-9. 2000
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| 80 | NF1
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| Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.
|
| Ars E, Serra E, de la Luna S, Estivill X, Lazaro C.
|
| Nucleic Acids Res 28(6):1307-12. 2000
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| 81 | NF1
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| Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
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| Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kucukceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nurnberg P.
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| Am J Hum Genet 66(3):790-818. 2000
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| 82 | NF1
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| Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.
|
| Rutkowski JL, Wu K, Gutmann DH, Boyer PJ, Legius E.
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| Hum Mol Genet 9(7):1059-66. 2000
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| 83 | NF1, SLC6A4
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| Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes.
|
| Shen S, Battersby S, Weaver M, Clark E, Stephens K, Harmar AJ.
|
| Eur J Hum Genet 8(1):75-8. 2000
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| 84 | NF1
|
| 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 28(4):425-31. 2000
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| 85 | NF1
|
| Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.
|
| Tinschert S, Naumann I, Stegmann E, Buske A, Kaufmann D, Thiel G, Jenne DE.
|
| Eur J Hum Genet 8(6):455-9. 2000
|
| 86 | NF1
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| Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
|
| Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD.
|
| Hum Mutat 15(6):541-55. 2000
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| 87 | NF1
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| New function for NF1 tumor suppressor.
|
| Koivunen J, Yla-Outinen H, Korkiamaki T, Karvonen SL, Poyhonen M, Laato M, Karvonen J, Peltonen S, Peltonen J.
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| J Invest Dermatol 114(3):473-9. 2000
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| 88 | NF1
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| Molecular analysis of the 5'-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants.
|
| Osborn M, Cooper DN, Upadhyaya M.
|
| Clin Genet 57(3):221-4. 2000
|
| 89 | NF1
|
| Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma.
|
| Lau N, Feldkamp MM, Roncari L, Loehr AH, Shannon P, Gutmann DH, Guha A.
|
| J Neuropathol Exp Neurol 59(9):759-67. 2000
|
| 90 | ADAP2, C17orf79, CRLF3, EVI2A, EVI2B, NF1, NF1DEL, OMG, TEFM, UTP6
|
| A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.
|
| Jenne DE, Tinschert S, Stegmann E, Reimann H, Nurnberg P, Horn D, Naumann I, Buske A, Thiel G.
|
| Genomics 66(1):93-7. 2000
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| 91 | NF1
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| Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions.
|
| Correa CL, et al.
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| Hum Mutat 14(5):387-393 1999
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| 92 | NF1, NF1DEL
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| Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.
|
| Streubel B, Latta E, Kehrer-Sawatzki H, Hoffmann GF, Fonatsch C, Rehder H.
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| Am J Med Genet 87(1):12-6 1999
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| 93 | NF1, NFNS
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| Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.
|
| Bahuau M, Houdayer C, Assouline B, Blanchet-Bardon C, Le Merrer M, Lyonnet S, Giraud S, Recan D, Lakhdar H, Vidaud M, Vidaud D.
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| Am J Med Genet 75(3):265-72. 1998
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| 94 | NF1
|
| Two novel mutations in exons 19a and 20 and a Bsal polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.
|
| Klose A, et al.
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| Hum Genet 102 : 367-371. 1998
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| 95 | NF1, NF1DEL
|
| Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.
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| Rasmussen SA, et al.
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| J Med Genet 35 : 468-471. 1998
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| 96 | NF1
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| Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1).
|
| Klose A, et al.
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| Hum Mol Genet 7 : 1261-1268. 1998
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| 97 | NF1
|
| Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1.
|
| Side LE, et al.
|
| Blood 92 : 267-272. 1998
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| 98 | NF1
|
| Structural analysis of the GAP-related domain from neurofibromin and its implications.
|
| Scheffzek K, et al.
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| EMBO J 17 : 4313-4327. 1998
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| 99 | APC, BRCA1, DPP4, MLH1, MSH2, MSH6, NF1, PMS2, RB1, TP53, VHL, WT1, FAP
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| Tumour suppressor gene mutations in humans and mice : parallels and contrasts.
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| Hooper ML.
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| EMBO J 17(23):6783-9. 1998
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| 100 | DCT, NF1
|
| Role of neurofibromin in modulation of expression of the tyrosinase-related protein 2 gene.
|
| Suzuki H, Takahashi K, Yasumoto K, Amae S, Yoshizawa M, Fuse N, Shibahara S.
|
| J Biochem 124 : 992-998. 1998
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| 101 | NF1, NFFS
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| A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
|
| Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lazaro C, Estivill X.
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| Am J Hum Genet 62(4):834-41. 1998
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| 102 | NF1
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| Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
|
| Upadhyaya M, et al.
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| Hum Genet 99 : 88-92. 1997
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| 103 | NF1
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| The second case of a t(17;22) in a family with neurofibromatosis type 1 : sequence analysis of the breakpoint regions.
|
| Kehrer-Sawatzki H, et al.
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| Hum Genet 99 : 237-247. 1997
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| 104 | NF1, NF1DEL
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| Somatic mosaicism for deletion of the entire NF1 gene identified by FISH.
|
| Wu BL, et al.
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| Hum Genet 99 : 209-213. 1997
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| 105 | NF1, NF1L1, NF1L2, NF1L4, NF1L5, NF1L6, NF1L8, NF1L9, NF1P1
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| Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition.
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| RŽgnier V, et al.
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| Hum Mol Genet 6 : 9-16. 1997
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| 106 | NF1
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| A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors.
|
| Cappione AJ, et al.
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| Am J Hum Genet 60 : 305-312. 1997
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| 107 | NF1
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| New evidence for a mutation hotspot in exon 37 of the NF1 gene.
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| Bšddrich A, et al.
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| Hum Mutat 9 : 374-377. 1997
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| 108 | NF1
|
| Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
|
| Hudson J, et al.
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| Hum Mutat 9 : 366-367. 1997
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| 109 | NF1
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| Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
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| Maynard J, Krawczak M, Upadhyaya M.
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| Hum Genet 99(5):674-6. 1997
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| 110 | NF1
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| Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.
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| Ainsworth PJ, et al.
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| Hum Mutat 9 : 452-457. 1997
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| 111 | NF1
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| Deletions spanning the neurofibromatosis type 1 gene : implications for genotype-phenotype correlations in neurofibromatosis type 1?
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| Cnossen MH, et al.
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| Hum Mutat 9 : 458-464. 1997
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| 112 | NF1, TSG17C
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| Homozygous inactivation of the NF1 gene is bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.
|
| Side L, Taylor B, Cayouette M, Conner E, Thompson P, Luce M, Shannon K.
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| N Engl J Med 336(24):1713-20. 1997
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| 113 | NF1
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| Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.
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| Colman SD, Abernathy CR, Ho VT, Wallace MR.
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| J Med Genet 34(7):579-81. 1997
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| 114 | NF1
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| Evidence for the presence of the second allele of the neurofibromatosis type 1 gene in melanocytes derived from CafŽ au Lait macules of NF1 patients.
|
| Eisenbarth I, Assum G, Kaufmann D, Krone W.
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| Biochem Biophys Res Commun 237(1):138-41. 1997
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| 115 | NF1
|
| Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.
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| Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, Estivill X, Lazaro C.
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| Am J Hum Genet 61(3):512-9. 1997
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| 116 | NF1
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| Molecular genetics of neurofibromatosis type 1 (NF1).
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| Shen MH, et al.
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| J Med Genet 33 : 2-17. 1996
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| 117 | NF1, NF1DEL
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| A cytogenetic deletion, del(17) (q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
|
| Upadhyaya M, et al.
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| J Med Genet 33 : 148-152. 1996
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| 118 | NF1, CSF2
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| Nf1 deficiency causes Ras-mediated granulocyte/macrophage colony stimulating factor hypersensitivity and chronic myeloid leukaemia.
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| Largaespada DA, et al.
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| Nat Genet 12 : 137-143. 1996
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| 119 | NF1
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| Somatic mosaicism in a patient with neurofibromatosis type 1.
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| Colman SD, et al.
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| Am J Hum Genet 58 : 484-490. 1996
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| 120 | NF1
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| Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP : identification of three novel mutations and of two new polymorphisms.
|
| Gasparini P, et al.
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| Hum Genet 97 : 492-495. 1996
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| 121 | NF1
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| Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.
|
| Perrin G, et al.
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| Hum Mutat 7 : 172-175. 1996
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| 122 | NF1
|
| Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T : the site of the recurrent substitution mutation in exon 31.
|
| Andrews JD, et al.
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| Hum Mol Genet 5 : 503-507. 1996
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| 123 | NF1, NF1DEL
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| The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization.
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| Leppig KA, et al.
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| Cytogenet Cell Genet 72 : 95-98. 1996
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| 124 | NF1
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| Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome.
|
| Wu R, et al.
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| Hum Mutat 8 : 51-56. 1996
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| 125 | NF1
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| Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis.
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| Robinson PN, et al.
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| Hum Mutat 7 : 85-88. 1996
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| 126 | NF1
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| Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.
|
| Purandare SM, et al.
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| Am J Hum Genet 59 : 159-166. 1996
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| 127 | NF1
|
| Identification of NF1 mutations in both alleles of a dermal neurofibroma.
|
| Sawada S, et al.
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| Nat Genet 14 : 110-112. 1996
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| 128 | NF1, NF1DEL
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| Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndrome.
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| Riva P, et al.
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| Hum Genet 98 : 646-650. 1996
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| 129 | NFNS, NF1
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| Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.
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| Bahuau M, et al.
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| Am J Med Genet 66 : 347-355. 1996
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| 130 | NF1, NFNS
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| Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis.
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| Colley A, Donnai D, Evans DG.
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| Clin Genet 49(2):59-64. 1996
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| 131 | NF1
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| Genomic organization of the neurofibromatosis 1 gene (NF1).
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| Li Y, et al.
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| Genomics 25 : 9-18. 1995
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| 132 | NF1, TSG17C
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| Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.
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| Colman SD, et al.
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| Nat Genet 11 : 90-92. 1995
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| 133 | NF1
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| Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.
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| Lazaro C, et al.
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| Am J Hum Genet 57 : 1044-1049. 1995
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| 134 | NF1
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| The two types of mRNAs for neurofibromin isoforms produced by von Recklinghausen neurofibromatosis (NF1) gene : analysis in human astrocytic tumors.
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| Tokuyama T, et al.
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| Neurosci Lett 196 : 189-192. 1995
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| 135 | NF1
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| Deletion of the entire NF1 gene detected by FISH : four deletion patients associated with severe manifestations.
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| Wu BL, et al.
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| Am J Med Genet 59 : 528-535. 1995
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| 136 | NF1
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| Familial cafŽ au lait spots : a variant of neurofibromatosis type 1.
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| Abeliovich D, et al.
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| J Med Genet 32 : 985-986. 1995
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| 137 | NF1
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| Characterisation of a novel splice donor mutation affecting position + 1 in intron 18 of the NF-1 gene.
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| Purandare SM, et al.
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| Hum Mol Genet 4 : 767-768. 1995
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| 138 | NF1
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| Neurofibromatosis 1 (NF1) mRNAs expressed in the central nervous system are differentially spliced in the 5' part of the gene.
|
| Danglot G, et al.
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| Hum Mol Genet 4 : 915-920. 1995
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| 139 | NF1
|
| Distribution of 13 truncating mutations in the neurofibromatosis 1 gene.
|
| Heim RA, et al.
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| Hum Mol Genet 4 : 975-981. 1995
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| 140 | NF1
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| A Tsp5091 variant in exon 13 of the neurofibromatosis type 1 (NF1) gene allows the identification of both alleles at the mRNA level.
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| RŽgnier V, et al.
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| Hum Genet 96 : 131-132. 1995
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| 141 | NF1
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| Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.
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| Robinson PN, et al.
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| Hum Genet 96 : 95-98. 1995
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| 142 | NF1
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| On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1.
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| Hoffmeyer S, et al.
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| Hum Mol Genet 4 : 1267-1272. 1995
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| 143 | NS1, NF1
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| Noonan syndrome with CafŽ-au-Lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus.
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| Ahlbom BE, et al.
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| Clin Genet 48 : 85-89. 1995
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| 144 | NF1
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| A novel Rsal polymorphism within intron 39 of the neurofibromatosis type 1 (NF1) gene.
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| Rodenhiser D, et al.
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| Hum Genet 95 : 241-242. 1995
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| 145 | NF1
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| Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese.
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| Horiuchi T, et al.
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| Hum Genet 93 : 81-83. 1994
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| 146 | NF1
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| A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene.
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| Purandare SM, et al.
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| Hum Mutat 3 : 76-78. 1994
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| 147 | NF1
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| Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene.
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| Lazaro C, et al.
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| Hum Genet 93 : 351-352. 1994
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| 148 | NF1
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| An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene.
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| Bleyl S, et al.
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| Hum Mol Genet 3 : 517-518. 1994
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| 149 | NF1, TSG17C
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| Loss of the normal NF1 allele from the bone marrow of children with type1 neurofibromatosis and malignant myeloid disorders.
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| Shannon KM, et al.
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| N Engl J Med 330 : 597-601. 1994
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| 150 | NF1
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| Deletions spanning the neurofibromatosis I gene : identification and phenotype of five patients.
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| Kayes LM, et al.
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| Am J Hum Genet 54 : 424-436. 1994
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| 151 | NF1
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| Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I.
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| Gutmann DH, et al.
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| Genes Chromosomes Cancer 10 : 55-58. 1994
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| 152 | NF1
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| Exon skipping associated with A-G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene.
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| Hutter P, et al.
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| Hum Mol Genet 3 : 663-665. 1994
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| 153 | NF1
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| An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene.
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| Hoffmeyer S, et al.
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| Hum Genet 93 : 481-482. 1994
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| 154 | NF1
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| Ten base pair duplication in exon 38 of the NF1 gene.
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| Legius E, et al.
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| Hum Mol Genet 3 : 829-830. 1994
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| 155 | NF1
|
| Two NF1 mutations : frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.
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| Abernathy CR, et al.
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| Hum Mutat 3 : 347-352. 1994
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| 156 | NF1
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| A deletion in the 5'-region of the neurofibromatosis type 1 (NF1) gene.
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| Hoffmeyer S, et al.
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| Hum Genet 94 : 97-100. 1994
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| 157 | NF1
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| Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene.
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| Ainsworth P, et al.
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| Hum Mol Genet 3 : 1179-1181. 1994
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| 158 | NF1
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| Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
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| Purandare SM, et al.
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| Hum Mol Genet 3 : 1109-1115. 1994
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| 159 | NF1
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| Molecular basis of neurofibromatosis type 1 (NF1) : mutation analysis and polymorphisms in the NF1 gene.
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| Upadhyaya M, et al.
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| Hum Mutat 4 : 83-101. 1994
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| 160 | NF1
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| Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.
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| Ainsworth PJ, et al.
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| Hum Genet 91 : 151-156. 1993
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| 161 | NF1
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| Linkage disequilibrium in the neurofibromatosis I (NFI) region : implications for gene mapping.
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| Jorde LB, et al.
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| Am J Hum Genet 53 : 1038-1050. 1993
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| 162 | NF1
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| An EcoRI RFLP in the 5' region of the human NF1 gene.
|
| Reyniers E, et al.
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| Hum Genet 92 : 631. 1993
|
| 163 | NF1
|
| Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.
|
| Rodenhiser DI, et al.
|
| Hum Mol Genet 2 : 439-444. 1993
|
| 164 | NF1
|
| Lack of independence between five DNA polymorphisms in the NF1 gene.
|
| Messiaen L, et al.
|
| Hum Mol Genet 2 : 485. 1993
|
| 165 | NF1
|
| Detection of a neurofibromatosis type 1 (NF1) homologous sequence by PCR : implications for the diagnosis and screening of genetic diseases.
|
| Gasparini P, et al.
|
| Mol Cell Probes 7 : 415-418. 1993
|
| 166 | NF1
|
| Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.
|
| Lazaro C, et al.
|
| Hum Mol Genet 2 : 725-730. 1993
|
| 167 | NF1
|
| An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle.
|
| Gutman DH, et al.
|
| Hum Mol Genet 2 : 989-992. 1993
|
| 168 | NF1
|
| A new disease-causing mutation in the GAP-related domain of the NF1 gene.
|
| Anglani F, et al.
|
| Hum Mol Genet 2 : 1057-1059. 1993
|
| 169 | NF1
|
| A coumpond nucleotide repeat in the neurofibromatosis (NF1) gene.
|
| Andersen LB, et al.
|
| Hum Mol Genet 2 : 1083. 1993
|
| 170 | NF1, TSG17C
|
| Involvement of 22q12 in a neurofibrosarcoma in neurofibromatosis type 1.
|
| Rey JA, et al.
|
| Cancer Genet Cytogenet 66 : 28-32. 1993
|
| 171 | NF1
|
| A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces 2 neurofibromin isoforms, both of which have GTPase-activating protein activity.
|
| Andersen LB, et al.
|
| Mol Cell Biol 13 : 487-492. 1993
|
| 172 | NF1
|
| Two novel mutations : 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis.
|
| Zhong J, et al.
|
| Hum Mol Genet 2 : 1491-1492. 1993
|
| 173 | NF1
|
| Characterization of a single base-pair deletion in neurofibromatosis type 1.
|
| Colman SD, et al.
|
| Hum Mol Genet 2 : 1709-1711. 1993
|
| 174 | NF1
|
| Watson syndrome associated with a deletion at the NF1 locus.
|
| Costa T, et al.
|
| Am J Hum Genet 53 : 419. 1993
|
| 175 | NF1
|
| A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.
|
| Shen MH, et al.
|
| Hum Genet 92 : 410-412. 1993
|
| 176 | NF1
|
| A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene.
|
| Lazaro C, et al.
|
| Hum Genet 92 : 429-430. 1993
|
| 177 | NF1
|
| Autosomal dominant multiple cafŽ-au-lait spots and neurofibromatosis-1 : evidence of non-linkage.
|
| Charrow J, et al.
|
| Am J Med Genet 45 : 606-608. 1993
|
| 178 | NFNS, NF1, WATS
|
| Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.
|
| Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N.
|
| Am J Hum Genet 53(1):90-5. 1993
|
| 179 | NF1
|
| Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1.
|
| Kylstra JA, Aylsworth AS.
|
| Can J Ophthalmol 28(2):79-80. No abstract available. 1993
|
| 180 | NF1
|
| Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.
|
| Stephens K, et al.
|
| Hum Genet 88 : 279-282. 1992
|
| 181 | NF1
|
| Somatic mutations in the neurofibromatosis 1 gene in human tumors.
|
| Li Y, et al.
|
| Cell 69 : 275-281. 1992
|
| 182 | NF1
|
| DNA deletion in patients with von Recklinghausen neurofibromatosis.
|
| Kamei T, et al.
|
| Clin Genet 42 : 53-54. 1992
|
| 183 | NF1
|
| Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.
|
| Kayes LM, et al.
|
| J Med Genet 29 : 686-690. 1992
|
| 184 | NF1
|
| Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein.
|
| Suzuki H, et al.
|
| Biochem Biophys Res Commun 187 : 984-990. 1992
|
| 185 | NF1
|
| The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain.
|
| Teinturier C, et al.
|
| Biochem Biophys Res Commun 188 : 851-857. 1992
|
| 186 | NF1
|
| Expression of two types of neurofibromatosis type 1 gene transcripts in gastric cancers and comparison of GAP activities.
|
| Uchida T, et al.
|
| Biochem Biophys Res Commun 187 : 332-339. 1992
|
| 187 | NF1, NF1L6
|
| A yeast artificial chromosome contig encompassing the type 1 neurofibromatosis gene.
|
| Marchuk DA, et al.
|
| Genomics 13 : 672-680. 1992
|
| 188 | NF1
|
| Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17.
|
| Clementi M, et al.
|
| Hum Genet 87 : 91-94. 1991
|
| 189 | NF1
|
| The gene for von Recklinghausen neurofibromatosis (NF1) maps to the pericentromeric region of chromosome 17 in Chinese families.
|
| Xu W, et al.
|
| Genomics 10 : 1090-1092. 1991
|
| 190 | NF1
|
| A highly polymorphic cDNA probe in the NF1 gene.
|
| Andersen LB, et al.
|
| Nucleic Acids Res 19 : 3754. 1991
|
| 191 | NF1
|
| An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).
|
| Xu G, et al.
|
| Nucleic Acids Res 19 : 3764. 1991
|
| 192 | NF1
|
| A BgIII polymorphism in the human NF1 gene.
|
| Xu W, et al.
|
| Nucleic Acids Res 19 : 4798. 1991
|
| 193 | NF1
|
| A Taql polymorphism in the human NF1 gene.
|
| Xu W, et al.
|
| Nucleic Acids Res 19 : 4570. 1991
|
| 194 | NF1
|
| Identification of the neurofibromatosis type 1 gene product.
|
| Gutmann DH, et al.
|
| Proc Natl Acad Sci U S A 88 : 9658-9662. 1991
|
| 195 | NF1
|
| A de novo Alu insertion results in neurofibromatosis type 1.
|
| Wallace MR, et al.
|
| Nature 353 : 864-866. 1991
|
| 196 | NF1
|
| BclI RFLP at the NF1 gene locus.
|
| Kitayama K, et al.
|
| Nucleic Acids Res 19 : 5801. 1991
|
| 197 | NF1
|
| cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.
|
| Marchuk DA, et al.
|
| Genomics 11 : 931-940. 1991
|
| 198 | NF1
|
| Identification and characterization of the neurofibromatosis type 1 protein product.
|
| DeClue JE, et al.
|
| Proc Natl Acad Sci U S A 88 : 9914-9918. 1991
|
| 199 | NF1
|
| A BglII RFLP near the human neurofibromatosis type 1 (NF1) gene.
|
| Watkins WS, et al.
|
| Nucleic Acids Res 19 : 6662. 1991
|
| 200 | NF1
|
| Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.
|
| Estivill X, et al.
|
| Hum Genet 88 : 185-188. 1991
|
| 201 | NF1
|
| Differential expression of two types of the neurofibromatosis type 1 (NF1) gene transcripts related to neuronal differentiation.
|
| Nishi T, et al.
|
| Oncogene 6 : 1555-1559. 1991
|
| 202 | NF1
|
| A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.
|
| Stark M, et al.
|
| Hum Genet 87 : 685-687. 1991
|
| 203 | NF1
|
| Brain tumors predominantly express the neurofibromatosis type 1 : gene transcripts containing the 63 base insert in the region coding for GTPase activating protein-related domain.
|
| Suzuki Y, et al.
|
| Biochem Biophys Res Commun 181 : 955-961. 1991
|
| 204 | NF1
|
| Lisch nodules in neurofibromatosis type 1.
|
| Lubs ML, et al.
|
| N Engl J Med 324 : 1264-1266. 1991
|
| 205 | NF1
|
| Segregation analysis of peripheral neurofibromatosis (NF1).
|
| Littler M, et al.
|
| J Med Genet 27 : 307-310. 1990
|
| 206 | NF1
|
| A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region.
|
| Wallace MR, et al.
|
| Genes Chromosomes Cancer 2 : 271-277. 1990
|
| 207 | NF1
|
| Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers.
|
| Ward K, et al.
|
| Am J Hum Genet 46 : 943-949. 1990
|
| 208 | NF1
|
| A major segment of the neurofibromatosis type 1 gene : cDNA sequence, genomic structure and point mutations.
|
| Cawthon RM, et al.
|
| Cell 62 : 193-201. 1990
|
| 209 | NF1, TP53
|
| Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis.
|
| Menon AG, et al.
|
| Proc Natl Acad Sci U S A 87 : 5435-5439. 1990
|
| 210 | AK3P1, NF1, OMG
|
| Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.
|
| Viskochil D, et al.
|
| Cell 62 : 187-192. 1990
|
| 211 | EVI2A, EVI2B, NF1
|
| Type I neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.
|
| Wallace MR, et al.
|
| Science 249 : 181-186. 1990
|
| 212 | NF1
|
| The neurofibromatosis type 1 gene encodes a protein related to GAP.
|
| Xu G, et al.
|
| Cell 62 : 599-608. 1990
|
| 213 | NF1
|
| Genetic and physical map of the von Recklinghausen neurofibromatosis (NF1) region on chromosome 17.
|
| Yagle MK, et al.
|
| Proc Natl Acad Sci U S A 87 : 7255-7259. 1990
|
| 214 | NF1
|
| The catalytic domain of the neurofibromatosis type 1 gene product stimulates ras GTPase and complements ira mutants of S. cervisiae.
|
| Xu G, et al.
|
| Cell 63 : 835-841. 1990
|
| 215 | NF1
|
| The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21.
|
| Martin GA, et al.
|
| Cell 63 : 843-849. 1990
|
| 216 | NF1
|
| A 90 kb DNA deletion associated with neurofibromatosis type 1.
|
| Upadhyaya M, et al.
|
| J Med Genet 27 : 738-741. 1990
|
| 217 | NF1
|
| Paternal origin of new mutations in von Recklinghausen neurofibromatosis.
|
| Jadayel D, et al.
|
| Nature 343 : 558-559. 1990
|
| 218 | NF1
|
| Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.
|
| Goldgar DE, Green P, Parry DM, Mulvihill JJ.
|
| Am J Hum Genet 44(1):6-12. 1989
|
| 219 | NF1
|
| Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I.
|
| O'Connell P, Leach RJ, Ledbetter DH, Cawthon RM, Culver M, Eldridge JR, Frej AK, Holm TR, Wolff E, Thayer MJ, et al.
|
| Am J Hum Genet 44(1):51-7. 1989
|
| 220 | NF1
|
| Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers.
|
| Kittur SD, Bagdon MM, Lubs ML, Phillips JA 3rd, Murray JC, Slaugenhaupt SA, Chakravarti A, Adler WH.
|
| Am J Hum Genet 44 : 48-50. 1989
|
| 221 | NF1
|
| Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17.
|
| Fountain JW, Wallace MR, Brereton AM, O'Connell P, White RL, Rich DC, Ledbetter DH, Leach RJ, Fournier RE, Menon AG, et al.
|
| Am J Hum Genet 44 : 58-67. 1989
|
| 222 | NF1
|
| Linkage analysis of chromosome 17 markers in british and south african families with neurofibromatosis type I.
|
| Mathew CG, Thorpe K, Easton DF, Chin KS, Jadayel D, Ponder M, Moore G, Wallis CE, Slater CP, De Jong G, et al.
|
| Am J Hum Genet 44 : 38-40. 1989
|
| 223 | NF1
|
| Close flanking markers for neurofibromatosis type I (NF1).
|
| Upadhyaya M, Sarfarazi M, Huson SM, Broadhead W, Fryer A, Harper PS.
|
| Am J Hum Genet 44 : 41-47. 1989
|
| 224 | NF1
|
| Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type 1.
|
| Vance JM, Pericak-Vance MA, Yamaoka LH, Speer MC, Rosenwasser GO, Small K, Gaskell PC Jr, Hung WY, Alberts MJ, Haynes CS, et al.
|
| Am J Hum Genet 44 : 25-29. 1989
|
| 225 | NF1
|
| A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.
|
| Diehl SR, Boehnke M, Erickson RP, Ploughman LM, Seiler KA, Lieberman JL, Clarke HB, Bruce MA, Schorry EK, Pericak-Vance M, et al.
|
| Am J Hum Genet 44 : 33-37. 1989
|
| 226 | NF1
|
| Precise localization of NF1 to 17q11.2 by balanced translocation.
|
| Ledbetter DH, Rich DC, O'Connell P, Leppert M, Carey JC.
|
| Am J Hum Genet 44 : 20-24. 1989
|
| 227 | NF1
|
| The von Recklinghausen neurofibromatosis region on chromosome 17. Genetic and physical maps come into focus.
|
| Collins FS, Ponder BA, Seizinger BR, Epstein CJ.
|
| Am J Hum Genet 44(1):1-5. 1989
|
| 228 | NF1
|
| Genetic analysis of eight loci tightly linked to neurofibromatosis 1.
|
| Stephens K, Green P, Riccardi VM, Ng S, Rising M, Barker D, Darby JK, Falls KM, Collins FS, Willard HF, et al.
|
| Am J Hum Genet 44 : 13-19. 1989
|
| 229 | NF1
|
| Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).
|
| Seizinger BR, Farmer GE, Haines JL, Ozelius LJ, Anderson K, Korf BR, Parry DM, Pericak-Vance MA, Mulvihill JJ, Menon A, et al.
|
| Am J Hum Genet 44 : 30-32. 1989
|
| 230 | NF1
|
| Physical mapping of a translocation breakpoint in neurofibromatosis.
|
| Fountain JW, Wallace MR, Bruce MA, Seizinger BR, Menon AG, Gusella JF, Michels VV, Schmidt MA, Dewald GW, Collins FS.
|
| Science 244 : 1085-1087. 1989
|
| 231 | NF1
|
| Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17.
|
| Menon AG, Ledbetter DH, Rich DC, Seizinger BR, Rouleau GA, Michels VF, Schmidt MA, Dewald G, DallaTorre CM, Haines JL, et al.
|
| Genomics 5 : 245-249. 1989
|
| 232 | NF1
|
| Two NF1 translocations map within a 600-kilobase segment of 17q11.2.
|
| O'Connell P, Leach R, Cawthon RM, Culver M, Stevens J, Viskochil D, Fournier RE, Rich DC, Ledbetter DH, White R.
|
| Science 244(4908):1087-8. 1989
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| 233 | NF1
|
| Refined physical and genetic mapping of the NF1 region on chromosome 17.
|
| Fain PR, et al.
|
| Am J Hum Genet 45 : 721-728. 1989
|
| 234 | NF1
|
| Molecular genetic analysis of tumors in von Recklinghausen neurofibromatosis : loss of heterozygosity for chromosome 17.
|
| Skuse GR, et al.
|
| Genes Chromosomes Cancer 1 : 36-41. 1989
|
| 235 | NF1
|
| The order of loci in the pericentric region of chromosome 17, based on evidence from physical and genetic breakpoints.
|
| Fain PR, et al.
|
| Am J Hum Genet 44 : 68-72. 1989
|
| 236 | NF1
|
| Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene.
|
| Seizinger BR, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 690. 1987
|
| 237 | NF1
|
| Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.
|
| Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J, et al.
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| Science 236(4805):1100-2. 1987
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| 238 | NF1
|
| Linkage of NF1 to 12 chromosome 17 markers : a summary of eight concurrent reports.
|
| Skolnick MH, et al.
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| Genomics 1 : 382-383. 1987
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| 239 | NF1
|
| Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17.
|
| Diehl SR, Boehnke M, Erickson RP, Baxter AB, Bruce MA, Lieberman JL, Platt DJ, Ploughman LM, Seiler KA, Sweet AM, et al.
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| Genomics 1(4):361-3. 1987
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| 240 | NF1
|
| Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).
|
| Pericak-Vance MA, et al.
|
| Genomics 1 : 349-352. 1987
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| 241 | NF1
|
| Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17.
|
| Seizinger BR, et al.
|
| Genomics 1 : 346-348. 1987
|
| 242 | NF1, NGFR
|
| Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families.
|
| Stephens K, Riccardi VM, Rising M, Ng S, Green P, Collins FS, Rediker KS, Powers JA, Parker C, Donis-Keller H.
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| Genomics 1(4):353-7. 1987
|
| 243 | NF1, COL1A1
|
| Chromosome 17 markers and von Recklinghausen neurofibromatosis : a genetic linkage study in a British population.
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| Upadhyaya M, Sarfarazi M, Huson SM, Stephens K, Broadhead W, Harper PS.
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| Genomics 1(4):358-60. 1987
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| 244 | NF1
|
| Regional mapping panel for human chromosome 17 : application to neurofibromatosis type 1.
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| van Tuinen P, Rich DC, Summers KM, Ledbetter DH.
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| Genomics 1(4):374-81. 1987
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| 245 | NF1
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| Tightly linked markers for neurofibromatosis type 1 gene.
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| White R, Nakamura Y, O'Connell P, Leppert M, Lalouel JM, Barker D, Goldgar D, Skolnick M, Carey J, Wallis CE, et al.
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| Genomics 1(4):364-7. 1987
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| 246 | NF1
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| Molecular organization and haplotype analysis of centomeric DNA from human chromosome 17 : implications for linkage in neurofibromatosis.
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| Willard HF, et al.
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| Genomics 1 : 368-373. 1987
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| 247 | NF1, NF1DEL
|
| Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2.
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| Schmidt MA, et al.
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| Am J Med Genet 28 : 771-777. 1987
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| 248 | NF1, NGF
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| A discordant sibship analysis between beta-NGF and neurofibromatosis.
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| Darby JK, et al.
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| Am J Hum Genet 37 : 52-59. 1985
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| 249 | NF1
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| Value of S-100 protein in the diagnosis of soft tissue tumors with particular reference to benign and malignant Schwann cell tumors.
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| Weiss SW, Langloss JM, Enzinger FM.
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| Lab Invest 49(3):299-308. 1983
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