Similar articles for PMID: 12566521

Year	Number of Results
1986	2
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1998	1
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2015	8
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2017	5
2018	8
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2022	1
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2024	0

1

Independent NF1 mutations in two large families with spinal neurofibromatosis.

Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Karvonen SL, Leisti EL, Koivunen J, Vandenbroucke I, Stephens K, Pöyhönen M. Messiaen L, et al. J Med Genet. 2003 Feb;40(2):122-6. doi: 10.1136/jmg.40.2.122. J Med Genet. 2003. PMID: 12566521 Free PMC article. No abstract available.

2

Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.

Origone P, De Luca A, Bellini C, Buccino A, Mingarelli R, Costabel S, La Rosa C, Garrè C, Coviello DA, Ajmar F, Dallapiccola B, Bonioli E. Origone P, et al. Hum Mutat. 2002 Jul;20(1):74-5. doi: 10.1002/humu.9039. Hum Mutat. 2002. PMID: 12112660

3

Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.

Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G. Wiest V, et al. Hum Mutat. 2003 Dec;22(6):423-7. doi: 10.1002/humu.10272. Hum Mutat. 2003. PMID: 14635100

4

Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease.

Kimura N, Watanabe T, Fukase M, Wakita A, Noshiro T, Kimura I. Kimura N, et al. Mod Pathol. 2002 Mar;15(3):183-8. doi: 10.1038/modpathol.3880513. Mod Pathol. 2002. PMID: 11904334

5

Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.

Terzi YK, Sirin B, Hosgor G, Serdaroglu E, Anlar B, Aysun S, Ayter S. Terzi YK, et al. Childs Nerv Syst. 2012 Jun;28(6):943-6. doi: 10.1007/s00381-011-1648-x. Epub 2011 Dec 9. Childs Nerv Syst. 2012. PMID: 22159552 No abstract available.

6

Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.

Cai Y, Fan Z, Liu Q, Li J, Du J, Shen Y, Wang S. Cai Y, et al. J Dermatol Sci. 2005 Aug;39(2):125-7. doi: 10.1016/j.jdermsci.2005.05.003. J Dermatol Sci. 2005. PMID: 16005615 No abstract available.

7

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

Esposito T, Piluso G, Saracino D, Uccello R, Schettino C, Dato C, Capaldo G, Giugliano T, Varriale B, Paolisso G, Di Iorio G, Melone MA. Esposito T, et al. J Neurochem. 2015 Dec;135(6):1123-8. doi: 10.1111/jnc.13396. Epub 2015 Nov 12. J Neurochem. 2015. PMID: 26478990 Free article.

8

Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation.

Kannu P, Nour M, Irving M, Xie J, Loder D, Lai J, Islam O, MacKenzie J, Messiaen L. Kannu P, et al. Clin Genet. 2013 Feb;83(2):191-4. doi: 10.1111/j.1399-0004.2012.01882.x. Epub 2012 Apr 25. Clin Genet. 2013. PMID: 22533502 No abstract available.

9

NF1 mutations and molecular testing.

Thomson SA, Fishbein L, Wallace MR. Thomson SA, et al. J Child Neurol. 2002 Aug;17(8):555-61; discussion 571-2, 646-51. doi: 10.1177/088307380201700803. J Child Neurol. 2002. PMID: 12403553 Review.

10

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Jeong SY, Park SJ, Kim HJ. Jeong SY, et al. J Korean Med Sci. 2006 Feb;21(1):107-12. doi: 10.3346/jkms.2006.21.1.107. J Korean Med Sci. 2006. PMID: 16479075 Free PMC article.

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