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Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.

National Institutes of Health consensus development conference statement. Bethesda, MD, July 13-15, 1987. Neurofibromatosis. 1988;1(3):172-8.

Mulvihill JJ, Parry DM, Sherman JL, et al. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med. 1990 Jul 1;113(1):39-52.

Rodrigues LO, Batista PB, Goloni-Bertollo EM, et al. Neurofibromatoses: part 1 - diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014 Mar;72(3):241-50.

Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541-55.

Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007;61:189-198.

Lammert M, Friedman JM, Kluwe L, et al. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141:71-74.

Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002 May;39(5):311-4.

参考文章

1.  Riccardi VM. Neurofibromatosis: phenotype, natural history and pathogenesis. 2nd ed. Baltimore, MD: Johns Hopkins University Press; 1992.

2.  National Institutes of Health consensus development conference statement. Bethesda, MD, July 13-15, 1987. Neurofibromatosis. 1988;1(3):172-8.

3.  Mulvihill JJ, Parry DM, Sherman JL, et al. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med. 1990 Jul 1;113(1):39-52.

4.  Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the Nf1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet. 2007 Jan;80(1):140-51.

5.  Sharif S, Upadhyaya M, Ferner R, et al. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. J Med Genet. 2011 Apr;48(4):256-60.

6.  Riccardi VM. Cutaneous manifestations of neurofibromatosis: cellular interaction, pigmentation, and mast cells. Birth Defects. 1981;17:129-45.

7.  Rodrigues LO, Batista PB, Goloni-Bertollo EM, et al. Neurofibromatoses: part 1 - diagnosis and differential diagnosis. Arq Neuropsiquiatr. 2014 Mar;72(3):241-50.

8.  Petri BJ, van Eijck CH, de Herder WW, et al. Phaeochromocytomas and sympathetic paragangliomas. Br J Surg. 2009 Dec;96(12):1381-92.

9.  Evans DGR, Salvador H, Chang VY, et al. Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 1. Clin Cancer Res. 2017 Jun 15;23(12):e46-e53.

10.  Lewis RA, Gerson LP, Axelson KA, et al. Von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata. Ophthalmology. 1984 Aug;91(8):929-35.

11.  Samuelsson B, Riccardi VM. Neurofibromatosis in Gothenburg, Sweden. II. Intellectual compromise. Neurofibromatosis. 1989;2(2):78-83.

12.  Samuelsson B, Riccardi VM. Neurofibromatosis in Gothenburg, Sweden. III. Psychiatric and social aspects. Neurofibromatosis. 1989;2(2):84-106.

13.  Erb MH, Uzcategui N, See RF, et al. Orbitotemporal neurofibromatosis: classification and treatment. Orbit. 2007 Dec;26(4):223-8.

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16.  Ferner RE, Lucas JD, O'Doherty MJ, et al. Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry. 2000 Mar;68(3):353-7.

17.  Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541-55.

18.  Baser ME, Friedman JM, Wallace AJ, et al. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology. 2002 Dec 10;59(11):1759-65.

19.  Baser ME, Kuramoto L, Woods R, et al. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet. 2005 Jul;42(7):540-6.

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22.  Brunner HG, Hulsebos T, Steijlen PM, et al. Exclusion of the neurofibromatosis 1 locus in a family with inherited cafe-au-lait spots. Am J Med Genet. 1993 Jun 1;46(4):472-4.

23.  Brems H, Pasmant E, Van Minkelen R, et al. Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat. 2012 Nov;33(11):1538-46.

24.  Brems H, Chmara M, Sahbatou M, et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9):1120-6.

25.  Biesecker LG, Happle R, Mulliken JB, et al. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet. 1999 Jun 11;84(5):389-95.

26.  Burkitt Wright EM, Sach E, Sharif S, et al. Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. J Med Genet. 2013 Sep;50(9):606-13.

27.  Listernick R, Ferner RE, Liu GT, et al. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol. 2007;61:189-198.

28.  Evans DG, Bowers N, Burkitt-Wright E. Comprehensive RNA analysis of the NF1 gene in classically affected NF1 affected individuals meeting NIH criteria has high sensitivity and mutation negative testing is reassuring in isolated cases with pigmentary features only. Ebiomedicine. 2016 Apr [Epub ahead of print].

29.  Lammert M, Friedman JM, Kluwe L, et al. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141:71-74.

30.  Uusitalo E, Kallionpää RA, Kurki S, et al. Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors. Br J Cancer. 2017;116:211-217.

31.  Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet. 2007;44:481-484.

32.  Riccardi VM. Mast-cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen. Arch Dermatol. 1987 Aug;123(8):1011-6.

33.  Riccardi VM. A controlled multiphase trial of ketotifen to minimize neurofibroma-associated pain and itching. Arch Dermatol. 1993 May;129(5):577-81.

34.  Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002 May;39(5):311-4.

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38.  Relles D, Baek J, Witkiewicz A, et al. Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases. J Gastrointest Surg. 2010 Jun;14(6):1052-61.

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40.  Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 2016 Dec 29;375(26):2550-60.

41.  Demetri GD, Reichardt P, Kang YK, et al; GRID study investigators. Efficacy and safety of regorafenib for advanced gastrointestinal stromal tumours after failure of imatinib and sunitinib (GRID): an international, multicentre, randomised, placebo-controlled, phase 3 trial. Lancet. 2013 Jan 26;381(9863):295-302.

42.  Li W, Cui Y, Kushner SA, et al. The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1. Curr Biol. 2005 Nov 8;15(21):1961-7.

43.  Mainberger F, Jung NH, Zenker M, et al. Lovastatin improves impaired synaptic plasticity and phasic alertness in patients with neurofibromatosis type 1. BMC Neurol. 2013 Oct 2;13:131.

44.  van der Vaart T, Plasschaert E, Rietman AB, et al. Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol. 2013 Nov;12(11):1076-83.

45.  Duong TA, Sbidian E, Valeyrie-Allanore L, et al. Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis. 2011 May 4;6:18.

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