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Incidence and mortality of neurofibromatosis: a total population study in Finland.

作者信息

Uusitalo Elina, Leppävirta Jussi, Koffert Anna, Suominen Sakari, Vahtera Jussi, Vahlberg Tero, Pöyhönen Minna, Peltonen Juha, Peltonen Sirkku

机构信息

Department of Cell Biology and Anatomy, University of Turku, Turku, Finland; These authors contributed equally to this work.

Department of Dermatology, University of Turku and Turku University Hospital, Turku, Finland; These authors contributed equally to this work.

出版信息

J Invest Dermatol. 2015 Mar;135(3):904-906. doi: 10.1038/jid.2014.465. Epub 2014 Oct 29.

DOI:10.1038/jid.2014.465
PMID:25354145
Abstract
摘要

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Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.神经纤维瘤病 1 中的死亡率:在英格兰西北部:自 1989 年以来在英国一个地区对计算生存概率的评估。
Eur J Hum Genet. 2011 Nov;19(11):1187-91. doi: 10.1038/ejhg.2011.113. Epub 2011 Jun 22.
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Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France.与神经纤维瘤病 1 相关的死亡率:法国 1980-2006 年 1895 例患者的队列研究。
Orphanet J Rare Dis. 2011 May 4;6:18. doi: 10.1186/1750-1172-6-18.
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The pathoetiology of neurofibromatosis 1.
Surgical and radiation considerations in breast cancer with neurofibromatosis type 1: A case report and literature review.
1型神经纤维瘤病合并乳腺癌的手术及放疗考量:1例病例报告及文献综述
Int J Surg Case Rep. 2025 Jul 17;134:111698. doi: 10.1016/j.ijscr.2025.111698.
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Hospital Use, Morbidity, and Cancer Risk by Age Group in Neurofibromatosis Type 1: A Nationwide Retrospective Cohort Study.1型神经纤维瘤病按年龄组划分的医院使用情况、发病率和癌症风险:一项全国性回顾性队列研究
Acta Derm Venereol. 2025 Jun 25;105:adv43416. doi: 10.2340/actadv.v105.43416.
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Call for neurofibromatosis specialty care clinics in South Carolina.呼吁在南卡罗来纳州设立神经纤维瘤病专科护理诊所。
J Community Genet. 2025 May 31. doi: 10.1007/s12687-025-00803-5.
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The Role of Artificial Intelligence in Identifying Gene Variants and Improving Diagnosis.人工智能在识别基因变异和改善诊断方面的作用。
Genes (Basel). 2025 May 7;16(5):560. doi: 10.3390/genes16050560.
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A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.NF1基因中一个破坏剪接的新型同义变异体促成了神经纤维瘤病的发病机制。
Front Genet. 2025 May 9;16:1572487. doi: 10.3389/fgene.2025.1572487. eCollection 2025.
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Genet Mol Biol. 2025 Apr 25;48(1):e20240144. doi: 10.1590/1678-4685-GMB-2024-0144. eCollection 2025.
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Treatment for paraplegia due to severe kyphoscoliosis associated with neurofibromatosis type 1 via halo-pelvic traction: a case report.通过头环骨盆牵引治疗1型神经纤维瘤病相关严重脊柱后凸侧弯所致截瘫:1例报告
J Med Case Rep. 2025 May 19;19(1):235. doi: 10.1186/s13256-025-05293-0.
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Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC.小儿肿瘤抑制基因突变的眼部表现:RB1、NF1、NF2、VHL和TSC的病例系列及文献综述
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Data quality and quality control of a population-based cancer registry. Experience in Finland.基于人群的癌症登记处的数据质量与质量控制。芬兰的经验。
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