• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.史密斯-马吉尼斯综合征中的伯-霍-杜三氏症状包括小儿期气胸。
Am J Med Genet A. 2021 Jun;185(6):1922-1924. doi: 10.1002/ajmg.a.62159. Epub 2021 Mar 5.
2
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.诊断史密斯-马根尼斯综合征患者存在伯特-霍格-杜布综合征：癌症筛查建议。
Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13.
3
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.一名患有史密斯-马吉尼斯综合征的成年男性的双侧肾肿瘤：卵泡抑素相关蛋白（FLCN）基因的作用
Eur J Med Genet. 2016 Oct;59(10):499-501. doi: 10.1016/j.ejmg.2016.09.005. Epub 2016 Sep 12.
4
Delayed diagnosis of Birt-Hogg-Dubé syndrome due to marked intrafamilial clinical variability: a case report.因家族内临床表现明显差异而导致的伯特-霍格-杜布综合征延迟诊断：病例报告。
BMC Med Genet. 2018 Mar 16;19(1):45. doi: 10.1186/s12881-018-0558-0.
5
Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts.Birt-Hogg-Dubé 综合征的皮肤损害：31 例以气胸和/或多发性肺囊肿为表现的日本患者的临床和组织病理学发现。
J Dermatol Sci. 2018 Jan;89(1):77-84. doi: 10.1016/j.jdermsci.2017.10.014. Epub 2017 Nov 2.
6
[Birt-Hogg-Dubé syndrome is a rare but important cause of pneumothorax].Birt-Hogg-Dubé综合征是气胸的一种罕见但重要的病因。
Ugeskr Laeger. 2018 Jan 29;180(5).
7
Birt-Hogg-Dubé syndrome with multiple cysts and recurrent pneumothorax: pathological findings.伴有多发囊肿和复发性气胸的Birt-Hogg-Dubé综合征：病理结果
Intern Med. 2010;49(19):2137-42. doi: 10.2169/internalmedicine.49.3670. Epub 2010 Oct 1.
8
A Case of Recurrent Pneumothorax Associated with Birt-Hogg-Dubé Syndrome Treated with Bilateral Simultaneous Surgery and Total Pleural Covering.一例复发性气胸合并Birt-Hogg-Dubé综合征患者行双侧同期手术及全胸膜覆盖治疗
Ann Thorac Cardiovasc Surg. 2017 Dec 20;23(6):309-312. doi: 10.5761/atcs.cr.16-00295. Epub 2017 Jul 10.
9
How reliable are clinical criteria in distinguishing between Birt-Hogg-Dubé syndrome and smoking as a cause for pneumothorax?在鉴别Birt-Hogg-Dubé综合征与吸烟作为气胸病因时，临床标准的可靠性如何？
Histopathology. 2014 Jun;64(7):1045-6. doi: 10.1111/his.12362. Epub 2014 Mar 8.
10
Birt-Hogg-Dubé syndrome: a rare cause of familial spontaneous pneumothorax.Birt-Hogg-Dubé综合征：家族性自发性气胸的罕见病因。
Hong Kong Med J. 2017 Aug;23(4):416.e4-5. doi: 10.12809/hkmj165022.

引用本文的文献

1
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.诊断史密斯-马根尼斯综合征患者存在伯特-霍格-杜布综合征：癌症筛查建议。
Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13.
2
Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.在医疗体系人群中，截断型 FLCN 变异体和 Birt-Hogg-Dubé 相关表型的出现频率。
Genet Med. 2022 Sep;24(9):1857-1866. doi: 10.1016/j.gim.2022.05.006. Epub 2022 May 31.
3
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.史密斯-马吉尼综合征-临床综述、生物学背景及相关疾病。
Genes (Basel). 2022 Feb 11;13(2):335. doi: 10.3390/genes13020335.
4
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.患有神经发育性精神科拷贝数变异的 MyCode 成年参与者的医学表现和医疗保健利用。
Genet Med. 2022 Mar;24(3):703-711. doi: 10.1016/j.gim.2021.11.010. Epub 2021 Nov 18.
5
Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.导致史密斯-马吉尼斯综合征的RAI1基因致病变异可能存在报告不足的情况。
Am J Med Genet A. 2021 Oct;185(10):3167-3169. doi: 10.1002/ajmg.a.62380. Epub 2021 Jun 4.

本文引用的文献

1
ClinVar: improving access to variant interpretations and supporting evidence.ClinVar：改善变异解读和支持证据的获取。
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067. doi: 10.1093/nar/gkx1153.
2
Birt-Hogg-Dubé syndrome: a case report and a review of the literature.Birt-Hogg-Dubé综合征：一例病例报告及文献综述
Eur Clin Respir J. 2017 Feb 20;4(1):1292378. doi: 10.1080/20018525.2017.1292378. eCollection 2017.
3
Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene.一名患有史密斯-马吉尼斯综合征的成年男性的双侧肾肿瘤：卵泡抑素相关蛋白（FLCN）基因的作用
Eur J Med Genet. 2016 Oct;59(10):499-501. doi: 10.1016/j.ejmg.2016.09.005. Epub 2016 Sep 12.
4
Birt-Hogg-Dubé Syndrome.Birt-Hogg-Dubé 综合征。
Clin Chest Med. 2016 Sep;37(3):475-86. doi: 10.1016/j.ccm.2016.04.010. Epub 2016 Jun 25.
5
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.Birt-Hogg-Dubé综合征的分子遗传学与临床特征
Nat Rev Urol. 2015 Oct;12(10):558-69. doi: 10.1038/nrurol.2015.206. Epub 2015 Sep 1.
6
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.史密斯-马根尼斯综合征：RAI1 基因杂合缺失导致神经和代谢途径中基因调控改变。
Expert Rev Mol Med. 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827.
7
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.Smith-Magenis 综合征中发现移码突变热点：病例报告及文献复习。
BMC Med Genet. 2010 Oct 8;11:142. doi: 10.1186/1471-2350-11-142.
8
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.史密斯-马吉尼斯综合征的性别、基因型和表型差异：105例病例的荟萃分析
Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x.
9
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.89个Birt-Hogg-Dubé综合征家庭中的肺囊肿、自发性气胸及基因关联
Am J Respir Crit Care Med. 2007 May 15;175(10):1044-53. doi: 10.1164/rccm.200610-1483OC. Epub 2007 Feb 22.
10
Spontaneous pneumothorax.自发性气胸
N Engl J Med. 2000 Mar 23;342(12):868-74. doi: 10.1056/NEJM200003233421207.

Birt-Hogg-Dubé symptoms in Smith-Magenis syndrome include pediatric-onset pneumothorax.

作者信息

Finucane Brenda, Savatt Juliann M, Shimelis Hermela, Girirajan Santhosh, Myers Scott M

机构信息

Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania, USA.

Department of Biochemistry and Molecular Biology, and Department of Anthropology, Pennsylvania State University, State College, Pennsylvania, USA.

出版信息

Am J Med Genet A. 2021 Jun;185(6):1922-1924. doi: 10.1002/ajmg.a.62159. Epub 2021 Mar 5.

DOI:10.1002/ajmg.a.62159
PMID:33666332
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9540435/
Abstract
摘要