• 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

Multinodular Goiter in children: an important pointer to a germline DICER1 mutation.

作者信息

Rath Shoshana R, Bartley Anthony, Charles Adrian, Powers Neil, Baynam Gareth, Jones Timothy, Priest John R, Foulkes William D, Choong Catherine S Y

机构信息

Department of Endocrinology and Diabetes (S.R.R., T.J., C.S.Y.C.), Princess Margaret Hospital for Children; School of Pediatrics and Child Health (S.R.R., G.B., T.J., C.S.Y.C.), University of Western Australia; Departments of Pathology (A.C.), and Diagnostic Imaging (A.B., N.P.), Princess Margaret Hospital for Children; Genetic Services of Western Australia (G.B.), Princess Margaret and King Edward Memorial Hospitals; Institute for Immunology and Infectious Diseases (G.B.), Murdoch University; Telethon Institute for Child Health Research (T.J.), Perth, WA 6008, Australia; (J.R.P.), Minneapolis, Minnesota; and Program in Cancer Genetics, Department of Oncology and Human Genetics (W.D.F.), McGill University, Montreal, QC H3T 1E2, Canada.

出版信息

J Clin Endocrinol Metab. 2014 Jun;99(6):1947-8. doi: 10.1210/jc.2013-3932. Epub 2014 Mar 14.

DOI:10.1210/jc.2013-3932
PMID:24628552
Abstract
摘要

相似文献

1
Multinodular Goiter in children: an important pointer to a germline DICER1 mutation.儿童多结节性甲状腺肿：生殖系DICER1突变的重要指示
J Clin Endocrinol Metab. 2014 Jun;99(6):1947-8. doi: 10.1210/jc.2013-3932. Epub 2014 Mar 14.
2
A novel DICER1 mutation in familial multinodular goitre.家族性结节性甲状腺肿中的一种新型DICER1突变
Clin Endocrinol (Oxf). 2018 Jul;89(1):110-112. doi: 10.1111/cen.13613. Epub 2018 May 4.
3
A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?1例DICER1综合征合并神经母细胞瘤：偶然发现还是非典型病因？
Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26715. Epub 2017 Aug 2.
4
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree.在一个DICER1综合征家系中的胸膜肺母细胞瘤、囊性肾瘤和横纹肌肉瘤肿瘤中鉴定体细胞和生殖系DICER1突变。
BMC Cancer. 2017 Feb 21;17(1):146. doi: 10.1186/s12885-017-3136-5.
5
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.家族性多发性结节性甲状腺肿伴和不伴卵巢 Sertoli-Leydig 细胞瘤中 DICER1 突变。
JAMA. 2011 Jan 5;305(1):68-77. doi: 10.1001/jama.2010.1910.
6
Mutiple DICER1-related lesions associated with a germline deep intronic mutation.与胚系深内含子突变相关的多个 DICER1 相关病变。
Pediatr Blood Cancer. 2018 Jun;65(6):e27005. doi: 10.1002/pbc.27005. Epub 2018 Feb 22.
7
Germline DICER1 mutations and familial cystic nephroma.胚系 DICER1 突变与家族性囊性肾瘤。
J Med Genet. 2010 Dec;47(12):863-6. doi: 10.1136/jmg.2010.081216. Epub 2010 Oct 29.
8
Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame deletion.家族性多结节性甲状腺肿与塞尔托利-莱迪希细胞瘤伴大的基因内框内缺失相关。
Eur J Endocrinol. 2018 Feb;178(2):K11-K19. doi: 10.1530/EJE-17-0904. Epub 2017 Nov 29.
9
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.使用合成寡核苷酸的新型多重连接探针扩增（MLPA）检测揭示的DICER1种系缺失
Eur J Hum Genet. 2014 Apr;22(4):564-7. doi: 10.1038/ejhg.2013.215. Epub 2013 Sep 25.
10
A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.一种基于基因组的方法来描述 DICER1 致病性变异的患病率、外显率和表型。
JAMA Netw Open. 2021 Feb 1;4(2):e210112. doi: 10.1001/jamanetworkopen.2021.0112.

引用本文的文献

1
[DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report].[1岁内表现为生殖器胚胎性横纹肌肉瘤的DICER1综合征：病例报告]
Probl Endokrinol (Mosk). 2025 Jul 22;71(3):46-50. doi: 10.14341/probl13501.
2
Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.颅内中枢神经系统肿瘤的突变谱——综述及来自CNS-InterREST GPOH研究中心的报告
Cancers (Basel). 2025 Apr 30;17(9):1513. doi: 10.3390/cancers17091513.
3
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
临床、生化及分子遗传学分析证明，一种新的致病性DICER1基因变异与阿根廷一个家族的遗传性多结节性甲状腺肿相关。
Endocrine. 2025 Mar;87(3):1150-1161. doi: 10.1007/s12020-024-04098-3. Epub 2024 Nov 28.
4
DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review.DICER1综合征：多中心手术经验及系统评价
Cancers (Basel). 2023 Jul 19;15(14):3681. doi: 10.3390/cancers15143681.
5
Ultrasound features of multinodular goiter in DICER1 syndrome.DICER1 综合征患者的多发性结节性甲状腺肿的超声特征。
Sci Rep. 2022 Sep 23;12(1):15888. doi: 10.1038/s41598-022-19709-0.
6
Proceedings of the North American Society of Head and Neck Pathology, Los Angeles, CA, March 20, 2022: DICER1-Related Thyroid Tumors.北美头颈部病理学会会议记录，加利福尼亚州洛杉矶，2022 年 3 月 20 日：DICER1 相关甲状腺肿瘤。
Head Neck Pathol. 2022 Mar;16(1):190-199. doi: 10.1007/s12105-022-01417-w. Epub 2022 Mar 21.
7
Intrathyroidal Thymus (Incidentaloma) Mimicking Thyroid Neoplasia in DICER1 Syndrome.DICER1综合征中酷似甲状腺肿瘤的甲状腺内胸腺（偶发瘤）
Eur Thyroid J. 2021 Jun;10(3):257-261. doi: 10.1159/000510004. Epub 2020 Nov 4.
8
DICER1 Syndrome: DICER1 Mutations in Rare Cancers.DICER1综合征：罕见癌症中的DICER1突变
Cancers (Basel). 2018 May 15;10(5):143. doi: 10.3390/cancers10050143.
9
Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.DICER1综合征中甲状腺癌和多结节性甲状腺肿风险的量化：一项基于家庭的队列研究。
J Clin Endocrinol Metab. 2017 May 1;102(5):1614-1622. doi: 10.1210/jc.2016-2954.
10
Macrocephaly associated with the DICER1 syndrome.与DICER1综合征相关的巨头畸形。
Genet Med. 2017 Feb;19(2):244-248. doi: 10.1038/gim.2016.83. Epub 2016 Jul 21.