回复：与颅内肿瘤相关的家族综合征：综述 - Suppr

Reply to: Familial syndromes associated with intracranial tumours: a review.

作者信息

Bleeker Fonnet E

机构信息

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Room M0-206, Meibergdreef 9, Amsterdam, The Netherlands.

出版信息

Childs Nerv Syst. 2015 Nov;31(11):1999-2001. doi: 10.1007/s00381-015-2868-2. Epub 2015 Aug 9.

DOI:10.1007/s00381-015-2868-2

PMID:26255151

Abstract

摘要

相似文献

Reply to: Familial syndromes associated with intracranial tumours: a review.回复：与颅内肿瘤相关的家族综合征：综述

Childs Nerv Syst. 2015 Nov;31(11):1999-2001. doi: 10.1007/s00381-015-2868-2. Epub 2015 Aug 9.

Familial syndromes associated with intracranial tumours: a review.与颅内肿瘤相关的家族综合征：综述

Childs Nerv Syst. 2014 Jan;30(1):47-64. doi: 10.1007/s00381-013-2309-z. Epub 2013 Nov 6.

Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-society Task Force on Colorectal Cancer.双等位基因错配修复缺陷（BMMRD）综合征监测与管理建议：美国结直肠癌多学会特别工作组共识声明

J Pediatr Gastroenterol Nutr. 2017 May;64(5):836-843. doi: 10.1097/MPG.0000000000001578.

Precision Therapy for Brain Tumors in Hereditary Syndromes.遗传性综合征脑肿瘤的精准治疗。

Curr Treat Options Oncol. 2021 Jul 2;22(9):80. doi: 10.1007/s11864-021-00876-7.

[Familial cavernous hemangioma].

Ned Tijdschr Geneeskd. 1999 Sep 25;143(39):1981-2.

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.先天性错配修复缺陷综合征：法国队列中的临床描述

J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28.

Diagnosis and Management of Hereditary Meningioma and Vestibular Schwannoma.遗传性脑膜瘤和前庭神经鞘瘤的诊断与管理

Recent Results Cancer Res. 2016;205:17-27. doi: 10.1007/978-3-319-29998-3_2.

Diagnosis and Management of Hereditary Adrenal Cancer.遗传性肾上腺癌的诊断与管理

Recent Results Cancer Res. 2016;205:125-47. doi: 10.1007/978-3-319-29998-3_8.

Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.双等位基因错配修复缺陷（BMMRD）综合征监测与管理建议：美国结直肠癌多学会工作组共识声明

Am J Gastroenterol. 2017 May;112(5):682-690. doi: 10.1038/ajg.2017.105. Epub 2017 Mar 28.

Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.双等位基因错配修复缺陷 (BMMRD) 综合征监测和管理建议：美国结直肠癌多学会工作组的共识声明。

Gastroenterology. 2017 May;152(6):1605-1614. doi: 10.1053/j.gastro.2017.02.011. Epub 2017 Mar 28.

本文引用的文献

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.SUFU 种系突变导致 Gorlin 综合征相关儿童髓母细胞瘤，并重新定义了与 PTCH1 突变相关的风险。

J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17.

Brain tumors and syndromes in children.儿童脑肿瘤与综合征

Neuropediatrics. 2014 Jun;45(3):137-61. doi: 10.1055/s-0034-1368116. Epub 2014 Feb 17.

IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.IDH2 和 TP53 突变与 Maffucci 综合征患者的胶质瘤发生相关。

Cancer Sci. 2014 Mar;105(3):359-62. doi: 10.1111/cas.12337.

Familial syndromes associated with intracranial tumours: a review.与颅内肿瘤相关的家族综合征：综述

Childs Nerv Syst. 2014 Jan;30(1):47-64. doi: 10.1007/s00381-013-2309-z. Epub 2013 Nov 6.

Subgroup-specific prognostic implications of TP53 mutation in medulloblastoma.髓母细胞瘤中 TP53 突变的亚组特异性预后意义。

J Clin Oncol. 2013 Aug 10;31(23):2927-35. doi: 10.1200/JCO.2012.48.5052. Epub 2013 Jul 8.

High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age.3 岁以下促纤维增生/结节性髓母细胞瘤患儿中胚系 SUFU 突变的高频发生。

J Clin Oncol. 2012 Jun 10;30(17):2087-93. doi: 10.1200/JCO.2011.38.7258. Epub 2012 Apr 16.

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations.对小儿髓母细胞瘤的基因组测序将灾难性的 DNA 重排与 TP53 突变联系起来。

Cell. 2012 Jan 20;148(1-2):59-71. doi: 10.1016/j.cell.2011.12.013.

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.奥里耶病和马富西综合征是由 IDH1 和 IDH2 的体细胞镶嵌突变引起的。

Nat Genet. 2011 Nov 6;43(12):1262-5. doi: 10.1038/ng.994.

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.体细胞镶嵌性 IDH1 和 IDH2 突变与 Ollier 病和 Maffucci 综合征中的软骨瘤和梭形细胞血管瘤有关。

Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004.

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study.胚系 TP53 突变携带者 Li-Fraumeni 综合征的生化和影像学监测：一项前瞻性观察研究。

Lancet Oncol. 2011 Jun;12(6):559-67. doi: 10.1016/S1470-2045(11)70119-X. Epub 2011 May 19.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Reply to: Familial syndromes associated with intracranial tumours: a review.

作者信息

机构信息

出版信息

相似文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

本文引用的文献