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Generalised mosaicism for mutation in isolated lymphangioleiomyomatosis.

作者信息

Ogórek Barbara, Hamieh Lana, Lasseter Kathryn, Bagwe Shefali, Machado Tania, Herranz-Ors Carmen, Thorner Aaron R, Nag Anwesha, Gulleman Peter, Giannikou Krinio, Young Lisa R, Pujana Miquel Àngel, Darling Thomas N, El-Chemaly Souheil, Moss Joel, Henske Elizabeth P, Kwiatkowski David J

机构信息

Dept of Medicine, Brigham and Women's Hospital, Boston, MA, USA.

Pulmonary Branch, National Heart, Lung, and Blood Institute (NHLBI), Bethesda, MD, USA.

出版信息

Eur Respir J. 2019 Oct 10;54(4). doi: 10.1183/13993003.00938-2019. Print 2019 Oct.

DOI:10.1183/13993003.00938-2019
PMID:31273045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7340110/
Abstract
摘要

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本文引用的文献

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Nat Rev Genet. 2019 Feb;20(2):71-88. doi: 10.1038/s41576-018-0071-5.
2
Pulmonary manifestations in tuberous sclerosis complex.结节性硬化症的肺部表现。
Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):326-337. doi: 10.1002/ajmg.c.31638. Epub 2018 Jul 28.
3
Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent biallelic inactivation, and no mutations.结节性硬化症中的室管膜下巨细胞星形细胞瘤存在一致的双等位基因失活,且无突变。
散发性淋巴管平滑肌瘤病中的基因突变与基因型-表型相关性分析。
BMC Pulm Med. 2022 Sep 18;22(1):354. doi: 10.1186/s12890-022-02154-0.
Oncotarget. 2017 Sep 8;8(56):95516-95529. doi: 10.18632/oncotarget.20764. eCollection 2017 Nov 10.
4
Lymphangioleiomyomatosis Diagnosis and Management: High-Resolution Chest Computed Tomography, Transbronchial Lung Biopsy, and Pleural Disease Management. An Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guideline.淋巴管平滑肌瘤病的诊断与管理:高分辨率胸部计算机断层扫描、经支气管肺活检及胸膜疾病管理。美国胸科学会/日本呼吸学会官方临床实践指南。
Am J Respir Crit Care Med. 2017 Nov 15;196(10):1337-1348. doi: 10.1164/rccm.201709-1965ST.
5
Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors.可扩展的游离细胞 DNA 全外显子组测序与转移性肿瘤具有高度一致性。
Nat Commun. 2017 Nov 6;8(1):1324. doi: 10.1038/s41467-017-00965-y.
6
Apparent Sporadic Lymphangioleiomyomatosis in a Man as a Result of Extreme Mosaicism for a TSC2 Mutation.一名男性因TSC2突变高度嵌合而患明显散发性淋巴管平滑肌瘤病
Ann Am Thorac Soc. 2017 Jul;14(7):1227-1229. doi: 10.1513/AnnalsATS.201703-229LE.
7
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Ann Transl Med. 2017 Feb;5(3):46. doi: 10.21037/atm.2017.01.32.
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Hum Mol Genet. 2014 Apr 15;23(8):2023-9. doi: 10.1093/hmg/ddt597. Epub 2013 Nov 23.