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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 30, 2023. (Total: 223474Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Lymphangioleiomyomatosis and TSC1[original query]
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
PLoS genetics 2016 Aug 12 (8): e1006242.
Giannikou Krinio, Malinowska Izabela A, Pugh Trevor J, Yan Rachel, Tseng Yuen-Yi, Oh Coyin, Kim Jaegil, Tyburczy Magdalena E, Chekaluk Yvonne, Liu Yang, Alesi Nicola, Finlay Geraldine A, Wu Chin-Lee, Signoretti Sabina, Meyerson Matthew, Getz Gad, Boehm Jesse S, Henske Elizabeth P, Kwiatkowski David
Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.
Journal of human genetics 2018 Feb .
Suspitsin Evgeny N, Yanus Grigoriy A, Dorofeeva Marina Yu, Ledashcheva Tatiana A, Nikitina Nataliya V, Buyanova Galina V, Saifullina Elena V, Sokolenko Anna P, Imyanitov Evgeny
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis. GWAS Catalog
The European respiratory journal 2019 Apr .
Kim Wonji, Giannikou Krinio, Dreier John R, Lee Sanghun, Tyburczy Magdalena E, Silverman Edwin K, Radzikowska El?bieta, Wu Shulin, Wu Chin-Lee, Henske Elizabeth P, Hunninghake Gary, Carel Havi, Roman Antonio, Pujana Miquel Angel, Moss Joel, Won Sungho, Kwiatkowski David
Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis.
Orphanet journal of rare diseases 2019 3 14 (1): 72.
Lamattina Anthony M, Poli Sergio, Kidambi Pranav, Bagwe Shefali, Courtwright Andrew, Louis Pierce H, Shrestha Shikshya, Stump Benjamin, Goldberg Hilary J, Thiele Elizabeth A, Rosas Ivan, Henske Elizabeth P, El-Chemaly Souhe
Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
PloS one 2019 12 14 (12): e0226400.
Liu Jie, Zhao Weiwei, Ou Xiaohua, Zhao Zhen, Hu Changming, Sun Mingming, Liu Feifei, Deng Junhao, Gu Weili, An Jiaying, Zhang Qingling, Zhang Xiaoxian, Xie Jiaxing, Li Shiyue, Chen Rongchang, Yu Shihui, Zhong Nansh
Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
Annals of the American Thoracic Society 2020 Nov .
Tian Xinlun, Glass Jennifer E, Kwiatkowski David J, Towbin Alexander J, Li Yinan, Sund Kristen L, Krueger Darcy A, Franz David N, McCormack Francis X, Gupta Nisha
Normalization of Enzyme Expression and Activity Regulating Vitamin A Metabolism Increases RAR-Beta Expression and Reduces Cellular Migration and Proliferation in Diseases Caused by Tuberous Sclerosis Gene Mutations.
Frontiers in oncology 2021 6 11 644592.
Abdelwahab Elhusseiny Mohamed Mahmoud, Bovari-Biri Judit, Smuk Gabor, Harko Tunde, Fillinger Janos, Moldvay Judit, Krymskaya Vera P, Pongracz Judit
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