Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Counseling and TSC1[original query] |
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| Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS genetics 2015 Nov 11 (11): e1005637. Tyburczy Magdalena E, Dies Kira A, Glass Jennifer, Camposano Susana, Chekaluk Yvonne, Thorner Aaron R, Lin Ling, Krueger Darcy, Franz David N, Thiele Elizabeth A, Sahin Mustafa, Kwiatkowski David |
| Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing. Medicine 2018 Apr 97 (15): e0112. Gu Xiaoyan, Han Ling, Chen Jian, Wang Jianbin, Hao Xiaoyan, Zhang Ye, Zhang Jun, Ge Shuping, He Yih |
| Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes. Seizure 2019 9 71 322-327. Lin Shan, Zeng Jia-Bin, Zhao Gui-Xian, Yang Zhen-Zhen, Huang Hui-Ping, Lin Min-Ting, Wu Zhi-Ying, Wang Ning, Chen Wan-Jin, Fang Li |
| Precise detection of low-level somatic mutation in resected epilepsy brain tissue. Acta neuropathologica 2019 Aug . Sim Nam Suk, Ko Ara, Kim Woo Kyeong, Kim Se Hoon, Kim Ju Seong, Shim Kyu-Won, Aronica Eleonora, Mijnsbergen Caroline, Spliet Wim G M, Koh Hyun Yong, Kim Heung Dong, Lee Joon Soo, Kim Dong Seok, Kang Hoon-Chul, Lee Jeong |
| Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. JNCI cancer spectrum 2021 7 5 (2): . Kim Jung, Gianferante Matthew, Karyadi Danielle M, Hartley Stephen W, Frone Megan N, Luo Wen, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Dean Michael, Yeager Meredith, Zhu Bin, Song Lei, Sampson Joshua N, Yasui Yutaka, Leisenring Wendy M, Brodie Seth A, de Andrade Kelvin C, Fortes Fernanda P, Goldstein Alisa M, Khincha Payal P, Machiela Mitchell J, McMaster Mary L, Nickerson Michael L, Oba Leatrisse, Pemov Alexander, Pinheiro Maisa, Rotunno Melissa, Santiago Karina, Wegman-Ostrosky Talia, Diver W Ryan, Teras Lauren, Freedman Neal D, Hicks Belynda D, Zhu Bin, Wang Mingyi, Jones Kristine, Hutchinson Amy A, Dagnall Casey, Savage Sharon A, Tucker Margaret A, Chanock Stephen J, Morton Lindsay M, Stewart Douglas R, Mirabello Li |
| The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort. Child neurology open 2021 5 8 2329048X211012817. Alsowat Daad, Whitney Robyn, Hewson Stacy, Jain Puneet, Chan Valerie, Kabir Nadia, Amburgey Kimberly, Noone Damien, Lemaire Mathieu, McCoy Blathnaid, Zak Mar |
| Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial. Pediatric neurology 2024 8 159 62-71. Laura S Farach, Melissa A Richard, Aynara C Wulsin, Elizabeth M Bebin, Darcy A Krueger, Mustafa Sahin, Brenda E Porter, Tarrant O McPherson, Jurriaan M Peters, Sarah O'Kelley, Katherine S Taub, Rajsekar Rajaraman, Stephanie C Randle, William M McClintock, Mary Kay Koenig, Michael D Frost, Klaus Werner, Danielle A Nolan, Michael Wong, Gary Cutter, Hope Northrup, Kit Sing Au, |
| Germline findings in cancer predisposing genes from a small cohort of chordoma patients. Journal of cancer research and clinical oncology 2024 5 150 (5): 227. Margarita Raygada, Liny John, Anne Liu, Julianne Schultz, B J Thomas, Donna Bernstein, Markku Miettinen, Mark Raffeld, Liqiang Xi, Manoj Tyagi, Kenneth Aldape, John Glod, Karlyne M Reilly, Brigitte C Widemann, Mary Frances Wedeki |
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