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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Counseling and TSC2[original query]
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
Advances in the diagnosis of hereditary kidney cancer: Initial results of a multigene panel test.
Cancer 2017 Nov 123 (22): 4363-4371.
Nguyen Kevin A, Syed Jamil S, Espenschied Carin R, LaDuca Holly, Bhagat Ansh M, Suarez-Sarmiento Alfredo, O'Rourke Timothy K, Brierley Karina L, Hofstatter Erin W, Shuch Bri
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
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
Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex-associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion Syndrome.
European urology 2021 12 81 (3): 229-233.
Gupta Sounak, Lohse Christine M, Rowsey Ross, McCarthy Michael R, Shen Wei, Herrera-Hernandez Loren, Boorjian Stephen A, Houston Thompson R, Jimenez Rafael E, Leibovich Bradley C, Cheville John
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing.
Epilepsy research 2023 1 190 107094.
Duc Nguyen Minh, Thu Nguyen Thuy Minh, Bui Chi-Bao, Hoa Giang, Le Trung Hieu Nguy
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,
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