HuGE Literature Finder
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| Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex. Human genome variation 2022 2 9 (1): 5. Muto Yoshinari, Sasaki Hitomi, Sumitomo Makoto, Inagaki Hidehito, Kato Maki, Kato Takema, Miyai Shunsuke, Kurahashi Hiroki, Shiroki Ryoic |
| Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet journal of rare diseases 2021 Jul 16 (1): 301. Sauter Matthias, Belousova Elena, Benedik Mirjana P, Carter Tom, Cottin Vincent, Curatolo Paolo, Dahlin Maria, D'Amato Lisa, d'Augères Guillaume B, de Vries Petrus J, Ferreira José C, Feucht Martha, Fladrowski Carla, Hertzberg Christoph, Jozwiak Sergiusz, Lawson John A, Macaya Alfons, Marques Ruben, Nabbout Rima, O'Callaghan Finbar, Qin Jiong, Sander Valentin, Shah Seema, Takahashi Yukitoshi, Touraine Renaud, Youroukos Sotiris, Zonnenberg Bernard, Jansen Anna, Kingswood J Chris, |
| [Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Feb 38 (2): 154-157. Huang Chao, Zhang Qin, Xue Ying, Li Hong, Wang Ti |
| [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 12 39 (1): 68-71. Liu Weiliang, Li Fang, He Zhixu, Ai Ro |
| 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 |
| Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy. Scientific reports 2019 Oct 9 (1): 14337. Ni Jianxin, Yan Fengqi, Qin Weijun, Yu Lei, Zhang Geng, Liu Fei, Yang Xiaojian, Yang Bo, Hao Chunlin, Wang Teng, Liu Pengfei, Yuan Jianlin, Wu Guoj |
| Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex. Developmental medicine and child neurology 2019 Jul . Toldo Irene, Bugin Samuela, Perissinotto Egle, Pelizza Maria Federica, Vignoli Aglaia, Parazzini Cecilia, Canevini Maria Paola, Nosadini Margherita, Sartori Stefano, Manara Ren |
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.
The European respiratory journal 2019 Apr . Kim Wonji, Giannikou Krinio, Dreier John R, Lee Sanghun, Tyburczy Magdalena E, Silverman Edwin K, Radzikowska Elzbieta, Wu Shulin, Wu Chin-Lee, Henske Elizabeth P, Hunninghake Gary, Carel Havi, Roman Antonio, Pujana Miquel Angel, Moss Joel, Won Sungho, Kwiatkowski David |
| Survival prediction of tuberous sclerosis complex gene variant in patients with advanced non-small-cell lung cancer treated with platinum doublet. Bioscience reports 2019 Mar . Ryu Jeong-Seon, Lim Jun Hyeok, Kim Hyun-Jung, Kim Min Jeong, Park Mi Hwa, Kim Jung S |
| Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatric neurology 2019 Mar . Farach Laura S, Pearson Deborah A, Woodhouse John P, Schraw Jeremy M, Sahin Mustafa, Krueger Darcy A, Wu Joyce Y, Bebin Elizabeth M, Lupo Philip J, Au Kit Sing, Northrup Hope, |
| 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 |
| 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 |
| Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou Peng, He Na, Zhang Jing-Wen, Lin Zhi-Jian, Wang Jie, Yan Li-Min, Meng Heng, Tang Bin, Li Bing-Mei, Liu Xiao-Rong, Shi Yi-Wu, Zhai Qiong-Xiang, Yi Yong-Hong, Liao Wei-Pi |
| Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. Urology 2017 Jan . Cai Yi, Li Hanzhong, Zhang Yus |
| 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 |
| Genotype and brain pathology phenotype in children with tuberous sclerosis complex. European journal of human genetics : EJHG 2016 Jul . Overwater Iris E, Swenker Rob, van der Ende Emma L, Hanemaayer Kimberley Bm, Hoogeveen-Westerveld Marianne, van Eeghen Agnies M, Lequin Maarten H, van den Ouweland Ans Mw, Moll Henriëtte A, Nellist Mark, de Wit Marie-Claire |
| Do patients with tuberous sclerosis complex have an increased risk for malignancies? American journal of medical genetics. Part A 2016 Apr . Peron Angela, Vignoli Aglaia, La Briola Francesca, Volpi Angela, Montanari Emanuele, Morenghi Emanuela, Ghelma Filippo, Bulfamante Gaetano, Cefalo Graziella, Canevini Maria Pao |
| 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 |
| Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. European journal of human genetics : EJHG 2015 Mar . Kwiatkowski David J, Palmer Michael R, Jozwiak Sergiusz, Bissler John, Franz David, Segal Scott, Chen David, Sampson Julian |
| [Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype]. Anales de pediatría (Barcelona, Spain : 2003) 2014 Nov 81 (5): 289-96. Monteiro T, Garrido C, Pina S, Chorão R, Carrilho I, Figueiroa S, Santos M, Temudo |
| Severity of manifestations in tuberous sclerosis complex in relation to genotype. Epilepsia 2014 Jul 55 (7): 1025-9. Kothare Sanjeev V, Singh Kanwaljit, Chalifoux Jason R, Staley Brigid A, Weiner Howard L, Menzer Kimberly, Devinsky Orr |
| Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations. Molecular medicine reports 2013 Sep 8 (3): 909-13. Jó?wiak Jaros?aw, Sontowska Iwona, P?oski Raf |
| Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. Journal of human genetics 2013 Feb . Niida Y, Wakisaka A, Tsuji T, Yamada H, Kuroda M, Mitani Y, Okumura A, Yokoi A |
| Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Molecular autism 2013 4 (1): 5. Bahl Samira, Chiang Colby, Beauchamp Roberta L, Neale Benjamin M, Daly Mark J, Gusella James F, Talkowski Michael E, Ramesh Vija |
| Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings. Ophthalmology 2012 Sep 119 (9): 1917-23. Aronow Mary E, Nakagawa Jo Anne, Gupta Ajay, Traboulsi Elias I, Singh Arun |
| Subependymal nodules and giant cell tumours in tuberous sclerosis complex patients: prevalence on MRI in relation to gene mutation. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2012 Aug . Michelozzi C, Di Leo G, Galli F, Silva Barbosa F, Labriola F, Sardanelli F, Cornalba G |
| Genotype and cognitive phenotype of patients with tuberous sclerosis complex. European journal of human genetics : EJHG 2011 Dec . van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA |
| An Australian tuberous sclerosis cohort: are surveillance guidelines being met? Journal of paediatrics and child health 2011 Oct 47 (10): 711-6. Chopra Maya, Lawson John A, Wilson Meredith, Kennedy Sean E, Taylor Peter, Buckley Michael F, Wargon Orli, Parasivam Gayathri, Camphausen Christoph, Yates Deborah, Mowat Dav |
| A systematic study of gene mutations in urothelial carcinoma; inactivating mutations in TSC2 and PIK3R1. PloS one 2011 6 (4): e18583. Sjödahl Gottfrid, Lauss Martin, Gudjonsson Sigurdur, Liedberg Fredrik, Halldén Christer, Chebil Gunilla, Månsson Wiking, Höglund Mattias, Lindgren Dav |
| Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. Neurology 2009 Mar 72 (13): 1165-9. Chu-Shore Catherine J, Major Philippe, Montenegro Maria, Thiele Elizabe |
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- Page last updated:Feb 03, 2023
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