HuGE Literature Finder
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| 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 |
| 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 |
| 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 |
| 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 |
| Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis. PloS one 2016 11 (5): e0155331. Di Marco Fabiano, Terraneo Silvia, Imeri Gianluca, Palumbo Giuseppina, La Briola Francesca, Tresoldi Silvia, Volpi Angela, Gualandri Lorenzo, Ghelma Filippo, Alfano Rosa Maria, Montanari Emanuele, Gorio Alfredo, Lesma Elena, Peron Angela, Canevini Maria Paola, Centanni Stefa |
| 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 |
| Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology. Reproductive biomedicine online 2015 Sep . Giménez Carles, Sarasa Jonás, Arjona César, Vilamajó Ester, Martínez-Pasarell Olga, Wheeler Kenny, Valls Gemma, Garcia-Guixé Elena, Wells Dag |
| 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 |
| Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers. Orphanet journal of rare diseases 2015 10 154. Vignoli Aglaia, La Briola Francesca, Peron Angela, Turner Katherine, Vannicola Chiara, Saccani Monica, Magnaghi Elisabetta, Scornavacca Giulia Federica, Canevini Maria Pao |
| [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 |
| Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. Epilepsy research 2013 Jan 103 (1): 83-7. van Eeghen Agnies M, Nellist Mark, van Eeghen Elmer E, Thiele Elizabeth |
| 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 |
- Page last reviewed:Oct 1, 2021
- Page last updated:Jan 19, 2022
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