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229 results for Tuberous+Sclerosis+-+diagnosis

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Select record 21
ArticlesPeer ReviewedFull Text
Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study
Author / Creator:Fallah, Aria ; Rodgers, Shaun D. ; Weil, Alexander G. ; Vadera, Sumeet ; Mansouri, Alireza ; Connolly, Mary B. ; Major, Philippe ; Ma, Tracy ; Devinsky, Orrin ; Weiner, Howard L. ; Gonzalez-Martinez, Jorge A. ; Bingaman, William E. ; Najm, Imad ; Gupta, Ajay ; Ragheb, John ; Bhatia, Sanjiv ; Steinbok, Paul ; Witiw, Christopher D. ; Widjaja, Elysa ; Snead, O. Carter ; Rutka, James T.
Publisher:United States: Copyright by the Congress of Neurological Surgeons
Journal title:Neurosurgery, 2015-10, Vol.77 (4), p.517-524
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Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
Author / Creator:West, Hannah D. ; Nellist, Mark ; Brouwer, Rutger W. W. ; van den Hout-van Vroonhoven, Mirjam C. G. N. ; de Almeida, Luiz Gustavo Dufner ; Hendriks, Femke ; Elfferich, Peter ; Raja, Meera ; Giles, Peter ; Alfano, Rosa M. ; Peron, Angela ; Sznajer, Yves ; De Waele, Liesbeth ; Jansen, Anna ; Koopmans, Marije ; Kievit, Anneke ; Farach, Laura S. ; Northrup, Hope ; Sampson, Julian R. ; Thomas, Laura E. ; van IJcken, Wilfred F. J.
Publisher:United States: Hindawi
Journal title:Human mutation, 2023, Vol.2023, p.1-18
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International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
Author / Creator:de Vries, Petrus J. ; Heunis, Tosca-Marie ; Vanclooster, Stephanie ; Chambers, Nola ; Bissell, Stacey ; Byars, Anna W. ; Flinn, Jennifer ; Gipson, Tanjala T. ; van Eeghen, Agnies M. ; Waltereit, Robert ; Capal, Jamie K. ; Cukier, Sebastián ; Davis, Peter E. ; Smith, Catherine ; Kingswood, J. Chris ; Schoeters, Eva ; Srivastava, Shoba ; Takei, Megumi ; Gardner-Lubbe, Sugnet ; Kumm, Aubrey J. ; Krueger, Darcy A. ; Sahin, Mustafa ; De Waele, Liesbeth ; Jansen, Anna C.
Publisher:England: BioMed Central Ltd
Journal title:Journal of neurodevelopmental disorders, 2023-09, Vol.15 (1), p.32-20, Article 32
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Family reflections: tuberous sclerosis complex (TSC)
Author / Creator:Meitzler, Shelly
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2021-05, Vol.89 (6), p.1578-1579
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Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome
Author / Creator:Chan, Denise L. ; Kennedy, Sean E. ; Sarkozy, Vanessa E. ; Chung, Clara W. T. ; Flanagan, Danny ; Mowat, David ; Farrar, Michelle A. ; Lawson, John A.
Publisher:New York: Nature Publishing Group US
Journal title:Pediatric research, 2021-05, Vol.89 (6), p.1447-1451
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Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex
Author / Creator:Klonowska, Katarzyna ; Grevelink, Joannes M. ; Giannikou, Krinio ; Ogorek, Barbara A. ; Herbert, Zachary T. ; Thorner, Aaron R. ; Darling, Thomas N. ; Moss, Joel ; Kwiatkowski, David J.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2022-05, Vol.132 (10), p.1-16
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Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex
Author / Creator:Klonowska, Katarzyna ; Thiele, Elizabeth A ; Grevelink, Joannes M ; Thorner, Aaron R ; Kwiatkowski, David J
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-09, Vol.59 (9), p.920-923
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Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
Author / Creator:Müller, Annelieke R. ; Luijten, Michiel A. J. ; Haverman, Lotte ; de Ranitz-Greven, Wendela L. ; Janssens, Peter ; Rietman, André B. ; ten Hoopen, Leontine W. ; de Graaff, Laura C. G. ; de Wit, Marie-Claire ; Jansen, Anna C. ; Gipson, Tanjala ; Capal, Jamie K. ; de Vries, Petrus J. ; van Eeghen, Agnies M.
Publisher:England: BioMed Central Ltd
Journal title:BMC medicine, 2023-08, Vol.21 (1), p.298-298, Article 298
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ArticlesPeer ReviewedFull Text
Renal tumors in tuberous sclerosis complex
Author / Creator:Trnka, Peter ; Kennedy, Sean E.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2021-06, Vol.36 (6), p.1427-1438
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Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives
Author / Creator:Willems, Laurent M. ; Rosenow, Felix ; Schubert-Bast, Susanne ; Kurlemann, Gerhard ; Zöllner, Johann Philipp ; Bast, Thomas ; Bertsche, Astrid ; Bettendorf, Ulrich ; Ebrahimi-Fakhari, Daniel ; Grau, Janina ; Hahn, Andreas ; Hartmann, Hans ; Hertzberg, Christoph ; Hornemann, Frauke ; Immisch, Ilka ; Jacobs, Julia ; Klein, Karl Martin ; Klotz, Kerstin A. ; Kluger, Gerhard ; Knake, Susanne ; Knuf, Markus ; Marquard, Klaus ; Mayer, Thomas ; Meyer, Sascha ; Muhle, Hiltrud ; Müller-Schlüter, Karen ; von Podewils, Felix ; Ruf, Susanne ; Sauter, Matthias ; Schäfer, Hannah ; Schlump, Jan-Ulrich ; Syrbe, Steffen ; Thiels, Charlotte ; Trollmann, Regina ; Wiemer-Kruel, Adelheid ; Wilken, Bernd ; Zukunft, Bianca ; Strzelczyk, Adam
Publisher:Cham: Springer International Publishing
Journal title:CNS drugs, 2021-10, Vol.35 (10), p.1107-1122
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A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma
Author / Creator:Wang, Zhan ; Liu, Xiaoyan ; Wang, Wenda ; Wei, Jing ; Seery, Samuel ; Xu, Jiyu ; Sun, Haidan ; Yu, Yuncui ; Zhao, Yang ; Wang, Xu ; Liao, Zhangcheng ; Li, Yanan ; Sun, Wei ; Jia, Lulu ; Zhang, Yushi
Publisher:Athens: Spandidos Publications
Journal title:International journal of oncology, 2022-11, Vol.61 (5), p.1, Article 132
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Select record 32
ArticlesPeer ReviewedFull Text
Diagnostic Journey for Tuberous Sclerosis Complex—Interviews From a Clinical Trial
Author / Creator:Hyde, Carly ; Shurtz, Logan ; McDonald, Nicole ; Pizzano, Maria ; Nelson, Charles A. ; Thiele, Elizabeth A. ; Kasari, Connie ; Jeste, Shafali
Publisher:United States: American Association of Intellectual & Developmental Disabilities
Journal title:American journal on intellectual and developmental disabilities, 2025-01, Vol.130 (1), p.63-75
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Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
Author / Creator:Bozhilova, Natali ; Welham, Alice ; Adams, Dawn ; Bissell, Stacey ; Bruining, Hilgo ; Crawford, Hayley ; Eden, Kate ; Nelson, Lisa ; Oliver, Christopher ; Powis, Laurie ; Richards, Caroline ; Waite, Jane ; Watson, Peter ; Rhys, Hefin ; Wilde, Lucy ; Woodcock, Kate ; Moss, Joanna
Publisher:England: BioMed Central Ltd
Journal title:Molecular autism, 2023-01, Vol.14 (1), p.3-14, Article 3
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TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex
Author / Creator:Kingswood, John C ; Bruzzi, Paolo ; Curatolo, Paolo ; de Vries, Petrus J ; Fladrowski, Carla ; Hertzberg, Christoph ; Jansen, Anna C ; Jozwiak, Sergiusz ; Nabbout, Rima ; Sauter, Matthias ; Touraine, Renaud ; O’Callaghan, Finbar ; Zonnenberg, Bernard ; Crippa, Stefania ; Comis, Silvia ; d’Augères, Guillaume Beaure ; Belousova, Elena ; Carter, Tom ; Cottin, Vincent ; Dahlin, Maria ; Ferreira, José Carlos ; Macaya, Alfons ; Benedik, Mirjana Perkovic ; Sander, Valentin ; Youroukos, Sotirios ; Castellana, Ramon ; Ulker, Bulent ; Feucht, Martha
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.182-182, Article 182
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Neuropsychiatric manifestations of tuberous sclerosis in a young man in a psychiatric hospital in Botswana: a case report
Author / Creator:Chabalala, Wame T. ; Bojosi, Kagiso ; Maphane, Tseleng ; Olashore, Anthony A.
Publisher:London, England: SAGE Publications
Journal title:Journal of international medical research, 2024-01, Vol.52 (1), p.3000605231223450
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Comparative study on genomic and epigenomic profiles of retinoblastoma or tuberous sclerosis complex via nanopore sequencing and a joint screening framework
Author / Creator:Wang, Junting ; Zhang, Chengyue ; Zhang, Li ; Yao, Hong-juan ; Liu, Xiaohong ; Shi, Yuchen ; Zhao, Junyang ; Bo, Xiaochen ; Chen, Hebing ; Li, Liang
Publisher:New York: Nature Publishing Group US
Journal title:Cancer gene therapy, 2024-03, Vol.31 (3), p.439-453
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The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions
Author / Creator:Man, Alice ; Di Scipio, Matteo ; Grewal, Shan ; Suk, Yujin ; Trinari, Elisabetta ; Ejaz, Resham ; Whitney, Robyn
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-03, Vol.15 (3), p.332
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Select record 38
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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers
Author / Creator:Vignoli, Aglaia ; La Briola, Francesca ; Peron, Angela ; Turner, Katherine ; Vannicola, Chiara ; Saccani, Monica ; Magnaghi, Elisabetta ; Scornavacca, Giulia Federica ; Canevini, Maria Paola
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-12, Vol.10 (1), p.154-154, Article 154
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Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role
Author / Creator:Cardis, Michael A ; DeKlotz, Cynthia Marie Carver
Publisher:England: BMJ Publishing Group Ltd
Journal title:Archives of disease in childhood, 2017-09, Vol.102 (9), p.858-863
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The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1
Author / Creator:Cervi, Francesca ; Saletti, Veronica ; Turner, Katherine ; Peron, Angela ; Bulgheroni, Sara ; Taddei, Matilde ; La Briola, Francesca ; Canevini, Maria Paola ; Vignoli, Aglaia
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.237-237, Article 237
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Showing 21 to 40 of 229 results

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Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study

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Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

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International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

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Family reflections: tuberous sclerosis complex (TSC)

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Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome

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Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex

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Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex

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Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM

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Renal tumors in tuberous sclerosis complex

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Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives

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A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma

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Diagnostic Journey for Tuberous Sclerosis Complex—Interviews From a Clinical Trial

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Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach

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TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

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Neuropsychiatric manifestations of tuberous sclerosis in a young man in a psychiatric hospital in Botswana: a case report

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Comparative study on genomic and epigenomic profiles of retinoblastoma or tuberous sclerosis complex via nanopore sequencing and a joint screening framework

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The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions

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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

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Cutaneous manifestations of tuberous sclerosis complex and the paediatrician's role

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The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

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