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Items: 1 to 20 of 27

1.
Ungual fibroma in 12-year-old boy with hypomelanotic macules, intellectual disability and attention deficit hyperactivity disorder—possible tuberous sclerosis
Nedeljka Glavan, Ivana Ljubičić-Bistrović, Blaženka Grahovac, Luka Traven, Anton Sasso, Nives Jonjić
SAGE Open Med Case Rep. 2016; 4: 2050313X16666233. Published online 2016 Aug 26. doi: 10.1177/2050313X16666233
PMCID:
PMC5006295
ArticlePDF–421K
2.
Juvenile xanthogranuloma as a new type of skin lesions in tuberous sclerosis complex
Qian Lu, Xiu-Yu Shi, Yang-Yang Wang, Meng-Na Zhang, Wen-Ze Wang, Jing Wang, Qiu-Hong Wang, Hui-Min Chen, Li-Ping Zou
Orphanet J Rare Dis. 2020; 15: 147. Published online 2020 Jun 12. doi: 10.1186/s13023-020-01396-7
PMCID:
PMC7291636
ArticlePDF–3.2M
3.
A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family
Feng Wang, Shiyi Xiong, Lin Wu, Maya Chopra, Xihong Hu, Bingbing Wu
BMC Med Genet. 2018; 19: 90. Published online 2018 May 30. doi: 10.1186/s12881-018-0611-z
PMCID:
PMC5975528
ArticlePDF–4.0M
4.
Beyond polycystic kidney disease
Susana Franco Santos, Telma Francisco, Ana Isabel Cordeiro, Maria João Paiva Lopes
BMJ Case Rep. 2017; 2017: bcr2017220766. Published online 2017 Oct 4. doi: 10.1136/bcr-2017-220766
PMCID:
PMC5652519
ArticlePDF–824K
5.
Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation
Juxiang Cao, Magdalena E. Tyburczy, Joel Moss, Thomas N. Darling, Hans R. Widlund, David J. Kwiatkowski
J Clin Invest. 2017 Jan 3; 127(1): 349–364. Published online 2016 Dec 5. doi: 10.1172/JCI84262
PMCID:
PMC5199706
ArticlePDF–4.3M
6.
Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex
Matthias Sauter, Lea Weber, Dominik Jung, Michael Weremko, Dorothea Bachmann, Michael Fischereder, Hagen Sjard Bachmann
Orphanet J Rare Dis. 2024; 19: 106. Published online 2024 Mar 8. doi: 10.1186/s13023-024-03118-9
PMCID:
PMC10921799
ArticlePDF–898K
7.
Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review
Qiaochu Sun, Jaeyoung Ryu, Young Kim
Diagn Pathol. 2024; 19: 50. Published online 2024 Mar 8. doi: 10.1186/s13000-024-01467-4
PMCID:
PMC10921606
ArticlePDF–2.3M
8.
Tuberous sclerosis complex: A clinical diagnosis in Ethiopian patients
Belete Sisay, Abilo Tadesse, Abebe Gelaw, Desalew Getahun, Biruk Mulat, Weynishet Kebede, Yonathan Gebrewold
Medicine (Baltimore) 2024 Feb 9; 103(6): e37135. Published online 2024 Feb 9. doi: 10.1097/MD.0000000000037135
PMCID:
PMC10860924
ArticlePDF–816K
9.
TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report
Shaofang Huang, Kangxiang Xu, Yuqi Xu, Lu Zhao, Xiaoju He
Front Med (Lausanne) 2023; 10: 1101079. Published online 2023 Feb 21. doi: 10.3389/fmed.2023.1101079
PMCID:
PMC9988899
ArticlePDF–5.2M
10.
Late Manifestation of Subependymal Giant Cell Astrocytoma With Hydrocephalus in an Adult Patient With Tuberous Sclerosis Complex
Sarah Zaher Addeen, Lilyan Bou Yehia, Lubna Aburas, Mhd Firas Safadi
Cureus. 2022 Aug; 14(8): e28435. Published online 2022 Aug 26. doi: 10.7759/cureus.28435
PMCID:
PMC9509684
ArticlePDF–457K
11.
Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China
Xu Wang, Wenda Wang, Yang Zhao, Zhan Wang, Yushi Zhang
Front Med (Lausanne) 2022; 9: 840709. Published online 2022 May 27. doi: 10.3389/fmed.2022.840709
PMCID:
PMC9197381
ArticlePDF–1.3M
12.
Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama
Marine Cascarino, Stéphanie Leclerc-Mercier
Dermatopathology (Basel) 2021 Sep; 8(3): 236–252. Published online 2021 Jul 4. doi: 10.3390/dermatopathology8030029
PMCID:
PMC8293214
ArticlePDF–10M
13.
Folliculocystic and Collagen Hamartoma: A Subset of Fibrous Cephalic Plaque
Anita S Savell, Kyle Norton, Michael R Heaphy, Jr.
Cureus. 2021 May; 13(5): e14987. Published online 2021 May 12. doi: 10.7759/cureus.14987
PMCID:
PMC8195546
ArticlePDF–1.0M
14.
Cardiac Rhabdomyoma: A Surrogate Diagnosis of Tuberous Sclerosis Complex in a Newborn Baby: Case Report from Tikur Anbessa University Hospital
Moges Tamirat, Beyene Ayalew
Ethiop J Health Sci. 2020 Jul 1; 30(4): 639–642. doi: 10.4314/ejhs.v30i4.19
PMCID:
PMC8054458
ArticlePDF–1010K
15.
Safety and Efficacy of the Sirolimus Gel for TSC Patients With Facial Skin Lesions in a Long-Term, Open-Label, Extension, Uncontrolled Clinical Trial
Mari Wataya-Kaneda, Hiroshi Nagai, Yuuki Ohno, Hiroo Yokozeki, Yasuyuki Fujita, Hironori Niizeki, Kazue Yoshida, Masaaki Ogai, Yuichi Yoshida, Akihiko Asahina, Kazuyoshi Fukai, Chiharu Tateishi, Izumi Hamada, Tatsuro Takahata, Kenji Shimizu, Shigeki Shimasaki, Hiroyuki Murota
Dermatol Ther (Heidelb) 2020 Aug; 10(4): 635–650. Published online 2020 May 8. doi: 10.1007/s13555-020-00387-7
PMCID:
PMC7367957
ArticlePDF–5.3M
16.
Tuberous sclerosis complex presenting as primary intestinal lymphangiectasia: A case report
Wen-Hao Lin, Zu-Han Zhang, Hong-Li Wang, Lu Ren, Lan-Lan Geng
World J Clin Cases. 2020 May 26; 8(10): 1995–2000. Published online 2020 May 26. doi: 10.12998/wjcc.v8.i10.1995
PMCID:
PMC7262713
ArticlePDF–4.5M
17.
Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study
Daniel Ebrahimi-Fakhari, Lilian Lisa Mann, Martin Poryo, Norbert Graf, Rüdiger von Kries, Beate Heinrich, Darius Ebrahimi-Fakhari, Marina Flotats-Bastardas, Ludwig Gortner, Michael Zemlin, Sascha Meyer
Orphanet J Rare Dis. 2018; 13: 117. Published online 2018 Jul 17. doi: 10.1186/s13023-018-0870-y
Correction in:
Orphanet J Rare Dis. 2019; 14: 106.
PMCID:
PMC6050673
ArticlePDF–837K
18.
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
Orphanet J Rare Dis. 2018; 13: 25. Published online 2018 Jan 29. doi: 10.1186/s13023-018-0764-z
PMCID:
PMC5789613
ArticlePDF–818K
19.
Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants
Peter E. Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M. Peters, Kit Sing Au, Hope Northrup, E. Martina Bebin, Joyce Y. Wu, Darcy Krueger, Mustafa Sahin, on behalf of the Tuberous Sclerosis Complex Autism Center of Excellence Research Network
Pediatrics. 2017 Dec; 140(6): e20164040. doi: 10.1542/peds.2016-4040
PMCID:
PMC5703775
ArticlePDF–942K
20.
TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
John C. Kingswood, Guillaume B. d’Augères, Elena Belousova, José C. Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J. de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson, Alfons Macaya, Rima Nabbout, Finbar O’Callaghan, Mirjana P. Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C. Jansen, on behalf of TOSCA consortium and TOSCA investigators
Orphanet J Rare Dis. 2017; 12: 2. Published online 2017 Jan 5. doi: 10.1186/s13023-016-0553-5
PMCID:
PMC5217262
ArticlePDF–1.6M

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