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Select item 110016161.

Challenges of siblings with tuberous sclerosis showing various manifestations and severe complications

Utami Purbasari, Nurhayati Adnan Prihartono, N Helda, Fatira Ratri Audita, Bobby S Dharmawan

Radiol Case Rep. 2024 Jun; 19(6): 2566–2573. Published online 2024 Apr 5. doi: 10.1016/j.radcr.2024.03.002

PMCID:: PMC11001616

Article PDF–1.9M

Select item 109909972.

Inhibition of p70 Ribosomal S6 Kinase (S6K1) Reduces Cortical Blood Flow in a Rat Model of Autism-Tuberous Sclerosis

Oak Z. Chi, Xia Liu, Harvey Fortus, Guy Werlen, Estela Jacinto, Harvey R. Weiss

Neuromolecular Med. 2024; 26(1): 10. Published online 2024 Apr 4. doi: 10.1007/s12017-024-08780-7

PMCID:: PMC10990997

Article PDF–812K

Select item 109903883.

Congenital single kidney in tuberous sclerosis complex (Bourneville disease)

Wafaa Bzeih, Mohammad Kbar, Oussama Rihan

Ann Med Surg (Lond) 2024 Apr; 86(4): 2158–2161. Published online 2024 Feb 20. doi: 10.1097/MS9.0000000000001834

PMCID:: PMC10990388

Article PDF–397K

Select item 109821154.

Saccular abdominal aortic aneurysm in adolescence with tuberous sclerosis

Takumi Umibe, Hironobu Nishiori, Shintaro Koizumi, Hiroki Ikeuchi, Goro Matsumiya

Clin Case Rep. 2024 Apr; 12(4): e8715. Published online 2024 Mar 31. doi: 10.1002/ccr3.8715

PMCID:: PMC10982115

Article PDF–1.2M

Select item 109702815.

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

Alice Man, Matteo Di Scipio, Shan Grewal, Yujin Suk, Elisabetta Trinari, Resham Ejaz, Robyn Whitney

Genes (Basel) 2024 Mar; 15(3): 332. Published online 2024 Mar 4. doi: 10.3390/genes15030332

PMCID:: PMC10970281

Article PDF–373K

Select item 109685306.

Contractile and Genetic Characterization of Cardiac Constructs Engineered from Human Induced Pluripotent Stem Cells: Modeling of Tuberous Sclerosis Complex and the Effects of Rapamycin

Veniamin Y. Sidorov, Tatiana N. Sidorova, Philip C. Samson, Ronald S. Reiserer, Clayton M. Britt, M. Diana Neely, Kevin C. Ess, John P. Wikswo

Bioengineering (Basel) 2024 Mar; 11(3): 234. Published online 2024 Feb 28. doi: 10.3390/bioengineering11030234

PMCID:: PMC10968530

Article PDF–8.9M

Select item 109671277.

Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit

Jan Johnson, Wendy Somerfield, Simon R. Johnson

Orphanet J Rare Dis. 2024; 19: 137. Published online 2024 Mar 26. doi: 10.1186/s13023-024-03115-y

PMCID:: PMC10967127

Article PDF–1007K

Select item 109666358.

Tuberous Sclerosis Complex as a Social Determinant of Health, Alongside Its Psychiatric Comorbidities: A Case Report

Hitesh P Rai, Cameron Sandefur

Cureus. 2024 Feb; 16(2): e54956. Published online 2024 Feb 26. doi: 10.7759/cureus.54956

PMCID:: PMC10966635

Article PDF–820K

Select item 109586379.

A Woman with Bilateral Pheochromocytoma and Tuberous Sclerosis Complex

Maleeha Zahid, Shalini Koshy, Jawairia Shakil, Helmi S. Khadra, Luan D. Truong, Archana R. Sadhu

AACE Clin Case Rep. 2024 Mar-Apr; 10(2): 41–44. Published online 2023 Dec 8. doi: 10.1016/j.aace.2023.12.001

PMCID:: PMC10958637

Article PDF–2.2M

Select item 1095817510.

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

Seung Woo Ryu, Ji‐Hee Yoon, Dong‐wook Kim, Beomman Han, Heonjong Han, Joohyun Han, Hane Lee, Go Hun Seo, Beom Hee Lee

Mol Genet Genomic Med. 2024 Mar; 12(3): e2330. Published online 2024 Jan 24. doi: 10.1002/mgg3.2330

PMCID:: PMC10958175

Article PDF–1.4M

Select item 1095287411.

Determining the neurocognitive profile of children with tuberous sclerosis complex within the Western Cape region of South Africa

N. M. Berghoff, J. M. Wilmshurst, T. A. Page, M. Wessels, B. Schlegel, S. Malcolm‐Smith

J Intellect Disabil Res. 2023 May; 67(5): 427–446. Published online 2023 Feb 14. doi: 10.1111/jir.13009

PMCID:: PMC10952874

Article PDF–412K

Select item 1093028712.

1例以皮肤损害为首发症状的结节性硬化症并多学科讨论

邓思涵, 施为, 蔡燚, 唐勇军, 刘卫平, 尹乒, 陈晨, 孟莉, 董慧茜, 黄俊栋, 刘煜

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 28; 47(7): 973–980. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210452

PMCID:: PMC10930287

Article PDF–1.1M

Select item 1092179913.

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

Article PDF–898K

Select item 1092160614.

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

Article PDF–2.3M

Select item 1091915015.

Case Report: Tuberous sclerosis complex-associated hemihypertrophy successfully treated with mTOR inhibitor sirolimus

Konomi Shimoda, Hiroyuki Iwasaki, Yoko Mizuno, Masafumi Seki, Masakazu Mimaki, Motohiro Kato, Aya Shinozaki-Ushiku, Harushi Mori, Seishi Ogawa, Masashi Mizuguchi

Front Pediatr. 2024; 12: 1333064. Published online 2024 Feb 21. doi: 10.3389/fped.2024.1333064

PMCID:: PMC10919150

Article PDF–4.5M

Select item 1091279116.

Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex

Linli Liu, Yanbo Wang, Zhengzhong Zhang, Chunshui Yu, Jin Chen

Mol Genet Genomic Med. 2024 Mar; 12(3): e2403. Published online 2024 Mar 4. doi: 10.1002/mgg3.2403

PMCID:: PMC10912791

Article PDF–2.8M

Select item 1091034417.

Clinical, tomographic and functional comparison of sporadic and tuberous sclerosis complex-associated forms of lymphangioleiomyomatosis: a retrospective cohort study

Martina Rodrigues Oliveira, Mark Wanderley, Carolina Salim Gonçalves Freitas, Ronaldo Adib Kairalla, Rodrigo Caruso Chate, Alexandre Franco Amaral, Fabio Eiji Arimura, Luciana Paula Samorano, Elieser Hitoshi Watanabe, Carlos Roberto Ribeiro Carvalho, Bruno Guedes Baldi

ERJ Open Res. 2024 Mar; 10(2): 00759-2023. Published online 2024 Mar 4. doi: 10.1183/23120541.00759-2023

PMCID:: PMC10910344

Article PDF–669K

Select item 1090192718.

Astroglial calcium signaling and homeostasis in tuberous sclerosis complex

Alessia Romagnolo, Giulia Dematteis, Mirte Scheper, Mark J. Luinenburg, Angelika Mühlebner, Wim Van Hecke, Marcello Manfredi, Veronica De Giorgis, Simone Reano, Nicoletta Filigheddu, Valeria Bortolotto, Laura Tapella, Jasper J. Anink, Liesbeth François, Stefanie Dedeurwaerdere, James D. Mills, Armando A. Genazzani, Dmitry Lim, Eleonora Aronica

Acta Neuropathol. 2024; 147(1): 48. Published online 2024 Feb 28. doi: 10.1007/s00401-024-02711-3