PMC Articles for MedGen (Select 22518) - PMC

Lisa Lappe, Christoph Hertzberg, Susanne Knake, Markus Knuf, Felix von Podewils, Laurent M. Willems, Stjepana Kovac, Johann Philipp Zöllner, Matthias Sauter, Gerhard Kurlemann, Thomas Mayer, Astrid Bertsche, Klaus Marquard, Sascha Meyer, Hannah Schäfer, Charlotte Thiels, Bianca Zukunft, Susanne Schubert-Bast, Jens-Peter Reese, Felix Rosenow, Adam Strzelczyk

Neurol Res Pract. 2024; 6: 29. Published online 2024 May 30. doi: 10.1186/s42466-024-00323-6

PMCID:: PMC11138101

Abstract Article PDF–2.4M

Select item 111354414.

Tuberous sclerosis complex combined with primary lymphedema: A case report

Xing-Peng Li, Xiao-Li Sun, Xin Liu, Zhe Wen, Li-Hua Jiang, Yan Fu, Yun-Long Yue, Ren-Gui Wang

World J Clin Cases. 2024 May 26; 12(15): 2642–2648. Published online 2024 May 26. doi: 10.12998/wjcc.v12.i15.2642

PMCID:: PMC11135441

Abstract Article PDF–3.0M

Select item 111294765.

Malignant tumors in tuberous sclerosis complex: a case report and review of the literature

Cassie Liu, Subodh M. Lele, Martin H. Goodenberger, Gwendolyn M. Reiser, Andrew J. Christiansen, James C. Padussis

BMC Med Genomics. 2024; 17: 144. Published online 2024 May 27. doi: 10.1186/s12920-024-01913-8

PMCID:: PMC11129476

Abstract Article PDF–1.5M

Select item 111220776.

Prevalence of Liver Steatosis in Tuberous Sclerosis Complex Patients: A Retrospective Cross-Sectional Study

Thaïs De Bock, Carola Brussaard, Silke François, Karlien François, Laura Seynaeve, Anna Jansen, Karl Martin Wissing, Peter Janssens

J Clin Med. 2024 May; 13(10): 2888. Published online 2024 May 14. doi: 10.3390/jcm13102888

PMCID:: PMC11122077

Abstract Article PDF–817K

Select item 111127847.

Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit

Jacquelyn A. Brown, Shannon L. Faley, Monika Judge, Patricia Ward, Rebecca A. Ihrie, Robert Carson, Laura Armstrong, Mustafa Sahin, John P. Wikswo, Kevin C. Ess, M. Diana Neely

J Neurodev Disord. 2024; 16: 27. Published online 2024 May 23. doi: 10.1186/s11689-024-09543-y

PMCID:: PMC11112784

Abstract Article PDF–3.2M

Select item 111002578.

Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements

Joyce Teng, Edward W. Cowen, Mari Wataya-Kaneda, Elizabeth S. Gosnell, Patricia M. Witman, Adelaide A. Hebert, Greg Mlynarczyk, Keyoumars Soltani, Thomas N. Darling

JAMA Dermatol. Author manuscript; available in PMC 2024 May 17.

Published in final edited form as: JAMA Dermatol. 2014 Oct; 150(10): 1095–1101. doi: 10.1001/jamadermatol.2014.938

PMCID:: PMC11100257

Abstract Article PDF–977K

Select item 110989209.

Nutritional status as a predictive factor for paediatric tuberous sclerosis complex-associated kidney angiomyolipomas: a retrospective analysis

Andrew Limavady, Matko Marlais

Eur J Pediatr. 2024; 183(6): 2563–2570. Published online 2024 Mar 14. doi: 10.1007/s00431-024-05520-8

PMCID:: PMC11098920

Abstract Article PDF–782K

Select item 1107641210.

Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex

Mirte Scheper, Frederik N. F. Sørensen, Gabriele Ruffolo, Alessandro Gaeta, Lilian J. Lissner, Jasper J. Anink, Irina Korshunova, Floor E. Jansen, Kate Riney, Wim van Hecke, Angelika Mühlebner, Konstantin Khodosevich, Dirk Schubert, Eleonora Palma, James D. Mills, Eleonora Aronica

Acta Neuropathol. 2024; 147(1): 80. Published online 2024 May 7. doi: 10.1007/s00401-024-02737-7

PMCID:: PMC11076412

Abstract Article PDF–11M

Select item 1107559411.

Presentation and diagnosis of neonatal tuberous sclerosis complex: A case report and literature review

Susmin Karki, Pramish Bhatta, Asmita Parajuli, Khusbu Kumari, Divas Rijal, Kayleigh Anjali Harrylal, Shristi Gautam, Arun Kumar Sharma

SAGE Open Med Case Rep. 2024; 12: 2050313X241252342. Published online 2024 May 6. doi: 10.1177/2050313X241252342

PMCID:: PMC11075594

Abstract Article PDF–890K

Select item 1107387612.

A Novel TSC2 c.2489T>C Missense Variant Associated With Tuberous Sclerosis Complex: Case Report

Yujie Lai, Yuanye Ma, Biao Luo, Yan Long

Neurol Genet. 2024 Apr; 10(2): e200127. Published online 2024 Feb 16. doi: 10.1212/NXG.0000000000200127

PMCID:: PMC11073876

Abstract Article PDF–205K

Select item 1106276513.

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

Keval Thakkar, Fnu Raveena, Aakash Kumar, Doongro Mal, Dileep Kumar, Neha Ahuja, Rahul Mandhan, Aqsa Baig, Manjeet Singh, Heeya Shah, Taha Sajjad, Mansi Singh

Case Rep Neurol Med. 2024; 2024: 5559615. Published online 2024 Apr 24. doi: 10.1155/2024/5559615

PMCID:: PMC11062765

Abstract Article PDF–2.1M

Select item 1105563614.

Fracture or Not: An Easily Mistaken Benign Finding in a Tuberous Sclerosis Patient

Sana Padival, Tyler P Montgomery, Alan E Oestreich, James Banks

Cureus. 2024 Mar; 16(3): e57142. Published online 2024 Mar 28. doi: 10.7759/cureus.57142

PMCID:: PMC11055636

Abstract Article PDF–463K

Select item 1100299015.

Tuberous sclerosis complex associated lymphangioleiomyomatosis caused by de novo mutation of TSC2 gene in Vietnam: A case report

Dinh Van Luong, Le Ngoc Huy, Nguyen Xuan Giang, Nguyen Huu Hong Thu, Nguyen Hai Ha, Nguyen Huy Binh

Respirol Case Rep. 2024 Apr; 12(4): e01346. Published online 2024 Apr 9. doi: 10.1002/rcr2.1346

PMCID:: PMC11002990

Abstract Article PDF–37M

Select item 1100161616.

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

Abstract Article PDF–1.9M

Select item 1099099717.

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

Abstract Article PDF–812K

Select item 1099038818.

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

Abstract Article PDF–397K

Select item 1098211519.

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

Abstract Article PDF–1.2M

Select item 1097028120.

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

Abstract Article PDF–373K

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