PubMed for id: 348170

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Results by year

Year	Number of Results
1980	1
1990	1
1993	1
1994	10
1995	24
1996	22
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1998	34
1999	29
2000	31
2001	48
2002	45
2003	55
2004	56
2005	59
2006	69
2007	63
2008	81
2009	90
2010	77
2011	88
2012	89
2013	102
2014	104
2015	104
2016	100
2017	117
2018	120
2019	114
2020	128
2021	135
2022	135
2023	113
2024	27

2,043 results

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Page 1

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

Man A, Di Scipio M, Grewal S, Suk Y, Trinari E, Ejaz R, Whitney R. Man A, et al. Genes (Basel). 2024 Mar 4;15(3):332. doi: 10.3390/genes15030332. Genes (Basel). 2024. PMID: 38540392 Free PMC article. Review.

Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.

Snyder HE, Jain P, RamachandranNair R, Jones KC, Whitney R. Snyder HE, et al. Genes (Basel). 2024 Feb 21;15(3):266. doi: 10.3390/genes15030266. Genes (Basel). 2024. PMID: 38540325 Free PMC article. Review.

Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.

Ferri L, Menghi V, Licchetta L, Dimartino P, Minardi R, Davì C, Di Vito L, Cifaldi E, Zenesini C, Gozzo F, Pelliccia V, Mariani V, de Spelorzi YCC, Gustincich S, Seri M, Tassi L, Pippucci T, Bisulli F. Ferri L, et al. Epilepsy Behav. 2024 Apr;153:109716. doi: 10.1016/j.yebeh.2024.109716. Epub 2024 Mar 19. Epilepsy Behav. 2024. PMID: 38508103

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

Liu L, Wang Y, Zhang Z, Yu C, Chen J. Liu L, et al. Mol Genet Genomic Med. 2024 Mar;12(3):e2403. doi: 10.1002/mgg3.2403. Mol Genet Genomic Med. 2024. PMID: 38439608 Free PMC article.

Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.

Licchetta L, Bruschi G, Stipa C, Belotti LMB, Ferri L, Mostacci B, Vignatelli L, Minardi R, Di Vito L, Muccioli L, Boni A, Tinuper P, Bisulli F. Licchetta L, et al. Epilepsy Behav. 2024 Apr;153:109688. doi: 10.1016/j.yebeh.2024.109688. Epub 2024 Feb 29. Epilepsy Behav. 2024. PMID: 38428171

A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.

Fu J, Liang P, Zheng Y, Xu C, Xiong F, Yang F. Fu J, et al. Gene. 2024 May 30;909:148312. doi: 10.1016/j.gene.2024.148312. Epub 2024 Feb 25. Gene. 2024. PMID: 38412945 Free article.

The importance of routine genetic testing in pediatric epilepsy surgery.

Becker LL, Makridis KL, Abad-Perez AT, Thomale UW, Tietze A, Elger CE, Horn D, Kaindl AM. Becker LL, et al. Epilepsia Open. 2024 Apr;9(2):800-807. doi: 10.1002/epi4.12916. Epub 2024 Feb 17. Epilepsia Open. 2024. PMID: 38366963 Free PMC article.

Conjunctival leiomyosarcoma: A clinico-pathological study with in deep molecular characterization.

Santoro A, Angelico G, Mulè A, Minucci A, Giannuzzi F, Sammarco MG, Pagliara MM, Blasi MA. Santoro A, et al. Pathol Res Pract. 2024 Mar;255:155182. doi: 10.1016/j.prp.2024.155182. Epub 2024 Feb 5. Pathol Res Pract. 2024. PMID: 38335782

A Systematic Review on the Genetic Contribution to Tinnitus.

Perez-Carpena P, Lopez-Escamez JA, Gallego-Martinez Á. Perez-Carpena P, et al. J Assoc Res Otolaryngol. 2024 Feb;25(1):13-33. doi: 10.1007/s10162-024-00925-6. Epub 2024 Feb 9. J Assoc Res Otolaryngol. 2024. PMID: 38334885 Free PMC article.

Chromosome 3p gene alterations as biomarkers for immunocombinations in metastatic renal cell carcinoma: A hypothesis-generating analysis.

Rosellini M, Mollica V, Marchetti A, Coluccelli S, Giunchi F, Tassinari E, Ricci C, Fiorentino M, Tallini G, De Biase D, Massari F. Rosellini M, et al. Pathol Res Pract. 2024 Feb;254:155142. doi: 10.1016/j.prp.2024.155142. Epub 2024 Jan 17. Pathol Res Pract. 2024. PMID: 38277752

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2,043 results

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