113 related articles for article (PubMed ID: 36572026)
1. A novel mutation in the TSC2 gene protects against colorectal cancer in the Mexican population.
González-Villaseñor CO; Ramírez-Guerrero AA; Moreno-Ortiz JM; Leal-Ugarte E; Peralta-Leal V; Macías-Gómez NM
Gac Med Mex; 2022; 158(5):283-288. PubMed ID: 36572026
[TBL] [Abstract][Full Text] [Related]
2. [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation].
Liu W; Li F; He Z; Ai R
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):68-71. PubMed ID: 34964971
[TBL] [Abstract][Full Text] [Related]
3.
He J; Zhou W; Shi J; Lin J; Zhang B; Sun Z
Genet Test Mol Biomarkers; 2020 Jan; 24(1):1-5. PubMed ID: 31855466
[No Abstract] [Full Text] [Related]
4. Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.
Demir S; Yalçıntepe S; Atlı E; Yalçın Y; İkbal Atlı E; Eker D; Karal Y; Gürkan H
Balkan Med J; 2021 Nov; 38(6):341-347. PubMed ID: 34860161
[TBL] [Abstract][Full Text] [Related]
5. Genetic analysis of 18 families with tuberous sclerosis complex.
Yin K; Lin N; Lu Q; Jin L; Huang Y; Zhou X; Xu K; Liu Q; Zhang X
Neurogenetics; 2022 Jul; 23(3):223-230. PubMed ID: 35596872
[TBL] [Abstract][Full Text] [Related]
6. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T; Nanhoe S; de Almeida LGD; Schönewolf-Greulich B; Larsen LJ; Hey CAB; Dunø M; Ek J; Risom L; Nellist M; Møller LB
Sci Rep; 2020 Jun; 10(1):9909. PubMed ID: 32555378
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report.
Zhang R; Wang J; Wang Q; Han Y; Liu X; Bottillo I; Lang Y; Shao L
BMC Med Genet; 2018 Sep; 19(1):173. PubMed ID: 30236073
[TBL] [Abstract][Full Text] [Related]
8. [A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].
Niu Y; Huang S; Xu P; Li J; Gao M; Chen X; Chu H; Gao Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):553-556. PubMed ID: 34096024
[TBL] [Abstract][Full Text] [Related]
9. TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant.
Reyna-Fabián ME; Alcántara-Ortigoza MA; Hernández-Martínez NL; Berumen J; Jiménez-García R; Gómez-Garza G; González-Del Angel A
Nefrologia (Engl Ed); 2020; 40(1):91-98. PubMed ID: 31176519
[TBL] [Abstract][Full Text] [Related]
10. Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).
van Bakel I; Sepp T; Ward S; Yates JR; Green AJ
Hum Mol Genet; 1997 Sep; 6(9):1409-14. PubMed ID: 9285776
[TBL] [Abstract][Full Text] [Related]
11. Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.
Gao S; Wang Z; Xie Y
Medicine (Baltimore); 2018 Jul; 97(29):e11533. PubMed ID: 30024541
[TBL] [Abstract][Full Text] [Related]
12. [Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex].
Liu L; Yu C; Yang H; Lu Q; Ouyang F; Liu T
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):877-879. PubMed ID: 34487535
[TBL] [Abstract][Full Text] [Related]
13. The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.
Robinson J; Uzun O; Loh NR; Harris IR; Woolley TE; Harwood AJ; Gardner JF; Syed YA
BMC Med; 2022 Apr; 20(1):123. PubMed ID: 35440050
[TBL] [Abstract][Full Text] [Related]
14. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.
Ismail NF; Nik Abdul Malik NM; Mohseni J; Rani AM; Hayati F; Salmi AR; Narazah MY; Zabidi-Hussin ZA; Silawati AR; Keng WT; Ngu LH; Sasongko TH
Jpn J Clin Oncol; 2014 May; 44(5):506-11. PubMed ID: 24683199
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
Jones AC; Shyamsundar MM; Thomas MW; Maynard J; Idziaszczyk S; Tomkins S; Sampson JR; Cheadle JP
Am J Hum Genet; 1999 May; 64(5):1305-15. PubMed ID: 10205261
[TBL] [Abstract][Full Text] [Related]
16. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
Au KS; Rodriguez JA; Finch JL; Volcik KA; Roach ES; Delgado MR; Rodriguez E; Northrup H
Am J Hum Genet; 1998 Feb; 62(2):286-94. PubMed ID: 9463313
[TBL] [Abstract][Full Text] [Related]
17. Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort.
Ding Y; Zhou Y; Yu L; Zhang L; Zhou S; Wang Y; Wang J
Seizure; 2021 Oct; 91():273-277. PubMed ID: 34252879
[TBL] [Abstract][Full Text] [Related]
18. A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex.
Li W; Zhou P; Zhao C; Zhang Y
J Neurogenet; 2016; 30(3-4):285-287. PubMed ID: 27776463
[TBL] [Abstract][Full Text] [Related]
19. A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
Abdelwahed M; Touraine R; Ben-Rhouma B; Dhieb D; Mars M; Kammoun K; Hachicha J; Triki C; Kamoun H; Keskes-Ammar L; Belguith N
IUBMB Life; 2019 Dec; 71(12):1937-1945. PubMed ID: 31317616
[TBL] [Abstract][Full Text] [Related]
20. [Analysis of clinical features and genetic variants in a Chinese pedigree affected with tuberous sclerosis].
Mi H; Chen Y; Qi S; Liu X; Li M; Shen Y; Liu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Apr; 38(4):363-365. PubMed ID: 33834466
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
