133 related articles for article (PubMed ID: 37356622)
1. An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.
Blasco-Pérez L; Iranzo-Nuez L; López-Ortega R; Martínez-Cruz D; Camprodon-Gómez M; Tenés A; Antolín M; Tizzano EF; García-Arumí E
J Mol Diagn; 2023 Sep; 25(9):692-701. PubMed ID: 37356622
[TBL] [Abstract][Full Text] [Related]
2. Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.
Wang S; Sun H; Wang J; Gu X; Han L; Wu Y; Yan H; Han L; Zhang H; He Y
Mol Genet Genomic Med; 2021 Oct; 9(10):e1802. PubMed ID: 34480426
[TBL] [Abstract][Full Text] [Related]
3. Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
Manzanilla-Romero HH; Weis D; Schnaiter S; Rudnik-Schöneborn S
Am J Med Genet A; 2021 Dec; 185(12):3851-3858. PubMed ID: 34328706
[TBL] [Abstract][Full Text] [Related]
4. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska K; Giannikou K; Grevelink JM; Boeszoermenyi B; Thorner AR; Herbert ZT; Afrin A; Treichel AM; Hamieh L; Kotulska K; Jozwiak S; Moss J; Darling TN; Kwiatkowski DJ
Am J Hum Genet; 2023 Jun; 110(6):979-988. PubMed ID: 37141891
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Ogórek B; Hamieh L; Hulshof HM; Lasseter K; Klonowska K; Kuijf H; Moavero R; Hertzberg C; Weschke B; Riney K; Feucht M; Scholl T; Krsek P; Nabbout R; Jansen AC; Benova B; Aronica E; Lagae L; Curatolo P; Borkowska J; Sadowski K; Domańska-Pakieła D; Janson S; Kozlowski P; Urbanska M; Jaworski J; Jozwiak S; Jansen FE; Kotulska K; ; Kwiatkowski DJ
Genet Med; 2020 Sep; 22(9):1489-1497. PubMed ID: 32461669
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.
Meng Y; Yu C; Chen M; Yu X; Sun M; Yan H; Zhao W; Yu S
J Hum Genet; 2021 Mar; 66(3):227-236. PubMed ID: 32917966
[TBL] [Abstract][Full Text] [Related]
9. Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Ye Z; Lin S; Zhao X; Bennett MF; Brown NJ; Wallis M; Gao X; Sun L; Wu J; Vedururu R; Witkowski T; Gardiner F; Stutterd C; Duan J; Mullen SA; McGillivray G; Bodek S; Valente G; Reagan M; Yao Y; Li L; Chen L; Boys A; Adikari TN; Cao D; Hu Z; Beshay V; Zhang VW; Berkovic SF; Scheffer IE; Liao J; Hildebrand MS
Hum Mutat; 2022 Dec; 43(12):1956-1969. PubMed ID: 36030538
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
Lin S; Zeng JB; Zhao GX; Yang ZZ; Huang HP; Lin MT; Wu ZY; Wang N; Chen WJ; Fang L
Seizure; 2019 Oct; 71():322-327. PubMed ID: 31525612
[TBL] [Abstract][Full Text] [Related]
12. Minimal mosaicism, maximal phenotype: Discordance between clinical and molecular findings in two patients with tuberous sclerosis.
Byers HM; Jensen DM; Glass IA; Bennett JT
Am J Med Genet C Semin Med Genet; 2018 Sep; 178(3):374-378. PubMed ID: 30260069
[TBL] [Abstract][Full Text] [Related]
13. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Giannikou K; Lasseter KD; Grevelink JM; Tyburczy ME; Dies KA; Zhu Z; Hamieh L; Wollison BM; Thorner AR; Ruoss SJ; Thiele EA; Sahin M; Kwiatkowski DJ
Genet Med; 2019 Nov; 21(11):2639-2643. PubMed ID: 31160751
[TBL] [Abstract][Full Text] [Related]
14.
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]
15. Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Avgeris S; Fostira F; Vagena A; Ninios Y; Delimitsou A; Vodicka R; Vrtel R; Youroukos S; Stravopodis DJ; Vlassi M; Astrinidis A; Yannoukakos D; Voutsinas GE
Sci Rep; 2017 Dec; 7(1):16697. PubMed ID: 29196670
[TBL] [Abstract][Full Text] [Related]
16. [Genetic screening and prenatal diagnosis in high-risk families with tuberous sclerosis complex syndrome].
Lin R; Zhao Z; Liu L; Wang C; Chen C; Liu N; Meng J; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May; 38(5):435-438. PubMed ID: 33974250
[TBL] [Abstract][Full Text] [Related]
17. Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron A; Au KS; Northrup H
Am J Med Genet C Semin Med Genet; 2018 Sep; 178(3):281-290. PubMed ID: 30255984
[TBL] [Abstract][Full Text] [Related]
18. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
Qin W; Kozlowski P; Taillon BE; Bouffard P; Holmes AJ; Janne P; Camposano S; Thiele E; Franz D; Kwiatkowski DJ
Hum Genet; 2010 Mar; 127(5):573-82. PubMed ID: 20165957
[TBL] [Abstract][Full Text] [Related]
19. First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME; Hernández-Martínez NL; Alcántara-Ortigoza MA; Ayala-Sumuano JT; Enríquez-Flores S; Velázquez-Aragón JA; Varela-Echavarría A; Todd-Quiñones CG; González-Del Angel A
Sci Rep; 2020 Apr; 10(1):6589. PubMed ID: 32313033
[TBL] [Abstract][Full Text] [Related]
20. A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.
Bąbol-Pokora K; Bielska M; Bobeff K; Jatczak-Pawlik I; Borkowska J; Kotulska K; Jóźwiak S; Młynarski W; Trelińska J
Eur J Med Genet; 2021 Oct; 64(10):104309. PubMed ID: 34403804
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]