243 related articles for article (PubMed ID: 37141891)
1. 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]
2. 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]
3. Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.
Treichel AM; Hamieh L; Nathan NR; Tyburczy ME; Wang JA; Oyerinde O; Raiciulescu S; Julien-Williams P; Jones AM; Gopalakrishnan V; Moss J; Kwiatkowski DJ; Darling TN
Genet Med; 2019 Nov; 21(11):2594-2604. PubMed ID: 31114024
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.
Klonowska K; Thiele EA; Grevelink JM; Thorner AR; Kwiatkowski DJ
J Med Genet; 2022 Sep; 59(9):920-923. PubMed ID: 34635572
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
Ng SY; Luk HM; Hau EW; Cheng SS; Yu KP; Ho S; Mok MT; Lo IF
Eur J Med Genet; 2022 Oct; 65(10):104573. PubMed ID: 35918040
[TBL] [Abstract][Full Text] [Related]
9. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL; Jozwiak S; Franz DN; Roberts PS; Nieto A; Chung J; Choy YS; Reeve MP; Thiele E; Egelhoff JC; Kasprzyk-Obara J; Domanska-Pakiela D; Kwiatkowski DJ
Am J Hum Genet; 2001 Jan; 68(1):64-80. PubMed ID: 11112665
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Biallelic TSC gene inactivation in tuberous sclerosis complex.
Crino PB; Aronica E; Baltuch G; Nathanson KL
Neurology; 2010 May; 74(21):1716-23. PubMed ID: 20498439
[TBL] [Abstract][Full Text] [Related]
13.
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]
14. 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]
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. 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]
17. 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.
Ryu SW; Yoon JH; Kim DW; Han B; Han H; Han J; Lee H; Seo GH; Lee BH
Mol Genet Genomic Med; 2024 Mar; 12(3):e2330. PubMed ID: 38265426
[TBL] [Abstract][Full Text] [Related]
18. Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.
Togi S; Ura H; Hatanaka H; Niida Y
Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232477
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Evidence for population variation in TSC1 and TSC2 gene expression.
Jentarra GM; Rice SG; Olfers S; Saffen D; Narayanan V
BMC Med Genet; 2011 Feb; 12():29. PubMed ID: 21345208
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
