These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 28488386)

  • 1. Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study.
    Boronat S; Barber I; Thiele EA
    Am J Med Genet A; 2017 Jul; 173(7):1891-1895. PubMed ID: 28488386
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
    Peron A; Vignoli A; Briola F; Morenghi E; Tansini L; Alfano RM; Bulfamante G; Terraneo S; Ghelma F; Banderali G; Viskochil DH; Carey JC; Canevini MP;
    Eur J Med Genet; 2018 Jul; 61(7):403-410. PubMed ID: 29432982
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study.
    Boronat S; Shaaya EA; Doherty CM; Caruso P; Thiele EA
    Clin Genet; 2014 Aug; 86(2):149-54. PubMed ID: 23909698
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature.
    Iznardo H; Bernal S; Boronat S; Roé E
    Pediatr Neurol; 2023 Nov; 148():14-16. PubMed ID: 37634327
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neural Crest-Specific TSC1 Deletion in Mice Leads to Sclerotic Craniofacial Bone Lesion.
    Fang F; Sun S; Wang L; Guan JL; Giovannini M; Zhu Y; Liu F
    J Bone Miner Res; 2015 Jul; 30(7):1195-205. PubMed ID: 25639352
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Less common manifestations in TSC.
    Boronat S; Barber I
    Am J Med Genet C Semin Med Genet; 2018 Sep; 178(3):348-354. PubMed ID: 30156054
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mouse model of craniofacial bone lesion of tuberous sclerosis complex.
    Fang F; Wei X; Hu M; Liu F
    Musculoskelet Regen; 2015; 1(1):. PubMed ID: 26052552
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study.
    Ding Y; Wang J; Zhou S; Zhou Y; Zhang L; Yu L; Wang Y
    Front Genet; 2020; 11():204. PubMed ID: 32211034
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex.
    Pal D; Forster N; Madan M; Whitney R; Farncombe KM; Kim RH
    Can J Neurol Sci; 2024 Sep; 51(5):636-643. PubMed ID: 38149783
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study.
    Li S; Zhang Y; Wang Z; Yang Y; Gao W; Li D; Wei J
    Hum Pathol; 2018 Dec; 82():61-67. PubMed ID: 30036593
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex.
    Boronat S; Barber I; Pargaonkar V; Chang J; Thiele EA
    Pediatr Radiol; 2016 May; 46(5):689-94. PubMed ID: 26965910
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
    Sancak O; Nellist M; Goedbloed M; Elfferich P; Wouters C; Maat-Kievit A; Zonnenberg B; Verhoef S; Halley D; van den Ouweland A
    Eur J Hum Genet; 2005 Jun; 13(6):731-41. PubMed ID: 15798777
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.
    Papadopoulou A; Dinopoulos A; Koutsodontis G; Pons R; Vorgia P; Koute V; Vratimos A; Zafeiriou D
    Eur J Paediatr Neurol; 2018 May; 22(3):419-426. PubMed ID: 29500070
    [TBL] [Abstract][Full Text] [Related]  

  • 18. CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis.
    Avila NA; Dwyer AJ; Rabel A; Darling T; Hong CH; Moss J
    Radiology; 2010 Mar; 254(3):851-7. PubMed ID: 20177097
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex.
    Bai D; Zhao J; Li L; Gao J; Wang X
    Sci China Life Sci; 2017 Jul; 60(7):763-771. PubMed ID: 28623545
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
    Rendtorff ND; Bjerregaard B; Frödin M; Kjaergaard S; Hove H; Skovby F; Brøndum-Nielsen K; Schwartz M;
    Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.