BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

866 related articles for article (PubMed ID: 22608477)

  • 21. Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
    Jang MA; Hong SB; Lee JH; Lee MH; Chung MP; Shin HJ; Kim JW; Ki CS
    Pediatr Neurol; 2012 Apr; 46(4):222-4. PubMed ID: 22490766
    [TBL] [Abstract][Full Text] [Related]  

  • 22. An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
    Chopra M; Lawson JA; Wilson M; Kennedy SE; Taylor P; Buckley MF; Wargon O; Parasivam G; Camphausen C; Yates D; Mowat D
    J Paediatr Child Health; 2011 Oct; 47(10):711-6. PubMed ID: 21449900
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.
    Cai Y; Li H; Zhang Y
    Urology; 2017 Mar; 101():170.e1-170.e7. PubMed ID: 28065512
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Cognitive prognosis of patients with tuberous sclerosis complex.
    Winterkorn EB; Pulsifer MB; Thiele EA
    Neurology; 2007 Jan; 68(1):62-4. PubMed ID: 17200495
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG.
    Muzykewicz DA; Costello DJ; Halpern EF; Thiele EA
    Epilepsia; 2009 Feb; 50(2):290-6. PubMed ID: 18801034
    [TBL] [Abstract][Full Text] [Related]  

  • 26. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
    Langkau N; Martin N; Brandt R; Zügge K; Quast S; Wiegele G; Jauch A; Rehm M; Kuhl A; Mack-Vetter M; Zimmerhackl LB; Janssen B
    Eur J Pediatr; 2002 Jul; 161(7):393-402. PubMed ID: 12111193
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex.
    Jeong A; Wong M
    Epilepsia; 2016 Sep; 57(9):1443-9. PubMed ID: 27417921
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
    Niida Y; Lawrence-Smith N; Banwell A; Hammer E; Lewis J; Beauchamp RL; Sims K; Ramesh V; Ozelius L
    Hum Mutat; 1999; 14(5):412-22. PubMed ID: 10533067
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex.
    Pompili G; Zirpoli S; Sala C; Flor N; Alfano RM; Volpi A; Brancaccio D; Sardanelli F; Cornalba G
    Eur J Radiol; 2009 Nov; 72(2):335-41. PubMed ID: 18835118
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.
    Back SJ; Andronikou S; Kilborn T; Kaplan BS; Darge K
    Pediatr Radiol; 2015 Mar; 45(3):386-95. PubMed ID: 25355409
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
    van Slegtenhorst M; Verhoef S; Tempelaars A; Bakker L; Wang Q; Wessels M; Bakker R; Nellist M; Lindhout D; Halley D; van den Ouweland A
    J Med Genet; 1999 Apr; 36(4):285-9. PubMed ID: 10227394
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
    van Eeghen AM; Nellist M; van Eeghen EE; Thiele EA
    Epilepsy Res; 2013 Jan; 103(1):83-7. PubMed ID: 22867869
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Role of mutational analysis in diagnosis of tuberous sclerosis complex.
    Vail EA; Rakowski SK; Numis AL; Thiele EA
    Clin Genet; 2009 Mar; 75(3):282-5. PubMed ID: 19250385
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Reduced TSC2 RNA and protein in sporadic astrocytomas and ependymomas.
    Wienecke R; Guha A; Maize JC; Heideman RL; DeClue JE; Gutmann DH
    Ann Neurol; 1997 Aug; 42(2):230-5. PubMed ID: 9266734
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Epileptic spasms in tuberous sclerosis complex.
    Hsieh DT; Jennesson MM; Thiele EA
    Epilepsy Res; 2013 Sep; 106(1-2):200-10. PubMed ID: 23796861
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Subependymal giant cell astrocytoma in tuberous sclerosis complex. A presentation of eight paediatric patients].
    Pascual-Castroviejo I; Pascual-Pascual SI; Velázquez-Fragua R; Viaño J; Carceller F; Hernández-Moneo JL; Gutiérrez-Molina M; Morales C
    Neurologia; 2010 Jun; 25(5):314-21. PubMed ID: 20643042
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 44.