BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 21811971)

  • 1. [Mutation screening and prenatal diagnosis of tuberous sclerosis complex].
    Li W; Zhou LH; Gao BD; Li LY; Zhong CG; Gong F; Xiao HM; Song T; Lu GX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Aug; 28(4):361-6. PubMed ID: 21811971
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis.
    Bénit P; Bonnefont JP; Kara Mostefa A; Francannet C; Munnich A; Ray PF
    Prenat Diagn; 2001 Apr; 21(4):279-83. PubMed ID: 11288117
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
    Choi JE; Chae JH; Hwang YS; Kim KJ
    Brain Dev; 2006 Aug; 28(7):440-6. PubMed ID: 16554133
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
    Hung CC; Su YN; Chien SC; Liou HH; Chen CC; Chen PC; Hsieh CJ; Chen CP; Lee WT; Lin WL; Lee CN
    BMC Med Genet; 2006 Sep; 7():72. PubMed ID: 16981987
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
    Ali M; Girimaji SC; Markandaya M; Shukla AK; Sacchidanand S; Kumar A
    Acta Neurol Scand; 2005 Jan; 111(1):54-63. PubMed ID: 15595939
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Prenatal molecular diagnosis of tuberous sclerosis complex.
    Milunsky A; Ito M; Maher TA; Flynn M; Milunsky JM
    Am J Obstet Gynecol; 2009 Mar; 200(3):321.e1-6. PubMed ID: 19254590
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
    Mayer K; Ballhausen W; Rott HD
    Hum Mutat; 1999; 14(5):401-11. PubMed ID: 10533066
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
    Beauchamp RL; Banwell A; McNamara P; Jacobsen M; Higgins E; Northrup H; Short P; Sims K; Ozelius L; Ramesh V
    Hum Mutat; 1998; 12(6):408-16. PubMed ID: 9829910
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
    Yamashita Y; Ono J; Okada S; Wataya-Kaneda M; Yoshikawa K; Nishizawa M; Hirayama Y; Kobayashi E; Seyama K; Hino O
    Am J Med Genet; 2000 Jan; 90(2):123-6. PubMed ID: 10607950
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis.
    Apak A; Haliloğlu G; Köse G; Yilmaz E; Anlar B; Aysun S
    Turk J Pediatr; 2003; 45(1):1-5. PubMed ID: 12718362
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland.
    Devlin LA; Shepherd CH; Crawford H; Morrison PJ
    Dev Med Child Neurol; 2006 Jun; 48(6):495-9. PubMed ID: 16700943
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Detection of TSC1/TSC2 gene mutations among patients with tuberous sclerosis complex by Ion Torrent semiconductor sequencing].
    Wang Y; Lin Y; Luo C; Liang D; Ji X; Jiang T; Ma D; Xu Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):169-72. PubMed ID: 27060308
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
    Sato T; Seyama K; Fujii H; Maruyama H; Setoguchi Y; Iwakami S; Fukuchi Y; Hino O
    J Hum Genet; 2002; 47(1):20-8. PubMed ID: 11829138
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [DNA diagnosis in Czech patients with tuberous sclerosis].
    Vrtĕl R; Santavá A; Santavý J; Polák P; Krejciríková E
    Cas Lek Cesk; 2000 Apr; 139(7):203-7. PubMed ID: 10916206
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.
    Gu X; Han L; Chen J; Wang J; Hao X; Zhang Y; Zhang J; Ge S; He Y
    Medicine (Baltimore); 2018 Apr; 97(15):e0112. PubMed ID: 29642139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.