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 *

125 related articles for article (PubMed ID: 11996521)

  • 21. Determination of SMN1 and SMN2 copy number using TaqMan technology.
    Anhuf D; Eggermann T; Rudnik-Schöneborn S; Zerres K
    Hum Mutat; 2003 Jul; 22(1):74-8. PubMed ID: 12815596
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A clinical and genetic study of spinal muscular atrophy.
    Mishra VN; Kalita J; Kesari A; Mitta B; Shankar SK; Misra UK
    Electromyogr Clin Neurophysiol; 2004; 44(5):307-12. PubMed ID: 15378871
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.
    García-Cabezas MA; García-Alix A; Martín Y; Gutiérrez M; Hernández C; Rodríguez JI; Morales C
    Acta Neuropathol; 2004 May; 107(5):475-8. PubMed ID: 14968368
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Sleep disordered breathing in spinal muscular atrophy.
    Mellies U; Dohna-Schwake C; Stehling F; Voit T
    Neuromuscul Disord; 2004 Dec; 14(12):797-803. PubMed ID: 15564035
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system.
    Shaw SW; Cheng PJ; Chang SD; Lin YT; Hung CC; Chen CP; Su YN
    Acta Obstet Gynecol Scand; 2008; 87(9):960-8. PubMed ID: 18720039
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene.
    Hung CC; Lee CN; Chen CP; Jong YJ; Chen CA; Cheng WF; Lin WL; Su YN
    Anal Chem; 2005 Nov; 77(21):6960-8. PubMed ID: 16255596
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Phenotype and genotype correlation in childhood spinal muscular atrophy.
    Hausmanowa-Petrusewicz I
    Neurol Neurochir Pol; 2001; 35 Suppl 3():29-35. PubMed ID: 12001651
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Spinal muscular atrophy.
    Lunn MR; Wang CH
    Lancet; 2008 Jun; 371(9630):2120-33. PubMed ID: 18572081
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Molecular biology of SMA (spinal muscular atrophy)].
    Kataoka N
    Tanpakushitsu Kakusan Koso; 2003 Mar; 48(4 Suppl):524-31. PubMed ID: 12696163
    [No Abstract]   [Full Text] [Related]  

  • 30. Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy.
    Moutou C; Gardes N; Viville S
    Prenat Diagn; 2003 Aug; 23(8):685-9. PubMed ID: 12913876
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.
    Eggermann T; Zerres K; Anhuf D; Kotzot D; Fauth C; Rudnik-Schöneborn S
    Eur J Hum Genet; 2005 Mar; 13(3):309-13. PubMed ID: 15586177
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy.
    Beattie CE; Carrel TL; McWhorter ML
    J Child Neurol; 2007 Aug; 22(8):995-1003. PubMed ID: 17761655
    [TBL] [Abstract][Full Text] [Related]  

  • 33. What's new in the molecular genetics of spinal muscular atrophy?
    Talbot K
    Eur J Paediatr Neurol; 1997; 1(5-6):149-55. PubMed ID: 10728211
    [No Abstract]   [Full Text] [Related]  

  • 34. Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria.
    Kremensky I; Jankova S; Bochukova E; Uzunova M; Litvinenko I; Jordanova A
    J Inherit Metab Dis; 1999 May; 22(3):322-6. PubMed ID: 10384397
    [No Abstract]   [Full Text] [Related]  

  • 35. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy.
    Sutomo R; Akutsu T; Takeshima Y; Nishio H; Sadewa AH; Harada Y; Matsuo M
    Am J Med Genet; 2002 Nov; 113(2):225-6. PubMed ID: 12407717
    [No Abstract]   [Full Text] [Related]  

  • 36. [Proximal autosomal recessive types of spinal muscular atrophy].
    Kolokolov OV; Iudina GK; Solovykh NN; Evgrafov OV
    Zh Nevrol Psikhiatr Im S S Korsakova; 2003; 103(8):66-8. PubMed ID: 14564781
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography.
    Mazzei R; Conforti FL; Muglia M; Sprovieri T; Patitucci A; Magariello A; Gabriele AL; Quattrone A
    J Child Neurol; 2003 Apr; 18(4):269-71. PubMed ID: 12760430
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Perspectives on clinical trials in spinal muscular atrophy.
    Swoboda KJ; Kissel JT; Crawford TO; Bromberg MB; Acsadi G; D'Anjou G; Krosschell KJ; Reyna SP; Schroth MK; Scott CB; Simard LR
    J Child Neurol; 2007 Aug; 22(8):957-66. PubMed ID: 17761650
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Quantitative analysis of SMN gene copies in spinal muscular atrophy].
    Ding HX; Yang XS; Xiao B; Wu ZG; Zhang LF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Apr; 21(2):153-5. PubMed ID: 15079799
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Nucleotide differences in SMN1 and SMN2 gene.
    Kesari A; Mittal B
    Prenat Diagn; 2004 May; 24(5):398. PubMed ID: 15164419
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.