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 *

195 related articles for article (PubMed ID: 20564270)

  • 41. SMN oligomerization defect correlates with spinal muscular atrophy severity.
    Lorson CL; Strasswimmer J; Yao JM; Baleja JD; Hahnen E; Wirth B; Le T; Burghes AH; Androphy EJ
    Nat Genet; 1998 May; 19(1):63-6. PubMed ID: 9590291
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy.
    Wang CC; Chang JG; Jong YJ; Wu SM
    Electrophoresis; 2009 Apr; 30(7):1102-10. PubMed ID: 19373809
    [TBL] [Abstract][Full Text] [Related]  

  • 43. High-resolution melting (HRM) analysis as a feasible method for detecting spinal muscular atrophy via dried blood spots.
    Er TK; Kan TM; Su YF; Liu TC; Chang JG; Hung SY; Jong YJ
    Clin Chim Acta; 2012 Nov; 413(21-22):1781-5. PubMed ID: 22771969
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients.
    Qu YJ; Song F; Yang YL; Jin YW; Bai JL
    Chin Med J (Engl); 2011 Feb; 124(3):385-9. PubMed ID: 21362338
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.
    Kubo Y; Nishio H; Saito K
    J Hum Genet; 2015 May; 60(5):233-9. PubMed ID: 25716911
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy.
    Sasongko TH; Gunadi ; Zilfalil BA; Zabidi-Hussin Z
    J Neurogenet; 2011 Mar; 25(1-2):15-6. PubMed ID: 21338334
    [TBL] [Abstract][Full Text] [Related]  

  • 47. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.
    Lohkamp LN; von Au K; Goebel HH; Kress W; Grieben U; Drossel K; Garbes L; Wirth B; Heppner FL; Stenzel W
    J Child Neurol; 2014 Feb; 29(2):254-9. PubMed ID: 24334346
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.
    Yamada H; Nishida Y; Maihara T; Sa'adah N; Harahap NI; Nurputra DK; Ar Rochmah M; Nishimura N; Saito T; Kubo Y; Saito K; Nishio H
    Pediatr Neurol; 2015 Jun; 52(6):638-41. PubMed ID: 25838041
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Mutation analysis in spinal muscular atrophy using allele-specific polymerase chain reaction.
    Kesari A; Mukherjee M; Mittal B
    Indian J Biochem Biophys; 2003 Dec; 40(6):439-41. PubMed ID: 22900372
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Using mini-genes to identify factors that modulate alternative splicing.
    Morse R; Todd AG; Young PJ
    Methods Mol Biol; 2012; 867():349-62. PubMed ID: 22454072
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy.
    Malcov M; Schwartz T; Mei-Raz N; Yosef DB; Amit A; Lessing JB; Shomrat R; Orr-Urtreger A; Yaron Y
    Fetal Diagn Ther; 2004; 19(2):199-206. PubMed ID: 14764971
    [TBL] [Abstract][Full Text] [Related]  

  • 52. A simple and precise diagnostic method for spinal muscular atrophy using a quantitative SNP analysis system.
    Hwang HS; Shin GW; Jung GY; Jung GY
    Electrophoresis; 2014 Dec; 35(23):3402-7. PubMed ID: 25113913
    [TBL] [Abstract][Full Text] [Related]  

  • 53. [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
    Genetika; 2015 Sep; 51(9):1075-82. PubMed ID: 26606804
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population.
    Chen TH; Tzeng CC; Wang CC; Wu SM; Chang JG; Yang SN; Hung CH; Jong YJ
    J Neurol Sci; 2011 Sep; 308(1-2):83-7. PubMed ID: 21705024
    [TBL] [Abstract][Full Text] [Related]  

  • 55. In vitro gene manipulation of spinal muscular atrophy fibroblast cell line using gene-targeting fragment for restoration of SMN protein expression.
    Rashnonejad A; Gündüz C; Süslüer SY; Onay H; Durmaz B; Bandehpour M; Özkınay F
    Gene Ther; 2016 Jan; 23(1):10-7. PubMed ID: 26331341
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA.
    Ar Rochmah M; Harahap NIF; Niba ETE; Nakanishi K; Awano H; Morioka I; Iijima K; Saito T; Saito K; Lai PS; Takeshima Y; Takeuchi A; Bouike Y; Okamoto M; Nishio H; Shinohara M
    Brain Dev; 2017 Oct; 39(9):774-782. PubMed ID: 28522225
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Genotype-phenotype relationship in 2 SMA III patients with novel mutations in the Tudor domain.
    Fraidakis MJ; Drunat S; Maisonobe T; Gerard B; Pradat PF; Meininger V; Salachas F
    Neurology; 2012 Feb; 78(8):551-6. PubMed ID: 22323744
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and intragenic mutations.
    Morikawa S; Harahap IS; Kaszynski RH; Yamamoto T; Pramudya DK; Pham HT; Hartomo TB; Lee MJ; Morioka I; Nishimura N; Yokoyama N; Ueno Y; Matsuo M; Nishio H
    Genet Test Mol Biomarkers; 2011 Oct; 15(10):677-84. PubMed ID: 21631299
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A "turn on/off" scorpion biosensor targeting point mutation of SMN genes for diagnosis of spinal muscular atrophy.
    Chen CA; Wang CC; Chen YL; Jong YJ; Wu SM
    Chem Commun (Camb); 2014 Jul; 50(59):8069-72. PubMed ID: 24923693
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations.
    Noguchi Y; Onishi A; Nakamachi Y; Hayashi N; Harahap NI; Rochmah MA; Shima A; Yanagisawa S; Morisada N; Nakagawa T; Iijima K; Kasagi S; Saegusa J; Kawano S; Shinohara M; Tairaku S; Saito T; Kubo Y; Saito K; Nishio H
    Pediatr Neurol; 2016 May; 58():83-9. PubMed ID: 27268759
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.