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 *

175 related articles for article (PubMed ID: 11464239)

  • 21. Spinal muscular atrophy carrier screening by multiplex polymerase chain reaction using dried blood spot on filter paper.
    Majumdar R; Rehana Z; Al Jumah M; Fetaini N
    Ann Hum Genet; 2005 Mar; 69(Pt 2):216-21. PubMed ID: 15720302
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
    Clermont O; Burlet P; Benit P; Chanterau D; Saugier-Veber P; Munnich A; Cusin V
    Hum Mutat; 2004 Nov; 24(5):417-27. PubMed ID: 15459957
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
    Zapletalová E; Hedvicáková P; Kozák L; Vondrácek P; Gaillyová R; Maríková T; Kalina Z; Jüttnerová V; Fajkus J; Fajkusová L
    Neuromuscul Disord; 2007 Jun; 17(6):476-81. PubMed ID: 17475491
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Spinal muscular atrophy: from gene to therapy.
    Wirth B; Brichta L; Hahnen E
    Semin Pediatr Neurol; 2006 Jun; 13(2):121-31. PubMed ID: 17027862
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Spinal muscular atrophy diagnostics.
    Prior TW
    J Child Neurol; 2007 Aug; 22(8):952-6. PubMed ID: 17761649
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy.
    DiMatteo D; Callahan S; Kmiec EB
    Exp Cell Res; 2008 Feb; 314(4):878-86. PubMed ID: 18078930
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
    Cuscó I; Barceló MJ; Baiget M; Tizzano EF
    Hum Mutat; 2002 Dec; 20(6):452-9. PubMed ID: 12442269
    [TBL] [Abstract][Full Text] [Related]  

  • 28. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.
    Ogino S; Wilson RB; Gold B
    Eur J Hum Genet; 2004 Dec; 12(12):1015-23. PubMed ID: 15470363
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Quantitative analysis of the genes determining spinal muscular atrophy].
    Nagymihály M; Herczegfalvi A; Tímár L; Karcagi V
    Ideggyogy Sz; 2009 Nov; 62(11-12):390-7. PubMed ID: 20025129
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Efficient strategies for preimplantation genetic diagnosis of spinal muscular atrophy.
    Girardet A; Fernandez C; Claustres M
    Fertil Steril; 2008 Aug; 90(2):443.e7-12. PubMed ID: 17953949
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.
    Gérard B; Ginet N; Matthijs G; Evrard P; Baumann C; Da Silva F; Gérard-Blanluet M; Mayer M; Grandchamp B; Elion J
    Hum Mutat; 2000 Sep; 16(3):253-63. PubMed ID: 10980532
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy.
    Wang CC; Chang JG; Ferrance J; Chen HY; You CY; Chang YF; Jong YJ; Wu SM; Yeh CH
    Electrophoresis; 2008 Jul; 29(13):2904-11. PubMed ID: 18546169
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Spinal muscular atrophy: state-of-the-art and therapeutic perspectives.
    Wirth B
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2002 Jun; 3(2):87-95. PubMed ID: 12215230
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Analysis of deletional damage in SMN1, SMN2, and NAIP genes in patients with spinal muscular atrophy in the northwestern region of Russia].
    Glotov AS; Kiselev AV; Ivashchenko TE; Baranov VS
    Genetika; 2001 Aug; 37(8):1156-9. PubMed ID: 11642117
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis.
    Chen WJ; Wu ZY; Lin MT; Su JF; Lin Y; Murong SX; Wang N
    Arch Neurol; 2007 Feb; 64(2):225-31. PubMed ID: 17296838
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy.
    Chen KL; Wang YL; Rennert H; Joshi I; Mills JK; Leonard DG; Wilson RB
    Am J Med Genet; 1999 Aug; 85(5):463-9. PubMed ID: 10405443
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.
    Gamez J; Also E; Alias L; Corbera-Bellalta M; Barceló MJ; Centeno M; Raguer N; Gratacós M; Baiget M; Tizzano EF
    Clin Neurol Neurosurg; 2007 Dec; 109(10):844-8. PubMed ID: 17850955
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
    Watihayati MS; Fatemeh H; Marini M; Atif AB; Zahiruddin WM; Sasongko TH; Tang TH; Zabidi-Hussin ZA; Nishio H; Zilfalil BA
    Brain Dev; 2009 Jan; 31(1):42-5. PubMed ID: 18842367
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
    Vezain M; Saugier-Veber P; Melki J; Toutain A; Bieth E; Husson M; Pedespan JM; Viollet L; Pénisson-Besnier I; Fehrenbach S; Bou J; Frébourg T; Tosi M
    Eur J Hum Genet; 2007 Oct; 15(10):1054-62. PubMed ID: 17609673
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.