BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 15608400)

  • 21. 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]  

  • 22. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
    Martín Y; Valero A; del Castillo E; Pascual SI; Hernández-Chico C
    Hum Genet; 2002 Mar; 110(3):257-63. PubMed ID: 11935338
    [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. 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]  

  • 25. 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]  

  • 26. High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.
    Bouhouche A; Benomar A; Birouk N; Bouslam N; Ouazzani R; Yahyaoui M; Chkili T
    J Neurol; 2003 Oct; 250(10):1209-13. PubMed ID: 14586604
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [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]  

  • 28. [Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA].
    Jedrzejowska M; Madej-Pilarczyk A; Zimowski J; Hausmanowa-Petrusewicz I
    Neurol Neurochir Pol; 2006; 40(5):446-9. PubMed ID: 17103359
    [TBL] [Abstract][Full Text] [Related]  

  • 29. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
    Wirth B
    Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular analysis of the spinal muscular atrophy and neuronal apoptosis inhibitory protein genes in Saudi patients with spinal muscular atrophy.
    Al-Jumah M; Majumdar R; Al-Rajeh S; Awada A; Chaves-Carbello E; Salih M; Al-Shahwan S; Al-Subiey K; Al-Uthaim S
    Saudi Med J; 2003 Oct; 24(10):1052-4. PubMed ID: 14578966
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.
    Cuscó I; López E; Soler-Botija C; Jesús Barceló M; Baiget M; Tizzano EF
    Hum Mutat; 2003 Aug; 22(2):136-43. PubMed ID: 12872254
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
    Arkblad EL; Darin N; Berg K; Kimber E; Brandberg G; Lindberg C; Holmberg E; Tulinius M; Nordling M
    Neuromuscul Disord; 2006 Dec; 16(12):830-8. PubMed ID: 17049859
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. [Application of real-time PCR analysis of the SMN1gene in the carrier testing of spinal muscular atrophy].
    Lu LP; Ma HW; Jiang J; Wang T; Hu B
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Oct; 9(5):457-60. PubMed ID: 17937858
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Prenatal diagnosis of spinal muscular atrophy: Indian scenario.
    Kesari A; Rennert H; Leonard DG; Phadke SR; Mittal B
    Prenat Diagn; 2005 Aug; 25(8):641-4. PubMed ID: 16049987
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
    Wirth B; Herz M; Wetter A; Moskau S; Hahnen E; Rudnik-Schöneborn S; Wienker T; Zerres K
    Am J Hum Genet; 1999 May; 64(5):1340-56. PubMed ID: 10205265
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Spinal muscular atrophy: molecular genetics and diagnostics.
    Ogino S; Wilson RB
    Expert Rev Mol Diagn; 2004 Jan; 4(1):15-29. PubMed ID: 14711346
    [TBL] [Abstract][Full Text] [Related]  

  • 38. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
    Corcia P; Camu W; Halimi JM; Vourc'h P; Antar C; Vedrine S; Giraudeau B; de Toffol B; Andres CR;
    Neurology; 2006 Oct; 67(7):1147-50. PubMed ID: 16931506
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1.
    Ogino S; Gao S; Leonard DG; Paessler M; Wilson RB
    Eur J Hum Genet; 2003 Mar; 11(3):275-7. PubMed ID: 12673282
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.
    Passon N; Pozzo F; Molinis C; Bregant E; Gellera C; Damante G; Lonigro RI
    Genet Test Mol Biomarkers; 2009 Feb; 13(1):37-42. PubMed ID: 19309272
    [TBL] [Abstract][Full Text] [Related]  

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