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 *

621 related articles for article (PubMed ID: 10205265)

  • 1. 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]  

  • 2. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
    Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
    Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
    Ogino S; Wilson RB
    Hum Genet; 2002 Dec; 111(6):477-500. PubMed ID: 12436240
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
    Feldkötter M; Schwarzer V; Wirth R; Wienker TF; Wirth B
    Am J Hum Genet; 2002 Feb; 70(2):358-68. PubMed ID: 11791208
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
    Brichta L; Garbes L; Jedrzejowska M; Grellscheid SN; Holker I; Zimmermann K; Wirth B
    Hum Genet; 2008 Mar; 123(2):141-53. PubMed ID: 18172693
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
    Parsons DW; McAndrew PE; Iannaccone ST; Mendell JR; Burghes AH; Prior TW
    Am J Hum Genet; 1998 Dec; 63(6):1712-23. PubMed ID: 9837824
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
    Cuscó I; Barceló MJ; del Rio E; Martín Y; Hernández-Chico C; Bussaglia E; Baiget M; Tizzano EF
    Hum Genet; 2001 Mar; 108(3):222-9. PubMed ID: 11354634
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Robust quantification of the SMN gene copy number by real-time TaqMan PCR.
    Gómez-Curet I; Robinson KG; Funanage VL; Crawford TO; Scavina M; Wang W
    Neurogenetics; 2007 Nov; 8(4):271-8. PubMed ID: 17647030
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.
    Harada Y; Sutomo R; Sadewa AH; Akutsu T; Takeshima Y; Wada H; Matsuo M; Nishio H
    J Neurol; 2002 Sep; 249(9):1211-9. PubMed ID: 12242541
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Phenotypes of SMA patients retaining SMN1 with intragenic mutation.
    Wijaya YOS; Ar Rohmah M; Niba ETE; Morisada N; Noguchi Y; Hidaka Y; Ozasa S; Inoue T; Shimazu T; Takahashi Y; Tozawa T; Chiyonobu T; Inoue T; Shiroshita T; Yokoyama A; Okamoto K; Awano H; Takeshima Y; Saito T; Saito K; Nishio H; Shinohara M
    Brain Dev; 2021 Aug; 43(7):745-758. PubMed ID: 33892995
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
    Monani UR; Lorson CL; Parsons DW; Prior TW; Androphy EJ; Burghes AH; McPherson JD
    Hum Mol Genet; 1999 Jul; 8(7):1177-83. PubMed ID: 10369862
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
    Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H
    Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.
    Diep Tran T; Kroepfl T; Saito M; Nagura M; Ichiseki H; Kubota M; Toda T; Sakakihara Y
    Brain Dev; 2001 Aug; 23(5):321-6. PubMed ID: 11504604
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of spinal muscular atrophy carriers by nested polymerase chain reaction of single sperm cells.
    Yaron Y; Cohen T; Mey-Raz N; Schwartz T; Amit A; Malcov M
    Genet Test; 2006; 10(1):18-23. PubMed ID: 16544998
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 32.