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 *

165 related articles for article (PubMed ID: 32659294)

  • 1. Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype.
    Zhao X; Wang Y; Mei S; Chen C; Liu L; Wang C; Zhao G; Kong X
    Eur J Med Genet; 2020 Sep; 63(9):104006. PubMed ID: 32659294
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.
    Xu Y; Xiao B; Liu Y; Qu XX; Dai MY; Ying XM; Jiang WT; Zhang JM; Liu XQ; Chen YW; Ji X
    Neuromuscul Disord; 2020 Mar; 30(3):219-226. PubMed ID: 32169315
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
    DU J; Qu YJ; Xiong H; Li EZ; Jin YW; Bai JL; Wang H; Song F
    Zhonghua Er Ke Za Zhi; 2011 Jun; 49(6):411-5. PubMed ID: 21924051
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].
    Song F; Qu YJ; Zou LP; Wang LW; Long MJ; Wang X; Yang YL; Chen Q; Wang H; Jin YW
    Zhonghua Er Ke Za Zhi; 2008 Dec; 46(12):919-23. PubMed ID: 19134255
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
    Bai J; Qu Y; Song F; Cao Y; Cheng M; Wang J; Jin Y; Wang H
    J Mol Neurosci; 2021 Jan; 71(1):112-121. PubMed ID: 32812185
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.
    He J; Zhang QJ; Lin QF; Chen YF; Lin XZ; Lin MT; Murong SX; Wang N; Chen WJ
    Gene; 2013 Apr; 518(2):325-9. PubMed ID: 23352792
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.
    Zarkov M; Stojadinović A; Sekulić S; Barjaktarović I; Perić S; Keković G; Drasković B; Stević Z
    Vojnosanit Pregl; 2015 Oct; 72(10):859-63. PubMed ID: 26665550
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy.
    Ma K; Zhang K; Chen D; Wang C; Abdalla M; Zhang H; Tian R; Liu Y; Song L; Zhang X; Liu F; Liu G; Wang D
    Hum Mol Genet; 2024 Jun; 33(13):1120-1130. PubMed ID: 38520738
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.
    Sun Y; Kong X; Zhao Z; Zhao X
    BMC Med Genet; 2020 Jun; 21(1):133. PubMed ID: 32552676
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. [Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].
    Zeng J; Lin YH; Yan AZ; Cai MY; Ke LF; Lan FH
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Apr; 26(2):139-43. PubMed ID: 19350502
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
    Medrano S; Monges S; Gravina LP; Alías L; Mozzoni J; Aráoz HV; Bernal S; Moresco A; Chertkoff L; Tizzano E
    Eur J Paediatr Neurol; 2016 Nov; 20(6):910-917. PubMed ID: 27510309
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spinal muscular atrophy carriers with two SMN1 copies.
    Ar Rochmah M; Awano H; Awaya T; Harahap NIF; Morisada N; Bouike Y; Saito T; Kubo Y; Saito K; Lai PS; Morioka I; Iijima K; Nishio H; Shinohara M
    Brain Dev; 2017 Nov; 39(10):851-860. PubMed ID: 28676237
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
    Yu-Jin Q; Juan D; Er-zhen L; Jin-li B; Yu-wei J; Hong W; Fang S
    BMC Med Genet; 2012 Sep; 13():86. PubMed ID: 22994313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.