BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

580 related articles for article (PubMed ID: 28676237)

  • 1. 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]  

  • 2. [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]  

  • 3. 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]  

  • 4. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
    Vidal-Folch N; Gavrilov D; Raymond K; Rinaldo P; Tortorelli S; Matern D; Oglesbee D
    Clin Chem; 2018 Dec; 64(12):1753-1761. PubMed ID: 30352867
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy].
    Li J; Zhu Y; Zhan Y; Li Y; Chen M; Wang L; He R; Zhang C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Oct; 34(5):658-661. PubMed ID: 28981927
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.
    Alías L; Barceló MJ; Bernal S; Martínez-Hernández R; Also-Rallo E; Vázquez C; Santana A; Millán JM; Baiget M; Tizzano EF
    Clin Genet; 2014 May; 85(5):470-5. PubMed ID: 23799925
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.
    Alías L; Bernal S; Calucho M; Martínez E; March F; Gallano P; Fuentes-Prior P; Abuli A; Serra-Juhe C; Tizzano EF
    Eur J Hum Genet; 2018 Oct; 26(10):1554-1557. PubMed ID: 29904179
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.
    Wei X; Tan H; Yang P; Zhang R; Tan B; Zhang Y; Mei L; Liang D; Wu L
    J Genet Couns; 2017 Feb; 26(1):72-78. PubMed ID: 27422779
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Evaluating the performance of four assays for carrier screening of spinal muscular atrophy.
    Tan J; Zhang J; Sun R; Jiang Z; Wang Y; Ma D; Jiao J; Chen H; Lin Y; Zhang Q; Xu Z; Hu P
    Clin Chim Acta; 2023 Aug; 548():117496. PubMed ID: 37479010
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Carrier Frequency of Two
    Davidson JE; Russell JS; Martinez NN; Mowat DR; Jones KJ; Kirk EP; Kariyawasam D; Farrar M; D'Silva A
    Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510307
    [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. 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]  

  • 14. Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype.
    Yanyan C; Miaomiao C; Fang S; Yujin Q; Jinli B; Hong W
    Yi Chuan; 2021 Feb; 43(2):160-168. PubMed ID: 33724218
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.
    Botta A; Tacconelli A; Bagni I; Giardina E; Bonifazi E; Pietropolli A; Clementi M; Novelli G
    Neurology; 2005 Nov; 65(10):1631-5. PubMed ID: 16301493
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. 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]  

  • 18. Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR.
    Abbaszadegan MR; Keify F; Ashrafzadeh F; Farshchian M; Khadivi-Zand F; Teymoorzadeh MN; Mojahedi F; Ebrahimzadeh R; Ahadian M
    Arch Iran Med; 2011 May; 14(3):188-91. PubMed ID: 21529108
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy.
    Chen WJ; Wu ZY; Wang N; Lin MT; Mu-rong SX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Dec; 22(6):559-602. PubMed ID: 16331551
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.
    Zeng J; Lin Y; Yan A; Ke L; Zhu Z; Lan F
    J Mol Diagn; 2011 Jan; 13(1):41-7. PubMed ID: 21227393
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.