BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

266 related articles for article (PubMed ID: 19625283)

  • 1. Differences in SMN1 allele frequencies among ethnic groups within North America.
    Hendrickson BC; Donohoe C; Akmaev VR; Sugarman EA; Labrousse P; Boguslavskiy L; Flynn K; Rohlfs EM; Walker A; Allitto B; Sears C; Scholl T
    J Med Genet; 2009 Sep; 46(9):641-4. PubMed ID: 19625283
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [A pilot study on spinal muscular atrophy carrier screening in Shanghai region using real-time PCR].
    Qu XX; Xiao B; Ji X; Jiang WT; Yang ZJ; Tao J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb; 30(1):1-4. PubMed ID: 23450468
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.
    Luo M; Liu L; Peter I; Zhu J; Scott SA; Zhao G; Eversley C; Kornreich R; Desnick RJ; Edelmann L
    Genet Med; 2014 Feb; 16(2):149-56. PubMed ID: 23788250
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Genetic risk assessment in carrier testing for spinal muscular atrophy.
    Ogino S; Leonard DG; Rennert H; Ewens WJ; Wilson RB
    Am J Med Genet; 2002 Jul; 110(4):301-7. PubMed ID: 12116201
    [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. 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]  

  • 9. Carrier frequency of spinal muscular atrophy in Thailand.
    Dejsuphong D; Taweewongsounton A; Khemthong P; Chitphuk S; Stitchantrakul W; Sritara P; Tunteeratum A; Sura T
    Neurol Sci; 2019 Aug; 40(8):1729-1732. PubMed ID: 31004230
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. 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]  

  • 12. Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.
    Ibrahim F; Velayutham D; Alsharshani M; AlAlami U; AlDewik M; Abuarja T; Al Rifai H; Al-Dewik NI
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2184. PubMed ID: 37964750
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
    Sheng-Yuan Z; Xiong F; Chen YJ; Yan TZ; Zeng J; Li L; Zhang YN; Chen WQ; Bao XH; Zhang C; Xu XM
    Eur J Hum Genet; 2010 Sep; 18(9):978-84. PubMed ID: 20442745
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method.
    Azad AK; Huang CK; Jin H; Zou H; Yanakakis L; Du J; Fiddler M; Naeem R; Goldstein Y
    Lab Med; 2020 Jul; 51(4):408-415. PubMed ID: 31875889
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Population screening and cascade testing for carriers of SMA.
    Smith M; Calabro V; Chong B; Gardiner N; Cowie S; du Sart D
    Eur J Hum Genet; 2007 Jul; 15(7):759-66. PubMed ID: 17392705
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region].
    Zhang Y; Wang L; He J; Guo J; Jin C; Tang X; Zhang J; Chen H; Zhang J; Su J; Zhu B
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):384-388. PubMed ID: 32219818
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.
    Sugarman EA; Nagan N; Zhu H; Akmaev VR; Zhou Z; Rohlfs EM; Flynn K; Hendrickson BC; Scholl T; Sirko-Osadsa DA; Allitto BA
    Eur J Hum Genet; 2012 Jan; 20(1):27-32. PubMed ID: 21811307
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.