BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 28120840)

  • 1. Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.
    Parks M; Court S; Bowns B; Cleary S; Clokie S; Hewitt J; Williams D; Cole T; MacDonald F; Griffiths M; Allen S
    Eur J Hum Genet; 2017 Apr; 25(4):416-422. PubMed ID: 28120840
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.
    Parks M; Court S; Cleary S; Clokie S; Hewitt J; Williams D; Cole T; MacDonald F; Griffiths M; Allen S
    Prenat Diagn; 2016 Apr; 36(4):312-20. PubMed ID: 26824862
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Targeted sequencing of maternal plasma for haplotype-based non-invasive prenatal testing of spinal muscular atrophy.
    Chen M; Lu S; Lai ZF; Chen C; Luo K; Yuan Y; Wang YS; Li SQ; Gao Y; Chen F; Asan ; Chen DJ
    Ultrasound Obstet Gynecol; 2017 Jun; 49(6):799-802. PubMed ID: 27102838
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Carrier screening for spinal muscular atrophy in 4719 pregnant women in Shanghai region].
    Gong B; Zhang L; Hou YP; Hu HY; Li HC; Tan MY; Chen J; Yu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Dec; 30(6):670-2. PubMed ID: 24327144
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. SMN1 dosage analysis in spinal muscular atrophy from India.
    Kesari A; Rennert H; Leonard DG; Mittal B
    BMC Med Genet; 2005 May; 6():22. PubMed ID: 15910686
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study.
    Su YN; Hung CC; Lin SY; Chen FY; Chern JP; Tsai C; Chang TS; Yang CC; Li H; Ho HN; Lee CN
    PLoS One; 2011 Feb; 6(2):e17067. PubMed ID: 21364876
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exploring factors impacting haplotype-based noninvasive prenatal diagnosis for single-gene recessive disorders.
    Kong L; Li S; Zhao Z; Feng J; Fu X; Li H; Zhu J; Wang Y; Tang W; Yuan C; Li F; Han X; Wu D; Kong X; Sun L
    Clin Genet; 2024 Jan; 105(1):52-61. PubMed ID: 37822034
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy].
    Zou Y; Xu P; Li J; Huang S; Gao M; Kang R; Gao X; Gao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):594-7. PubMed ID: 27577201
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.
    Lam KW; Jiang P; Liao GJ; Chan KC; Leung TY; Chiu RW; Lo YM
    Clin Chem; 2012 Oct; 58(10):1467-75. PubMed ID: 22896714
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.
    Wei X; Lv W; Tan H; Liang D; Wu L
    J Clin Lab Anal; 2020 Feb; 34(2):e23046. PubMed ID: 31556165
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion.
    Baris I; Etlik O; Koksal V; Arican-Baris ST
    Mol Cell Probes; 2010 Jun; 24(3):138-41. PubMed ID: 20025960
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.
    Semprini S; Tacconelli A; Capon F; Brancati F; Dallapiccola B; Novelli G
    Genet Test; 2001; 5(1):33-7. PubMed ID: 11336398
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. 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]  

  • 16. Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.
    Basel-Vanagaite L; Taub E; Drasinover V; Magal N; Brudner A; Zlotogora J; Shohat M
    Genet Test; 2008 Mar; 12(1):53-6. PubMed ID: 18298318
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Studies on the molecular diagnosis and prenatal diagnosis of the spinal muscular atrophy carriers by multiplex ligation-dependent probe].
    Zhu H; Hu Y; Li J; Yang Y; Wu X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Feb; 27(1):38-41. PubMed ID: 20140865
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.
    Gao B; Jiang Y; Han M; Ji X; Zhang D; Wu L; Gao X; Huang S; Zhao C; Su Y; Yang S; Zhang X; Liu N; Han L; Wang L; Ren L; Yang J; Wu J; Yuan Y; Dai P
    J Mol Diagn; 2024 Jul; 26(7):638-651. PubMed ID: 38663495
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband.
    Li H; Du B; Jiang F; Guo Y; Wang Y; Zhang C; Zeng X; Xie Y; Ouyang S; Xian Y; Chen M; Liu W; Sun X
    Mol Genet Genomic Med; 2019 Nov; 7(11):e963. PubMed ID: 31566929
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.