BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 38329169)

  • 1. First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way.
    Fu X; Zhao Z; Kong L; Li S; Li F; Han X; Sun L; Wu D; Wang Y; Kong X
    Am J Med Genet A; 2024 Jun; 194(6):e63560. PubMed ID: 38329169
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping.
    Zheng Y; Kong L; Xu H; Lu Y; Zhao X; Yang Y; Yu G; Li P; Liang F; Jin H; Kong X
    Prenat Diagn; 2020 Feb; 40(3):317-323. PubMed ID: 31711258
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [Application of Karyomapping for the prenatal diagnosis of five families affected with facioscapulohumerial muscular dystrophy type 1].
    Zheng Y; Kong L; Xu H; Bai Z; Lu Y; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar; 36(3):203-206. PubMed ID: 30835346
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family.
    Qin Y; Xu H; Yang J; Wu Y; Li H; Wang B; Liu L; Ren D; Xu R; Li M; Zhang C; Song J
    Front Genet; 2022; 13():1046096. PubMed ID: 36386852
    [No Abstract]   [Full Text] [Related]  

  • 6. Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.
    Chen M; Chen C; Li Y; Yuan Y; Lai Z; Guo F; Wang Y; Huang X; Li S; Wu R; Peng Z; Sun J; Chen D
    Eur J Obstet Gynecol Reprod Biol; 2019 Sep; 240():15-22. PubMed ID: 31207536
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Haplotype-Based Noninvasive Prenatal Diagnosis of 21 Families With Duchenne Muscular Dystrophy: Real-World Clinical Data in China.
    Kong L; Li S; Zhao Z; Feng J; Chen G; Liu L; Tang W; Li S; Li F; Han X; Wu D; Zhang H; Sun L; Kong X
    Front Genet; 2021; 12():791856. PubMed ID: 34970304
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
    Ricci G; Scionti I; Sera F; Govi M; D'Amico R; Frambolli I; Mele F; Filosto M; Vercelli L; Ruggiero L; Berardinelli A; Angelini C; Antonini G; Bucci E; Cao M; Daolio J; Di Muzio A; Di Leo R; Galluzzi G; Iannaccone E; Maggi L; Maruotti V; Moggio M; Mongini T; Morandi L; Nikolic A; Pastorello E; Ricci E; Rodolico C; Santoro L; Servida M; Siciliano G; Tomelleri G; Tupler R
    Brain; 2013 Nov; 136(Pt 11):3408-17. PubMed ID: 24030947
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical application of single-molecule optical mapping to a multigeneration FSHD1 pedigree.
    Zhang Q; Xu X; Ding L; Li H; Xu C; Gong Y; Liu Y; Mu T; Leigh D; Cram DS; Tang S
    Mol Genet Genomic Med; 2019 Mar; 7(3):e565. PubMed ID: 30666819
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.
    Kovanda A; Lovrečić L; Rudolf G; Babic Bozovic I; Jaklič H; Leonardis L; Peterlin B
    Genes (Basel); 2023 Nov; 14(12):. PubMed ID: 38136988
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A.
    Fu X; Li S; Zhao Z; Kong L; Zhu J; Li H; Feng J; Tang W; Wu D; Kong X
    Prenat Diagn; 2023 Nov; 43(12):1544-1555. PubMed ID: 37957774
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.
    Xu Y; Li X; Ge HJ; Xiao B; Zhang YY; Ying XM; Pan XY; Wang L; Xie WW; Ni L; Chen SP; Jiang WT; Liu P; Ye H; Cao Y; Zhang JM; Liu Y; Yang ZJ; Chen YW; Chen F; Jiang H; Ji X
    Genet Med; 2015 Nov; 17(11):889-96. PubMed ID: 25654318
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.
    Han L; Chen C; Guo F; Ye J; Peng Z; Qiu W; Wang Y; Li W; Zhang H; Liang L; Wang Y; Wang H; Ji X; Sun J; Gu X
    Prenat Diagn; 2020 Feb; 40(3):324-332. PubMed ID: 31697851
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing.
    Chen M; Chen C; Huang X; Sun J; Jiang L; Li Y; Zhu Y; Tian C; Li Y; Lu Z; Wang Y; Zeng F; Yang Y; Song X; Peng Z; Yin C; Chen D
    Prenat Diagn; 2020 Jul; 40(8):918-924. PubMed ID: 31916613
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach.
    Zhao G; Wang X; Liu L; Dai P; Kong X
    BMC Med Genomics; 2021 Nov; 14(1):275. PubMed ID: 34802424
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders.
    Young E; Bowns B; Gerrish A; Parks M; Court S; Clokie S; Mashayamombe-Wolfgarten C; Hewitt J; Williams D; Cole T; Allen S
    J Mol Diagn; 2020 Sep; 22(9):1151-1161. PubMed ID: 32553884
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
    Hanson B; Shaw J; Povarnitsyn N; Bowns B; Young E; Gerrish A; Allen S; Scotchman E; Chitty LS; Chandler NJ
    Clin Chem; 2024 May; 70(5):727-736. PubMed ID: 38592422
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.
    Wang W; Yuan Y; Zheng H; Wang Y; Zeng D; Yang Y; Yi X; Xia Y; Zhu C
    Genet Test Mol Biomarkers; 2017 Jul; 21(7):433-439. PubMed ID: 28537755
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Noninvasive prenatal diagnosis of hemophilia A by a haplotype-based approach using cell-free fetal DNA.
    Chen C; Sun J; Yang Y; Jiang L; Guo F; Zhu Y; Li D; Wu R; Lu R; Zhao M; Chen F; Ni P; He Z; Peng Z
    Biotechniques; 2020 Mar; 68(3):117-121. PubMed ID: 31996009
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.