BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

207 related articles for article (PubMed ID: 27753022)

  • 21. 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]  

  • 22. Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.
    Hayward J; Chitty LS
    Semin Fetal Neonatal Med; 2018 Apr; 23(2):94-101. PubMed ID: 29305293
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Prenatal exclusion of recessively inherited disorders: should maternal plasma analysis precede invasive techniques?
    Bianchi DW
    Clin Chem; 2002 May; 48(5):689-90. PubMed ID: 11978594
    [No Abstract]   [Full Text] [Related]  

  • 24. 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]  

  • 25. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom.
    Hill M; Karunaratna M; Lewis C; Forya F; Chitty L
    Am J Med Genet A; 2013 Jul; 161A(7):1612-8. PubMed ID: 23696422
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
    Baumgartner-Parzer SM; Fischer G; Vierhapper H
    J Clin Endocrinol Metab; 2007 Mar; 92(3):1164-7. PubMed ID: 17164306
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
    Dubey S; Tardy V; Chowdhury MR; Gupta N; Jain V; Deka D; Sharma P; Morel Y; Kabra M
    Indian J Med Res; 2017 Feb; 145(2):194-202. PubMed ID: 28639595
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.
    Papasavva TE; Lederer CW; Traeger-Synodinos J; Mavrou A; Kanavakis E; Ioannou C; Makariou C; Kleanthous M
    Ann Hum Genet; 2013 Mar; 77(2):115-24. PubMed ID: 23362932
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Non-invasive prenatal diagnosis and screening for monogenic disorders.
    Scotchman E; Shaw J; Paternoster B; Chandler N; Chitty LS
    Eur J Obstet Gynecol Reprod Biol; 2020 Oct; 253():320-327. PubMed ID: 32907778
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB; Turatti W; Elias PC; Elias LL; Martinelli CE; Moreira AC; Antonini SR; de Castro M
    Gene; 2013 Sep; 526(2):239-45. PubMed ID: 23570880
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made.
    Lench N; Barrett A; Fielding S; McKay F; Hill M; Jenkins L; White H; Chitty LS
    Prenat Diagn; 2013 Jun; 33(6):555-62. PubMed ID: 23592512
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.
    Guissart C; Dubucs C; Raynal C; Girardet A; Tran Mau Them F; Debant V; Rouzier C; Boureau-Wirth A; Haquet E; Puechberty J; Bieth E; Dupin Deguine D; Khau Van Kien P; Brechard MP; Pritchard V; Koenig M; Claustres M; Vincent MC
    J Cyst Fibros; 2017 Mar; 16(2):198-206. PubMed ID: 28040480
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A; Yuen T; Al-Malki S; Yau M; Kazmi D; Sun L; Harbison M; Haider S; Zaidi M; New MI
    Ann N Y Acad Sci; 2016 Jan; 1364(1):5-10. PubMed ID: 26291314
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
    Papasavva T; van Ijcken WF; Kockx CE; van den Hout MC; Kountouris P; Kythreotis L; Kalogirou E; Grosveld FG; Kleanthous M
    Eur J Hum Genet; 2013 Dec; 21(12):1403-10. PubMed ID: 23572027
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
    Oh Y; Park SW; Chun SM; Lim N; Ahn KS; Ka JO; Jin DK; Han BD
    Mol Diagn Ther; 2009 Dec; 13(6):397-405. PubMed ID: 19925038
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
    Gruber A; Pacault M; El Khattabi LA; Vaucouleur N; Orhant L; Bienvenu T; Girodon E; Vidaud D; Leturcq F; Costa C; Letourneur F; Anselem O; Tsatsaris V; Goffinet F; Viot G; Vidaud M; Nectoux J
    Clin Chem Lab Med; 2018 Apr; 56(5):728-738. PubMed ID: 29613853
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma.
    Yan TZ; Mo QH; Cai R; Chen X; Zhang CM; Liu YH; Chen YJ; Zhou WJ; Xiong F; Xu XM
    PLoS One; 2011; 6(9):e24779. PubMed ID: 21980356
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Non-invasive prenatal diagnosis: progress and potential.
    Daley R; Hill M; Chitty LS
    Arch Dis Child Fetal Neonatal Ed; 2014 Sep; 99(5):F426-30. PubMed ID: 24786470
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Non-invasive Prenatal Testing Using Fetal DNA.
    Breveglieri G; D'Aversa E; Finotti A; Borgatti M
    Mol Diagn Ther; 2019 Apr; 23(2):291-299. PubMed ID: 30712216
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.