These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

418 related articles for article (PubMed ID: 25456745)

  • 1. Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
    Cao YY; Qu YJ; Song F; Zhang T; Bai JL; Jin YW; Wang H
    Mol Genet Metab; 2014 Dec; 113(4):261-6. PubMed ID: 25456745
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].
    Cao Y; Qu Y; Song F; Bai J; Jin Y; Wang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):16-20. PubMed ID: 25636092
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.
    Millat G; Chanavat V; Rousson R
    Clin Chim Acta; 2014 Jun; 433():266-71. PubMed ID: 24721642
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation analysis in hyperphenylalaninemia patients from South Italy.
    Trunzo R; Santacroce R; D'Andrea G; Longo V; De Girolamo G; Dimatteo C; Leccese A; Lillo V; Papadia F; Margaglione M
    Clin Biochem; 2013 Dec; 46(18):1896-8. PubMed ID: 23792259
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
    Faiz F; Allcock RJ; Hooper AJ; van Bockxmeer FM
    Atherosclerosis; 2013 Oct; 230(2):249-55. PubMed ID: 24075752
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next-generation sequencing of human opioid receptor genes based on a custom AmpliSeq™ library and ion torrent personal genome machine.
    Kringel D; Lötsch J
    Clin Chim Acta; 2016 Dec; 463():32-38. PubMed ID: 27725223
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.
    Gu Y; Lu K; Yang G; Cen Z; Yu L; Lin L; Hao J; Yang Z; Peng J; Cui S; Huang J
    PLoS One; 2014; 9(4):e94100. PubMed ID: 24705691
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
    Chaiyasap P; Ittiwut C; Srichomthong C; Sangsin A; Suphapeetiporn K; Shotelersuk V
    BMC Med Genet; 2017 Sep; 18(1):102. PubMed ID: 28915855
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
    Trujillano D; Perez B; González J; Tornador C; Navarrete R; Escaramis G; Ossowski S; Armengol L; Cornejo V; Desviat LR; Ugarte M; Estivill X
    Eur J Hum Genet; 2014 Apr; 22(4):528-34. PubMed ID: 23942198
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
    Daniele A; Cardillo G; Pennino C; Carbone MT; Scognamiglio D; Correra A; Pignero A; Castaldo G; Salvatore F
    Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.
    Del Orbe Barreto R; Arrizabalaga B; De la Hoz AB; García-Orad Á; Tejada MI; Garcia-Ruiz JC; Fidalgo T; Bento C; Manco L; Ribeiro ML
    Int J Lab Hematol; 2016 Dec; 38(6):629-638. PubMed ID: 27427187
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
    Zanella I; Merola F; Biasiotto G; Archetti S; Spinelli E; Di Lorenzo D
    Exp Mol Pathol; 2017 Apr; 102(2):314-320. PubMed ID: 28263838
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Characteristics of gene variants among patients with hyperphenylalaninemia from Quanzhou region of Fujian province].
    Su R; Zhu L; Lin Y; Zhu J; Zheng F; Fu Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Nov; 36(11):1062-1066. PubMed ID: 31703126
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
    Kuznetcova I; Gundorova P; Ryzhkova O; Polyakov A
    Metab Brain Dis; 2019 Dec; 34(6):1547-1555. PubMed ID: 31332730
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Screening and mutation analysis of hyperphenylalaninemia in newborns from Xiamen, China.
    Wang X; He Y; Jiang Y; Feng X; Zhang G; Xia Z; Zhou Y
    Clin Chim Acta; 2019 Nov; 498():161-166. PubMed ID: 31445982
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.
    Hassan SM; Vossen RH; Chessa R; den Dunnen JT; Bakker E; Giordano PC; Harteveld CL
    Blood Cells Mol Dis; 2014 Sep; 53(3):133-7. PubMed ID: 24880717
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
    Millat G; Chanavat V; Rousson R
    Mol Diagn Ther; 2014 Oct; 18(5):533-9. PubMed ID: 24687331
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
    Groselj U; Tansek MZ; Kovac J; Hovnik T; Podkrajsek KT; Battelino T
    Mol Genet Metab; 2012 Jun; 106(2):142-8. PubMed ID: 22513348
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
    Eisensmith RC; Martinez DR; Kuzmin AI; Goltsov AA; Brown A; Singh R; Elsas LJ II; Woo SL
    Pediatrics; 1996 Apr; 97(4):512-6. PubMed ID: 8632937
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Establishing the Ion Torrent PGM Sequencing Methods for the Clinical Diagnosis of MPN Patients].
    Huang JX; Li YL; Xu N; Yin CX; Zhou X; Pan CY; He BL; Lu ZY; Liu QF; Liu XL
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2017 Dec; 25(6):1744-1750. PubMed ID: 29262909
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.