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 *

166 related articles for article (PubMed ID: 22468138)

  • 1. Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing.
    Elliott AM; Radecki J; Moghis B; Li X; Kammesheidt A
    J Biomol Tech; 2012 Apr; 23(1):24-30. PubMed ID: 22468138
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A comprehensive assay for CFTR mutational analysis using next-generation sequencing.
    Abou Tayoun AN; Tunkey CD; Pugh TJ; Ross T; Shah M; Lee CC; Harkins TT; Wells WA; Tafe LJ; Amos CI; Tsongalis GJ
    Clin Chem; 2013 Oct; 59(10):1481-8. PubMed ID: 23775370
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform.
    Deeb KK; Metcalf JD; Sesock KM; Shen J; Wensel CA; Rippel LI; Smith M; Chapman MS; Zhang S
    J Mol Diagn; 2015 Jul; 17(4):360-5. PubMed ID: 25956447
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
    Sugarman EA; Rohlfs EM; Silverman LM; Allitto BA
    Genet Med; 2004; 6(5):392-9. PubMed ID: 15371903
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.
    Loukas YL; Thodi G; Molou E; Georgiou V; Dotsikas Y; Schulpis KH
    Scand J Clin Lab Invest; 2015 Sep; 75(5):374-81. PubMed ID: 25874479
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.
    Svensson AM; Chou LS; Miller CE; Robles JA; Swensen JJ; Voelkerding KV; Mao R; Lyon E
    Genet Test Mol Biomarkers; 2010 Apr; 14(2):171-4. PubMed ID: 20059381
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A simple, fast and inexpensive method for mutation scanning of CFTR gene.
    Figueredo Lago JE; Armas Cayarga A; González González YJ; Collazo Mesa T
    BMC Med Genet; 2017 May; 18(1):58. PubMed ID: 28545452
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
    Alibakhshi R; Kianishirazi R; Cassiman JJ; Zamani M; Cuppens H
    J Cyst Fibros; 2008 Mar; 7(2):102-9. PubMed ID: 17662673
    [TBL] [Abstract][Full Text] [Related]  

  • 9. mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.
    Felício V; Ramalho AS; Igreja S; Amaral MD
    Clin Genet; 2017 Mar; 91(3):476-481. PubMed ID: 27174726
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.
    Comeau AM; Parad RB; Dorkin HL; Dovey M; Gerstle R; Haver K; Lapey A; O'Sullivan BP; Waltz DA; Zwerdling RG; Eaton RB
    Pediatrics; 2004 Jun; 113(6):1573-81. PubMed ID: 15173476
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.
    Ashavaid TF; Kondkar AA; Dherai AJ; Raghavan R; Udani SV; Udwadia ZF; Desai D
    Mol Diagn; 2005; 9(2):59-66. PubMed ID: 16137181
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A universal array-based multiplexed test for cystic fibrosis carrier screening.
    Amos JA; Bridge-Cook P; Ponek V; Jarvis MR
    Expert Rev Mol Diagn; 2006 Jan; 6(1):15-22. PubMed ID: 16359263
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rapid screening for 31 mutations and polymorphisms in the cystic fibrosis transmembrane conductance regulator gene by Lminex xMAP suspension array.
    Dunbar SA; Jacobson JW
    Methods Mol Med; 2005; 114():147-71. PubMed ID: 16156102
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Evaluation of a BeadXpress assay for a 151-mutation and variant CFTR screening panel after 11,000 samples: implications for practice.
    Stoerker J; Goodman TG; Walline HM; Sugalski J; Holland CA
    Diagn Mol Pathol; 2013 Sep; 22(3):144-8. PubMed ID: 23846440
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
    Salinas DB; Sosnay PR; Azen C; Young S; Raraigh KS; Keens TG; Kharrazi M
    PLoS One; 2016; 11(5):e0155624. PubMed ID: 27214204
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.
    Sosnay PR; Salinas DB; White TB; Ren CL; Farrell PM; Raraigh KS; Girodon E; Castellani C
    J Pediatr; 2017 Feb; 181S():S27-S32.e1. PubMed ID: 28129809
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
    Hughes EE; Stevens CF; Saavedra-Matiz CA; Tavakoli NP; Krein LM; Parker A; Zhang Z; Maloney B; Vogel B; DeCelie-Germana J; Kier C; Anbar RD; Berdella MN; Comber PG; Dozor AJ; Goetz DM; Guida L; Kattan M; Ting A; Voter KZ; ; van Roey P; Caggana M; Kay DM
    Hum Mutat; 2016 Feb; 37(2):201-8. PubMed ID: 26538069
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
    McGinniss MJ; Chen C; Redman JB; Buller A; Quan F; Peng M; Giusti R; Hantash FM; Huang D; Sun W; Strom CM
    Hum Genet; 2005 Dec; 118(3-4):331-8. PubMed ID: 16189704
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular Diagnosis of Cystic Fibrosis.
    Deignan JL; Grody WW
    Curr Protoc Hum Genet; 2016 Jan; 88():9.28.1-9.28.6. PubMed ID: 26724724
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology.
    Lucarelli M; Porcaro L; Biffignandi A; Costantino L; Giannone V; Alberti L; Bruno SM; Corbetta C; Torresani E; Colombo C; Seia M
    J Mol Diagn; 2017 Sep; 19(5):788-800. PubMed ID: 28736296
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.