BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 19710401)

  • 1. Influence of the duplication of CFTR exon 9 and its flanking sequences on diagnosis of cystic fibrosis mutations.
    El-Seedy A; Dudognon T; Bilan F; Pasquet MC; Reboul MP; Iron A; Kitzis A; Ladeveze V
    J Mol Diagn; 2009 Sep; 11(5):488-93. PubMed ID: 19710401
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.
    Mohseni M; Razzaghmanesh M; Parsi Mehr E; Zare H; Beheshtian M; Najmabadi H
    Iran Biomed J; 2016 Sep; 20(4):201-6. PubMed ID: 27017198
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.
    Siryani I; Jama M; Rumman N; Marzouqa H; Kannan M; Lyon E; Hindiyeh M
    PLoS One; 2015; 10(7):e0133890. PubMed ID: 26208274
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.
    El-Seedy A; Pasquet MC; Bienvenu T; Bieth E; Audrezet MP; Kitzis A; Ladeveze V
    J Cyst Fibros; 2013 Jul; 12(4):407-10. PubMed ID: 23261175
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular Diagnostics of Cystic Fibrosis in Serbia: Our Approach to Meet the Diagnostic Challenges.
    Divac Rankov A; Kusic-Tisma J; Ljujic M; Nikolic A; Milosevic K; Vilotijevic Dautovic G; Radojkovic D
    Genet Test Mol Biomarkers; 2020 Apr; 24(4):212-216. PubMed ID: 32286879
    [No Abstract]   [Full Text] [Related]  

  • 7. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Zielenski J; Rozmahel R; Bozon D; Kerem B; Grzelczak Z; Riordan JR; Rommens J; Tsui LC
    Genomics; 1991 May; 10(1):214-28. PubMed ID: 1710598
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.
    El-Seedy A; Pasquet MC; Shafiek H; Morsi T; Kitzis A; Ladevèze V
    Cell Mol Biol (Noisy-le-grand); 2016 Nov; 62(13):21-28. PubMed ID: 28040058
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
    Jung H; Ki CS; Koh WJ; Ahn KM; Lee SI; Kim JH; Ko JS; Seo JK; Cha SI; Lee ES; Kim JW
    Korean J Lab Med; 2011 Jul; 31(3):219-24. PubMed ID: 21779199
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
    Hantash FM; Redman JB; Starn K; Anderson B; Buller A; McGinniss MJ; Quan F; Peng M; Sun W; Strom CM
    Hum Genet; 2006 Mar; 119(1-2):126-36. PubMed ID: 16362824
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.
    Kambouris M; Banjar H; Moggari I; Nazer H; Al-Hamed M; Meyer BF
    Eur J Pediatr; 2000 May; 159(5):303-9. PubMed ID: 10834512
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. [A molecular genetic analysis of the mutations in the exons of the CFTR gene in cystic fibrosis patients in Ukraine].
    Livshyts' LA
    Tsitol Genet; 2000; 34(4):6-9. PubMed ID: 11033850
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.
    Sharma H; Mavuduru RS; Singh SK; Prasad R
    Mol Hum Reprod; 2014 Sep; 20(9):827-35. PubMed ID: 24958810
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.
    Sohn YB; Ko JM; Jang JY; Seong MW; Park SS; Suh DI; Ko JS; Shin CH
    Eur J Med Genet; 2019 Aug; 62(8):103681. PubMed ID: 31136843
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.
    Pagani F; Buratti E; Stuani C; Romano M; Zuccato E; Niksic M; Giglio L; Faraguna D; Baralle FE
    J Biol Chem; 2000 Jul; 275(28):21041-7. PubMed ID: 10766763
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cystic fibrosis mutation frequencies in upstate New York.
    Shrimpton AE; Borowitz D; Swender P
    Hum Mutat; 1997; 10(6):436-42. PubMed ID: 9401006
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.
    Igreja S; Clarke LA; Botelho HM; Marques L; Amaral MD
    Hum Mutat; 2016 Feb; 37(2):209-15. PubMed ID: 26553470
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.
    Erdoğan M; Köse M; Pekcan S; Hangül M; Balta B; Kiraz A; Akıncı Gönen G; Zamani AG; Yıldırım MS; Ramaslı Gürsoy T; Ezgu F; Şişmanlar Eyüpoğlu T; Tana Aslan A
    Balkan Med J; 2021 Nov; 38(6):357-364. PubMed ID: 34860163
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.