BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 34377682)

  • 1. First report of the cystic fibrosis transmembrane conductance regulator mutation c.1521_1523delCTT (p. Phe508del) in two Qatari patients with cystic fibrosis.
    AbdulWahab A; AlNaimi A; Habra B; Janahi I
    Qatar Med J; 2021; 2021(1):24. PubMed ID: 34377682
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lumacaftor/ivacaftor combination for cystic fibrosis patients homozygous for Phe508del-CFTR.
    Zhang W; Zhang X; Zhang YH; Strokes DC; Naren AP
    Drugs Today (Barc); 2016 Apr; 52(4):229-37. PubMed ID: 27252987
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.
    Banjar H; Al-Mogarri I; Nizami I; Al-Haider S; AlMaghamsi T; Alkaf S; Al-Enazi A; Moghrabi N
    Int J Pediatr Adolesc Med; 2021 Mar; 8(1):25-28. PubMed ID: 33718573
    [TBL] [Abstract][Full Text] [Related]  

  • 4. VX-445-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.
    Keating D; Marigowda G; Burr L; Daines C; Mall MA; McKone EF; Ramsey BW; Rowe SM; Sass LA; Tullis E; McKee CM; Moskowitz SM; Robertson S; Savage J; Simard C; Van Goor F; Waltz D; Xuan F; Young T; Taylor-Cousar JL;
    N Engl J Med; 2018 Oct; 379(17):1612-1620. PubMed ID: 30334692
    [TBL] [Abstract][Full Text] [Related]  

  • 5. VX-659-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.
    Davies JC; Moskowitz SM; Brown C; Horsley A; Mall MA; McKone EF; Plant BJ; Prais D; Ramsey BW; Taylor-Cousar JL; Tullis E; Uluer A; McKee CM; Robertson S; Shilling RA; Simard C; Van Goor F; Waltz D; Xuan F; Young T; Rowe SM;
    N Engl J Med; 2018 Oct; 379(17):1599-1611. PubMed ID: 30334693
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Changing incidence of cystic fibrosis in Wisconsin, USA.
    Parker-McGill K; Nugent M; Bersie R; Hoffman G; Rock M; Baker M; Farrell PM; Simpson P; Levy H
    Pediatr Pulmonol; 2015 Nov; 50(11):1065-1072. PubMed ID: 26258862
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cystic fibrosis mutation I1234V in a Qatari lady.
    Wahab AA
    J Trop Pediatr; 2003 Feb; 49(1):54-5. PubMed ID: 12630722
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Reappraisal of Frequency of Common Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Iranian Cystic Fibrosis Patients.
    Khalilzadeh S; Hassanzad M; PourAbdollah Toutkaboni M; Tashayoie Nejad S; Sheikholeslami FM; Velayati AA
    Tanaffos; 2018 Feb; 17(2):73-81. PubMed ID: 30627177
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Implication of the cystic fibrosis transmembrane conductance regulator gene in infertile family members of Indian CF patients.
    Sharma N; Singh M; Acharya N; Singh SK; Thapa BR; Kaur G; Prasad R
    Biochem Genet; 2008 Dec; 46(11-12):847-56. PubMed ID: 18810634
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Morbidity and mortality in carriers of the cystic fibrosis mutation
    Çolak Y; Nordestgaard BG; Afzal S
    Eur Respir J; 2020 Sep; 56(3):. PubMed ID: 32398304
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Effects of Lumacaftor-Ivacaftor Therapy on Cystic Fibrosis Transmembrane Conductance Regulator Function in Phe508del Homozygous Patients with Cystic Fibrosis.
    Graeber SY; Dopfer C; Naehrlich L; Gyulumyan L; Scheuermann H; Hirtz S; Wege S; Mairbäurl H; Dorda M; Hyde R; Bagheri-Hanson A; Rueckes-Nilges C; Fischer S; Mall MA; Tümmler B
    Am J Respir Crit Care Med; 2018 Jun; 197(11):1433-1442. PubMed ID: 29327948
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.
    Farrell P; Férec C; Macek M; Frischer T; Renner S; Riss K; Barton D; Repetto T; Tzetis M; Giteau K; Duno M; Rogers M; Levy H; Sahbatou M; Fichou Y; Le Maréchal C; Génin E
    Eur J Hum Genet; 2018 Dec; 26(12):1832-1839. PubMed ID: 30089827
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Long-term safety and efficacy of tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study.
    Flume PA; Biner RF; Downey DG; Brown C; Jain M; Fischer R; De Boeck K; Sawicki GS; Chang P; Paz-Diaz H; Rubin JL; Yang Y; Hu X; Pasta DJ; Millar SJ; Campbell D; Wang X; Ahluwalia N; Owen CA; Wainwright CE;
    Lancet Respir Med; 2021 Jul; 9(7):733-746. PubMed ID: 33581080
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions.
    Hammoudeh S; Gadelhak W; AbdulWahab A; Al-Langawi M; Janahi IA
    Multidiscip Respir Med; 2019; 14():29. PubMed ID: 31583102
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
    Baatallah N; Bitam S; Martin N; Servel N; Costes B; Mekki C; Chevalier B; Pranke I; Simonin J; Girodon E; Hoffmann B; Mornon JP; Callebaut I; Sermet-Gaudelus I; Fanen P; Edelman A; Hinzpeter A
    Hum Mutat; 2018 Apr; 39(4):506-514. PubMed ID: 29271547
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Evaluation of eluforsen, a novel RNA oligonucleotide for restoration of CFTR function in in vitro and murine models of p.Phe508del cystic fibrosis.
    Beumer W; Swildens J; Leal T; Noel S; Anthonijsz H; van der Horst G; Kuiperij-Boersma H; Potman M; van Putten C; Biasutto P; Platenburg G; de Jonge H; Henig N; Ritsema T
    PLoS One; 2019; 14(6):e0219182. PubMed ID: 31251792
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
    Wainwright CE; Elborn JS; Ramsey BW; Marigowda G; Huang X; Cipolli M; Colombo C; Davies JC; De Boeck K; Flume PA; Konstan MW; McColley SA; McCoy K; McKone EF; Munck A; Ratjen F; Rowe SM; Waltz D; Boyle MP; ;
    N Engl J Med; 2015 Jul; 373(3):220-31. PubMed ID: 25981758
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.