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 *

80 related articles for article (PubMed ID: 1950757)

  • 21. Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays.
    Viel M; Leroy C; Des Georges M; Claustres M; Bienvenu T
    Eur J Hum Genet; 2005 Feb; 13(2):136-8. PubMed ID: 15562283
    [No Abstract]   [Full Text] [Related]  

  • 22. Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population.
    Glavac D; Ravnik-Glavac M; Dean M
    Hum Mol Genet; 1993 Mar; 2(3):315-6. PubMed ID: 7684643
    [No Abstract]   [Full Text] [Related]  

  • 23. Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation.
    Boyne J; Evans S; Pollitt RJ; Taylor CJ; Dalton A
    J Med Genet; 2000 Jul; 37(7):543-7. PubMed ID: 10970190
    [No Abstract]   [Full Text] [Related]  

  • 24. Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.
    Macek M; Hamosh A; Kiesewetter S; McIntosh I; Rosenstein BJ; Cutting GR
    Hum Mutat; 1992; 1(6):501-2. PubMed ID: 1284542
    [No Abstract]   [Full Text] [Related]  

  • 25. A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
    Schloesser M; Arleth S; Lenz U; Bertele RM; Reiss J
    J Med Genet; 1991 Dec; 28(12):878-80. PubMed ID: 1757966
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis.
    Rabbi-Bortolini E; Bernardino AL; Lopes AL; Ferri AS; Passos-Bueno MR; Zatz M
    Am J Med Genet; 1998 Apr; 76(4):288-90. PubMed ID: 9545091
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes.
    Nunes V; Casals T; Gaona A; Antiñolo G; Ferrer-Calvete J; Pérez-Frias J; Tardío E; Molano J; Estivill X
    Hum Mutat; 1992; 1(5):375-9. PubMed ID: 1284539
    [TBL] [Abstract][Full Text] [Related]  

  • 28. First report of CFTR mutations in black cystic fibrosis patients of southern African origin.
    Carles S; Desgeorges M; Goldman A; Thiart R; Guittard C; Kitazos CA; de Ravel TJ; Westwood AT; Claustres M; Ramsay M
    J Med Genet; 1996 Sep; 33(9):802-4. PubMed ID: 8880589
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.
    Crawford J; Labrinidis A; Carey WF; Nelson PV; Harvey JS; Morris CP
    Hum Mutat; 1995; 5(1):101-2. PubMed ID: 7537147
    [No Abstract]   [Full Text] [Related]  

  • 30. Compound heterozygotes for a CF mutation and the 5T splice variant associated with variable presentations in a French family.
    Bienvenu T; Lepercq J; Allard JP; Hubert D; Francoual C; Beldjord C; Kaplan JC
    Ann Genet; 1998; 41(1):63-4. PubMed ID: 9599654
    [No Abstract]   [Full Text] [Related]  

  • 31. Active cascade testing for carriers of cystic fibrosis gene.
    Super M; Schwarz MJ; Malone G; Roberts T; Haworth A; Dermody G
    BMJ; 1994 Jun; 308(6942):1462-7. PubMed ID: 8019278
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].
    Iwańczak F; Smigiel R; Stawarski A; Pawłowicz J; Stembalska A; Mowszet K; Sasiadek M
    Pol Merkur Lekarski; 2005 Feb; 18(104):205-9. PubMed ID: 17877132
    [TBL] [Abstract][Full Text] [Related]  

  • 33. delta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.
    Constantinou-Deltas CD; Georgiou C; Ioannou P; Angastiniotis M; Aristodemou E
    Hum Mutat; 1992; 1(6):503-5. PubMed ID: 1284543
    [No Abstract]   [Full Text] [Related]  

  • 34. [The correlation between the genotype and the clinical expression of cystic fibrosis].
    Lucidi V; Novelli G; Castro M; Sangiuolo F; Papadatou B; Ferretti F; Orrù M; Dallapiccola B
    Pediatr Med Chir; 1992; 14(5):513-5. PubMed ID: 1488308
    [TBL] [Abstract][Full Text] [Related]  

  • 35. CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening.
    Lakeman P; Gille JJ; Dankert-Roelse JE; Heijerman HG; Munck A; Iron A; Grasemann H; Schuster A; Cornel MC; Ten Kate LP
    Genet Test; 2008 Mar; 12(1):25-35. PubMed ID: 18373402
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil.
    Cabello GM; Moreira AF; Horovitz D; Correia P; Santa Rosa A; Llerena J; Greg J; Grody WW; Degrave WM; Fernandes O; Cabello PH
    Hum Biol; 1999 Apr; 71(2):189-96. PubMed ID: 10222642
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
    Kilinç MO; Ninis VN; Tolun A; Estivill X; Casals T; Savov A; Dagli E; Karakoç F; Demirkol M; Hüner G; Ozkinay F; Demir E; Seculi JL; Pena J; Bousono C; Ferrer-Calvete J; Calvo C; Glover G; Kremenski I
    J Med Genet; 2000 Apr; 37(4):307-9. PubMed ID: 10819640
    [No Abstract]   [Full Text] [Related]  

  • 39. Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis.
    Rozen R; De Braekeleer M; Daigneault J; Ferreira-Rajabi L; Gerdes M; Lamoureux L; Aubin G; Simard F; Fujiwara TM; Morgan K
    Am J Med Genet; 1992 Feb; 42(3):360-4. PubMed ID: 1536179
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Genotype analysis of adult cystic fibrosis patients.
    Férec C; Verlingue C; Guillermit H; Quéré I; Raguénès O; Feigelson J; Audrézet MP; Moullier P; Mercier B
    Hum Mol Genet; 1993 Oct; 2(10):1557-60. PubMed ID: 7505690
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 4.