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 *

106 related articles for article (PubMed ID: 14613688)

  • 21. Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.
    Lin CJ; Chang SP; Ke YY; Chiu HY; Tsao LY; Chen M
    Pediatr Neonatol; 2008 Dec; 49(6):240-4. PubMed ID: 19166122
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Refining the continuum of CFTR-associated disorders in the era of newborn screening.
    Levy H; Nugent M; Schneck K; Stachiw-Hietpas D; Laxova A; Lakser O; Rock M; Dahmer MK; Biller J; Nasr SZ; Baker M; McColley SA; Simpson P; Farrell PM
    Clin Genet; 2016 May; 89(5):539-49. PubMed ID: 26671754
    [TBL] [Abstract][Full Text] [Related]  

  • 23. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
    Kerem E; Corey M; Kerem BS; Rommens J; Markiewicz D; Levison H; Tsui LC; Durie P
    N Engl J Med; 1990 Nov; 323(22):1517-22. PubMed ID: 2233932
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prevalence of cystic fibrosis mutations in the East German population.
    Coutelle C; Brückner R; Grade K; Behrens F; Gedschold J; Hein J; Szibor R; Bauer I; Brock J; Graupner I
    Hum Mutat; 1992; 1(2):109-12. PubMed ID: 1301197
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation.
    Sermet-Gaudelus I; Vallée B; Urbin I; Torossi T; Marianovski R; Fajac A; Feuillet MN; Bresson JL; Lenoir G; Bernaudin JF; Edelman A
    Pediatr Res; 2002 Nov; 52(5):628-35. PubMed ID: 12409506
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genotype and phenotype in cystic fibrosis.
    Zielenski J
    Respiration; 2000; 67(2):117-33. PubMed ID: 10773783
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Delta F508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population.
    Lester LA; Kraut J; Lloyd-Still J; Karrison T; Mott C; Billstrand C; Lemke A; Ober C
    Pediatrics; 1994 Jan; 93(1):114-8. PubMed ID: 7505422
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. [Clinical and molecular genetic study of cystic fibrosis in the 5th Region of Chile].
    Molina G; González FJ; Cave R; Cornejo de M; Navarro S; Deglin M; Milinarsky A; Carvallo de P
    Rev Med Chil; 2002 Aug; 130(8):850-8. PubMed ID: 12360792
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene.
    Greil I; Wagner K; Eber E; Zach M; Rosenkranz W
    Wien Klin Wochenschr; 1995; 107(15):464-9. PubMed ID: 7545856
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
    Terlizzi V; Castaldo G; Salvatore D; Lucarelli M; Raia V; Angioni A; Carnovale V; Cirilli N; Casciaro R; Colombo C; Di Lullo AM; Elce A; Iacotucci P; Comegna M; Scorza M; Lucidi V; Perfetti A; Cimino R; Quattrucci S; Seia M; Sofia VM; Zarrilli F; Amato F
    J Med Genet; 2017 Apr; 54(4):224-235. PubMed ID: 27738188
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.
    Claustres M; Desgeorges M; Kjellberg P; Tissot C; Demaille J
    Hum Genet; 1992 Dec; 90(4):464-6. PubMed ID: 1483707
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.
    Wilschanski M; Zielenski J; Markiewicz D; Tsui LC; Corey M; Levison H; Durie PR
    J Pediatr; 1995 Nov; 127(5):705-10. PubMed ID: 7472820
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland].
    Witt M; Pogorzelski A; Bal J; Rutkiewicz E; Majka L; Sobczyńska A
    Pneumonol Alergol Pol; 1999; 67(3-4):137-41. PubMed ID: 10497446
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis.
    Bienvenu T; Sermet-Gaudelus I; Burgel PR; Hubert D; Crestani B; Bassinet L; Dusser D; Fajac I
    Am J Respir Crit Care Med; 2010 May; 181(10):1078-84. PubMed ID: 20167849
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutation analysis in the diagnosis of cystic fibrosis.
    Deufel T; Rabe H; Wieser T; Meitinger T; Rosenecker J; Bertele-Harms R; Harms K; Hadorn HB; Roscher AA
    Eur J Pediatr; 1993 Nov; 152(11):909-11. PubMed ID: 8276021
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course.
    Poller W; Faber JP; Scholz S; Olek K; Müller KM
    Klin Wochenschr; 1991 Sep; 69(14):657-63. PubMed ID: 1749205
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.
    Sereth H; Shoshani T; Bashan N; Kerem BS
    Hum Genet; 1993 Oct; 92(3):289-95. PubMed ID: 7691712
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Screening for cystic fibrosis: the importance of using the correct tools.
    Shah U; Moatter T
    J Ayub Med Coll Abbottabad; 2006; 18(1):7-10. PubMed ID: 16773960
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.