BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

322 related articles for article (PubMed ID: 10401194)

  • 1. Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G).
    Frossard PM; Bakalinova D; Hertecant J; Bossaert Y; Dawson KP
    J Trop Pediatr; 1999 Jun; 45(3):158-60. PubMed ID: 10401194
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R(T-->G).
    Frossard PM; Hertecant J; Bossaert Y; Dawson KP
    Eur Respir J; 1999 Jan; 13(1):100-2. PubMed ID: 10836331
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G).
    Dawson KP; Frossard PM; Al-Awar B
    East Mediterr Health J; 2001 Nov; 7(6):975-80. PubMed ID: 15332739
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.
    Romey MC; Guittard C; Chazalette JP; Frossard P; Dawson KP; Patton MA; Casals T; Bazarbachi T; Girodon E; Rault G; Bozon D; Seguret F; Demaille J; Claustres M
    Hum Genet; 1999; 105(1-2):145-50. PubMed ID: 10480369
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 3120+1 G-->A: a rare variant in Emirati CF patients.
    Saleheen D; Frossard PM
    J Coll Physicians Surg Pak; 2006 Feb; 16(2):139-40. PubMed ID: 16499810
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [3120+1kbdel8.6kb]+[p.N1303K] genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs.
    Saleheen D; Frossard PM; Girodon E
    J Ayub Med Coll Abbottabad; 2006; 18(3):69-71. PubMed ID: 17348320
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression.
    Romey MC; Pallares-Ruiz N; Mange A; Mettling C; Peytavi R; Demaille J; Claustres M
    J Biol Chem; 2000 Feb; 275(5):3561-7. PubMed ID: 10652351
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [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]  

  • 9. 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]  

  • 10. Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.
    Parad RB
    J Med Genet; 1996 Aug; 33(8):711-3. PubMed ID: 8863168
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.
    Bonadia LC; de Lima Marson FA; Ribeiro JD; Paschoal IA; Pereira MC; Ribeiro AF; Bertuzzo CS
    Gene; 2014 May; 540(2):183-90. PubMed ID: 24583165
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.
    Mekus F; Ballmann M; Bronsveld I; Bijman J; Veeze H; Tümmler B
    Twin Res; 2000 Dec; 3(4):277-93. PubMed ID: 11463149
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
    Ooi CY; Durie PR
    J Cyst Fibros; 2012 Sep; 11(5):355-62. PubMed ID: 22658665
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical presentation of mild cystic fibrosis in a Serbian patient homozygous for the CFTR mutation c.1393-1G>A.
    Nikolic A; Radlovic N; Dinic J; Milosevic K; Radojkovic D
    J Cyst Fibros; 2014 Jan; 13(1):111-3. PubMed ID: 23933162
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and genetic risk factors for cystic fibrosis-related liver disease.
    Wilschanski M; Rivlin J; Cohen S; Augarten A; Blau H; Aviram M; Bentur L; Springer C; Vila Y; Branski D; Kerem B; Kerem E
    Pediatrics; 1999 Jan; 103(1):52-7. PubMed ID: 9917439
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotype.
    Spinelli E; Seia M; Melotti P; Marchina E; Padoan R
    J Cyst Fibros; 2009 Jul; 8(4):282-4. PubMed ID: 19481507
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
    Polineni D; Dang H; Gallins PJ; Jones LC; Pace RG; Stonebraker JR; Commander LA; Krenicky JE; Zhou YH; Corvol H; Cutting GR; Drumm ML; Strug LJ; Boyle MP; Durie PR; Chmiel JF; Zou F; Wright FA; O'Neal WK; Knowles MR
    Am J Respir Crit Care Med; 2018 Jan; 197(1):79-93. PubMed ID: 28853905
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Cystic fibrosis transmembrane conductance regulator (CFTR)-mediated residual chloride secretion does not protect against early chronic Pseudomonas aeruginosa infection in F508del homozygous cystic fibrosis patients.
    Derichs N; Mekus F; Bronsveld I; Bijman J; Veeze HJ; von der Hardt H; Tummler B; Ballmann M
    Pediatr Res; 2004 Jan; 55(1):69-75. PubMed ID: 14605249
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Lung disease associated with the IVS8 5T allele of the CFTR gene.
    Noone PG; Pue CA; Zhou Z; Friedman KJ; Wakeling EL; Ganeshananthan M; Simon RH; Silverman LM; Knowles MR
    Am J Respir Crit Care Med; 2000 Nov; 162(5):1919-24. PubMed ID: 11069835
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.