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 *

327 related articles for article (PubMed ID: 9565413)

  • 1. Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement.
    Parad RB
    Pediatrics; 1998 May; 101(5):851-5. PubMed ID: 9565413
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.
    Comeau AM; Parad RB; Dorkin HL; Dovey M; Gerstle R; Haver K; Lapey A; O'Sullivan BP; Waltz DA; Zwerdling RG; Eaton RB
    Pediatrics; 2004 Jun; 113(6):1573-81. PubMed ID: 15173476
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The diagnosis of cystic fibrosis.
    De Boeck K; Vermeulen F; Dupont L
    Presse Med; 2017 Jun; 46(6 Pt 2):e97-e108. PubMed ID: 28576637
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
    Ahn KM; Park HY; Lee JH; Lee MG; Kim JH; Kang IJ; Lee SI
    J Korean Med Sci; 2005 Feb; 20(1):153-7. PubMed ID: 15716623
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm.
    Parad RB; Comeau AM
    J Pediatr; 2005 Sep; 147(3 Suppl):S78-82. PubMed ID: 16202789
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
    Salinas DB; Sosnay PR; Azen C; Young S; Raraigh KS; Keens TG; Kharrazi M
    PLoS One; 2016; 11(5):e0155624. PubMed ID: 27214204
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.
    Ratkiewicz M; Pastore M; McCoy KS; Thompson R; Hayes D; Sheikh SI
    World J Pediatr; 2017 Apr; 13(2):129-135. PubMed ID: 28194692
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations.
    Padoan R; Bassotti A; Seia M; Corbetta C
    Eur J Pediatr; 2002 Apr; 161(4):212-5. PubMed ID: 12014388
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.
    Sermet-Gaudelus I; Girodon E; Roussel D; Deneuville E; Bui S; Huet F; Guillot M; Aboutaam R; Renouil M; Munck A; des Georges M; Iron A; Thauvin-Robinet C; Fajac I; Lenoir G; Roussey M; Edelman A
    Thorax; 2010 Jun; 65(6):539-44. PubMed ID: 20522854
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening.
    Sermet-Gaudelus I; Roussel D; Bui S; Deneuville E; Huet F; Reix P; Bellon G; Lenoir G; Edelman A
    BMC Pediatr; 2006 Oct; 6():25. PubMed ID: 17018149
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A survey of newborn screening for cystic fibrosis in Europe.
    Southern KW; Munck A; Pollitt R; Travert G; Zanolla L; Dankert-Roelse J; Castellani C;
    J Cyst Fibros; 2007 Jan; 6(1):57-65. PubMed ID: 16870510
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. [Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis].
    Sermet-Gaudelus I; Brouard J; Audrézet MP; Couderc Kohen L; Weiss L; Wizla N; Vrielynck S; LLerena K; Le Bourgeois M; Deneuville E; Remus N; Nguyen-Khoa T; Raynal C; Roussey M; Girodon E
    Arch Pediatr; 2017 Apr; 24(4):401-414. PubMed ID: 28258861
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator.
    Bennett LC; Kraemer R; Liechti-Gallati S
    Eur J Pediatr; 2000; 159(1-2):99-102. PubMed ID: 10653340
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnosis of cystic fibrosis in the kindred of an infant with CFTR-related metabolic syndrome: importance of follow-up that includes monitoring sweat chloride concentrations over time.
    Williams SN; Nussbaum E; Chin TW; Do PC; Singh KE; Randhawa I
    Pediatr Pulmonol; 2014 Mar; 49(3):E103-8. PubMed ID: 24535988
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome.
    Ren CL; Desai H; Platt M; Dixon M
    Pediatr Pulmonol; 2011 Nov; 46(11):1079-84. PubMed ID: 21538969
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.