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 *

259 related articles for article (PubMed ID: 27148940)

  • 1. Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients.
    Pique L; Graham S; Pearl M; Kharrazi M; Schrijver I
    Genet Med; 2017 Jan; 19(1):36-44. PubMed ID: 27148940
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
    Schrijver I; Pique L; Graham S; Pearl M; Cherry A; Kharrazi M
    J Mol Diagn; 2016 Jan; 18(1):39-50. PubMed ID: 26708955
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
    Sugarman EA; Rohlfs EM; Silverman LM; Allitto BA
    Genet Med; 2004; 6(5):392-9. PubMed ID: 15371903
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
    Hughes EE; Stevens CF; Saavedra-Matiz CA; Tavakoli NP; Krein LM; Parker A; Zhang Z; Maloney B; Vogel B; DeCelie-Germana J; Kier C; Anbar RD; Berdella MN; Comber PG; Dozor AJ; Goetz DM; Guida L; Kattan M; Ting A; Voter KZ; ; van Roey P; Caggana M; Kay DM
    Hum Mutat; 2016 Feb; 37(2):201-8. PubMed ID: 26538069
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection of disease-causing CFTR variants in state newborn screening programs.
    McGarry ME; Ren CL; Wu R; Farrell PM; McColley SA
    Pediatr Pulmonol; 2023 Feb; 58(2):465-474. PubMed ID: 36237137
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.
    McGarry ME; Sciortino S; Graham S; Bishop T; Gibb ER
    Pediatr Pulmonol; 2024 Nov; 59(11):2901-2909. PubMed ID: 38940324
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The CFTR variant profile of Hispanic patients with cystic fibrosis: Impact on access to effective screening, diagnosis, and personalized medicine.
    Januska MN; Marx L; Walker PA; Berdella MN; Langfelder-Schwind E
    J Genet Couns; 2020 Aug; 29(4):607-615. PubMed ID: 32227567
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.
    Kay DM; Sadeghi H; Kier C; Berdella M; DeCelie-Germana JK; Soultan ZN; Goetz DM; Caggana M; Fortner CN; Giusti R; Kaslovsky R; Stevens C; Voter K; Welter JJ; ; Langfelder-Schwind E
    Pediatr Pulmonol; 2024 Jul; 59(7):1952-1961. PubMed ID: 38695616
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis.
    Vaidyanathan S; Trumbull AM; Bar L; Rao M; Yu Y; Sellers ZM
    Genet Med; 2022 Oct; 24(10):2180-2186. PubMed ID: 35857025
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
    Alper OM; Wong LJ; Young S; Pearl M; Graham S; Sherwin J; Nussbaum E; Nielson D; Platzker A; Davies Z; Lieberthal A; Chin T; Shay G; Hardy K; Kharrazi M
    Hum Mutat; 2004 Oct; 24(4):353. PubMed ID: 15365999
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
    Bozdogan ST; Mujde C; Boga I; Sonmezler O; Hanta A; Rencuzogullari C; Ozcan D; Altintas DU; Bisgin A
    Genes (Basel); 2021 Jan; 12(2):. PubMed ID: 33572515
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process.
    Langfelder-Schwind E; Raraigh KS; Parad RB
    J Genet Couns; 2019 Dec; 28(6):1178-1188. PubMed ID: 31550062
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?
    Currier RJ; Sciortino S; Liu R; Bishop T; Alikhani Koupaei R; Feuchtbaum L
    Genet Med; 2017 Oct; 19(10):1159-1163. PubMed ID: 28471435
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Variation in cystic fibrosis newborn screening algorithms in the United States.
    Rehani MR; Marcus MS; Harris AB; Farrell PM; Ren CL
    Pediatr Pulmonol; 2023 Mar; 58(3):927-933. PubMed ID: 36507555
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?
    Scotet V; Audrézet MP; Roussey M; Rault G; Dirou-Prigent A; Journel H; Moisan-Petit V; Storni V; Férec C
    Pediatrics; 2006 Nov; 118(5):e1523-9. PubMed ID: 17015492
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cystic fibrosis carrier screening in a North American population.
    Zvereff VV; Faruki H; Edwards M; Friedman KJ
    Genet Med; 2014 Jul; 16(7):539-46. PubMed ID: 24357848
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cystic fibrosis newborn screening does not delay the identification of cystic fibrosis in children with negative results.
    Maclean JE; Solomon M; Corey M; Selvadurai H
    J Cyst Fibros; 2011 Sep; 10(5):333-7. PubMed ID: 21536503
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
    Bosch B; Bilton D; Sosnay P; Raraigh KS; Mak DYF; Ishiguro H; Gulmans V; Thomas M; Cuppens H; Amaral M; De Boeck K
    J Cyst Fibros; 2017 Jul; 16(4):488-491. PubMed ID: 28233695
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.