283 related articles for article (PubMed ID: 29589582)
1. Spectrum of CFTR gene sequence variants in a northern Portugal population.
Grangeia A; Alves S; Gonçalves L; Gregório I; Santos AC; Barros H; Barros A; Carvalho F; Moura C
Pulmonology; 2018; 24(1):3-9. PubMed ID: 29589582
[TBL] [Abstract][Full Text] [Related]
2. Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.
Bergougnoux A; Délétang K; Pommier A; Varilh J; Houriez F; Altieri JP; Koenig M; Férec C; Claustres M; Lalau G; Bienvenu T; Audrézet MP; Pagin A; Girodon E; Raynal C; Taulan-Cadars M
J Cyst Fibros; 2019 Jul; 18(4):468-475. PubMed ID: 30389601
[TBL] [Abstract][Full Text] [Related]
3. DNA sequencing analysis of cystic fibrosis transmembrane conductance regulator gene identifies cystic fibrosis-associated variants in the Severe Asthma Research Program.
Izquierdo ME; Marion CR; Moore WC; Raraigh KS; Taylor-Cousar JL; Cutting GR; Ampleford E; Hawkins GA; Zein J; Castro M; Denlinger LC; Erzurum SC; Fahy JV; Israel E; Jarjour NN; Mauger D; Levy BD; Wenzel SE; Woodruff P; Bleecker ER; Meyers DA; Ortega VE
Pediatr Pulmonol; 2022 Jul; 57(7):1782-1788. PubMed ID: 35451201
[TBL] [Abstract][Full Text] [Related]
4. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.
Mutesa L; Azad AK; Verhaeghe C; Segers K; Vanbellinghen JF; Ngendahayo L; Rusingiza EK; Mutwa PR; Rulisa S; Koulischer L; Cassiman JJ; Cuppens H; Bours V
Chest; 2009 May; 135(5):1233-1242. PubMed ID: 19017867
[TBL] [Abstract][Full Text] [Related]
5. Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
Petrova NV; Kashirskaya NY; Saydaeva DK; Polyakov AV; Adyan TA; Simonova OI; Gorinova YV; Kondratyeva EI; Sherman VD; Novoselova OG; Vasilyeva TA; Marakhonov AV; Macek M; Ginter EK; Zinchenko RA
BMC Med Genet; 2019 Mar; 20(1):44. PubMed ID: 30898088
[TBL] [Abstract][Full Text] [Related]
6. Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping.
Molina M; Yoldi A; Navas P; Gañán M; Vaquero Á; Del Pico JL; Ramírez JP; Castilla JA
Fertil Steril; 2020 Sep; 114(3):524-534. PubMed ID: 32773111
[TBL] [Abstract][Full Text] [Related]
7. Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
Hannah WB; Truty R; Gonzales V; Kithcart GP; Ouyang K; Zeman MK; Li C; Drumm M; Nykamp K; Gaston BM
J Pediatr; 2019 Dec; 215():172-177.e2. PubMed ID: 31610925
[TBL] [Abstract][Full Text] [Related]
8. Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E; Tilocca B; Lombardi C; De Bonis M; Concolino P; Onori ME; Ricciardi Tenore C; Perrucci A; Roncada P; Capoluongo E; Urbani A; Minucci A; Santonocito C
Genes (Basel); 2023 Aug; 14(8):. PubMed ID: 37628659
[TBL] [Abstract][Full Text] [Related]
9. Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia.
Fredj SH; Messaoud T; Templin C; des Georges M; Fattoum S; Claustres M
Genet Test Mol Biomarkers; 2009 Oct; 13(5):577-81. PubMed ID: 19715466
[TBL] [Abstract][Full Text] [Related]
10. Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions.
Rispoli T; Rodrigues GM; Prado MJ; Pinto LA; Rodrigues MT; Dullius CR; Grandi T; da Silva CMD; Vargas JE; Rigo MM; Rossetti ML
Mol Biol Rep; 2020 Aug; 47(8):6463-6469. PubMed ID: 32712854
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.
Mohseni M; Razzaghmanesh M; Parsi Mehr E; Zare H; Beheshtian M; Najmabadi H
Iran Biomed J; 2016 Sep; 20(4):201-6. PubMed ID: 27017198
[TBL] [Abstract][Full Text] [Related]
13. Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Banjar HH; Tuleimat L; El Seoudi AAA; Mogarri I; Alhaider S; Nizami IY; AlMaghamsi T; Alkaf SA; Moghrabi N
Ann Saudi Med; 2020; 40(1):15-24. PubMed ID: 32026723
[TBL] [Abstract][Full Text] [Related]
14. Incidence and Carrier Frequency of CFTR Gene Mutations in Pregnancies With Echogenic Bowel in Nova Scotia and Prince Edward Island.
Miller ME; Allen VM; Brock JK
J Obstet Gynaecol Can; 2018 Jul; 40(7):896-902. PubMed ID: 29503250
[TBL] [Abstract][Full Text] [Related]
15. A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.
Kerem E; Rave-Harel N; Augarten A; Madgar I; Nissim-Rafinia M; Yahav Y; Goshen R; Bentur L; Rivlin J; Aviram M; Genem A; Chiba-Falek O; Kraemer MR; Simon A; Branski D; Kerem B
Am J Respir Crit Care Med; 1997 Jun; 155(6):1914-20. PubMed ID: 9196095
[TBL] [Abstract][Full Text] [Related]
16. Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families.
Loumi O; Baghriche M; Delpech M; Kaplan JC; Bienvenu T
Hum Hered; 1999 Mar; 49(2):81-4. PubMed ID: 10077727
[TBL] [Abstract][Full Text] [Related]
17. Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.
Sharma H; Mavuduru RS; Singh SK; Prasad R
Mol Hum Reprod; 2014 Sep; 20(9):827-35. PubMed ID: 24958810
[TBL] [Abstract][Full Text] [Related]
18. Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C; Galindo-Ramírez R; Vázquez-Cantú M; Haddad-Talancón L; García-Muñoz W
BMC Med Genomics; 2021 Nov; 14(1):262. PubMed ID: 34740355
[TBL] [Abstract][Full Text] [Related]
19. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
Rosendahl J; Landt O; Bernadova J; Kovacs P; Teich N; Bödeker H; Keim V; Ruffert C; Mössner J; Kage A; Stumvoll M; Groneberg D; Krüger R; Luck W; Treiber M; Becker M; Witt H
Gut; 2013 Apr; 62(4):582-92. PubMed ID: 22427236
[TBL] [Abstract][Full Text] [Related]
20. Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing.
Ruiz-Cabezas JC; Barros F; Sobrino B; García G; Burgos R; Farhat C; Castro A; Muñoz L; Zambrano AK; Martínez M; Montalván M; Paz-Y-Miño C
Gene; 2019 May; 696():28-32. PubMed ID: 30763667
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
