127 related articles for article (PubMed ID: 16784904)
1. Highly preferential association of NonF508del CF mutations with the M470 allele.
Ciminelli BM; Bonizzato A; Bombieri C; Pompei F; Gabaldo M; Ciccacci C; Begnini A; Holubova A; Zorzi P; Piskackova T; Macek M; Castellani C; Modiano G; Pignatti PF
J Cyst Fibros; 2007 Jan; 6(1):15-22. PubMed ID: 16784904
[TBL] [Abstract][Full Text] [Related]
2. Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.
Nefzi M; Hadj Fredj S; Tebib N; Barsaoui S; Boussetta K; Siala H; Messaoud T
Pathol Biol (Paris); 2015 Sep; 63(4-5):169-74. PubMed ID: 26358851
[TBL] [Abstract][Full Text] [Related]
3. CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.
Chávez-Saldaña M; Yokoyama E; Lezana JL; Carnevale A; Macías M; Vigueras RM; López M; Orozco L
Rev Invest Clin; 2010; 62(6):546-52. PubMed ID: 21416780
[TBL] [Abstract][Full Text] [Related]
4. Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.
Radpour R; Gilani MA; Gourabi H; Dizaj AV; Mollamohamadi S
Mol Hum Reprod; 2006 Jul; 12(7):469-73. PubMed ID: 16714368
[TBL] [Abstract][Full Text] [Related]
5. Molecular basis of cystic fibrosis in Lithuania: incomplete CFTR mutation detection by PCR-based screening protocols.
Giannattasio S; Bobba A; Jurgelevicius V; Vacca RA; Lattanzio P; Merafina RS; Utkus A; Kucinskas V; Marra E
Genet Test; 2006; 10(3):169-73. PubMed ID: 17020467
[TBL] [Abstract][Full Text] [Related]
6. Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis.
Nefzi M; Fredj SH; Dabboubi R; Hamouda S; Tebib N; Boussetta K; Messaoud T
Ann Biol Clin (Paris); 2021 Feb; 79(1):63-68. PubMed ID: 33589413
[TBL] [Abstract][Full Text] [Related]
7. Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays.
Zilfalil BA; Sarina S; Liza-Sharmini AT; Oldfield NJ; Stenhouse SA
Singapore Med J; 2006 Feb; 47(2):129-33. PubMed ID: 16435054
[TBL] [Abstract][Full Text] [Related]
8. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients.
Raskin S; Pereira-Ferrari L; Reis FC; Abreu F; Marostica P; Rozov T; Cardieri J; Ludwig N; Valentin L; Rosario-Filho NA; Camargo Neto E; Lewis E; Giugliani R; Diniz EM; Culpi L; Phillip JA; Chakraborty R
J Cyst Fibros; 2008 Jan; 7(1):15-22. PubMed ID: 17544945
[TBL] [Abstract][Full Text] [Related]
9. Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina.
Roqué M; Godoy CP; Castellanos M; Pusiol E; Mayorga LS
Hum Mutat; 2001 Aug; 18(2):167. PubMed ID: 11462248
[TBL] [Abstract][Full Text] [Related]
10. Association of IVS6A GATT polymorphism of CFTR gene with cystic fibrosis: first study in CF and normal Tunisian population.
Chaima S; Sondess HF; Khedija B; Ahmed M; Taieb M
Ann Biol Clin (Paris); 2020 Jun; 78(3):314-318. PubMed ID: 32540817
[TBL] [Abstract][Full Text] [Related]
11. Cystic fibrosis transmembrane regulator haplotypes in households of patients with cystic fibrosis.
Furgeri DT; Marson FAL; Correia CAA; Ribeiro JD; Bertuzzo CS
Gene; 2018 Jan; 641():137-143. PubMed ID: 29054758
[TBL] [Abstract][Full Text] [Related]
12. Correctors (specific therapies for class II CFTR mutations) for cystic fibrosis.
Southern KW; Patel S; Sinha IP; Nevitt SJ
Cochrane Database Syst Rev; 2018 Aug; 8(8):CD010966. PubMed ID: 30070364
[TBL] [Abstract][Full Text] [Related]
13. The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.
Strom CM; Redman JB; Peng M
Genet Med; 2011 Dec; 13(12):1042-4. PubMed ID: 21804385
[TBL] [Abstract][Full Text] [Related]
14. Prevalence of cystic fibrosis mutations in Israeli Jews.
Orgad S; Neumann S; Loewenthal R; Netanelov-Shapira I; Gazit E
Genet Test; 2001; 5(1):47-52. PubMed ID: 11336401
[TBL] [Abstract][Full Text] [Related]
15. Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations.
Pompei F; Ciminelli BM; Bombieri C; Ciccacci C; Koudova M; Giorgi S; Belpinati F; Begnini A; Cerny M; Des Georges M; Claustres M; Ferec C; Macek M; Modiano G; Pignatti PF
Eur J Hum Genet; 2006 Jan; 14(1):85-93. PubMed ID: 16251901
[TBL] [Abstract][Full Text] [Related]
16. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
Thauvin-Robinet C; Munck A; Huet F; Génin E; Bellis G; Gautier E; Audrézet MP; Férec C; Lalau G; Georges MD; Claustres M; Bienvenu T; Gérard B; Boisseau P; Cabet-Bey F; Feldmann D; Clavel C; Bieth E; Iron A; Simon-Bouy B; Costa C; Medina R; Leclerc J; Hubert D; Nové-Josserand R; Sermet-Gaudelus I; Rault G; Flori J; Leroy S; Wizla N; Bellon G; Haloun A; Perez-Martin S; d'Acremont G; Corvol H; Clément A; Houssin E; Binquet C; Bonithon-Kopp C; Alberti-Boulmé C; Morris MA; Faivre L; Goossens M; Roussey M; ; Girodon E
J Med Genet; 2009 Nov; 46(11):752-8. PubMed ID: 19880712
[TBL] [Abstract][Full Text] [Related]
17. Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.
Ashavaid TF; Kondkar AA; Dherai AJ; Raghavan R; Udani SV; Udwadia ZF; Desai D
Mol Diagn; 2005; 9(2):59-66. PubMed ID: 16137181
[TBL] [Abstract][Full Text] [Related]
18. Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population.
Huang Q; Ding W; Wei MX
World J Gastroenterol; 2008 Mar; 14(12):1925-30. PubMed ID: 18350634
[TBL] [Abstract][Full Text] [Related]
19. Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.
Shastri SS; Kabra M; Kabra SK; Pandey RM; Menon PS
J Cyst Fibros; 2008 Mar; 7(2):110-5. PubMed ID: 17716958
[TBL] [Abstract][Full Text] [Related]
20. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.
Wang X; Moylan B; Leopold DA; Kim J; Rubenstein RC; Togias A; Proud D; Zeitlin PL; Cutting GR
JAMA; 2000 Oct; 284(14):1814-9. PubMed ID: 11025834
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
