226 related articles for article (PubMed ID: 16596947)
1. Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.
Bienvenu T; Viel M; Leroy C; Cartault F; Lesure JF; Renouil M
Hum Biol; 2005 Oct; 77(5):705-14. PubMed ID: 16596947
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island.
Nectoux J; Audrezet MP; Viel M; Leroy C; Raguenes O; Ferec C; Lesure JF; Davy N; Renouil M; Cartault F; Bienvenu T
Genet Test; 2006; 10(3):208-14. PubMed ID: 17020473
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
Le Maréchal C; Audrézet MP; Quéré I; Raguénès O; Langonné S; Férec C
Hum Genet; 2001 Apr; 108(4):290-8. PubMed ID: 11379874
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.
Tzetis M; Kanavakis E; Antoniadi T; Doudounakis S; Adam G; Kattamis C
Hum Genet; 1997 Jan; 99(1):121-5. PubMed ID: 9003508
[TBL] [Abstract][Full Text] [Related]
9. Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
Hughes DJ; Hill AJ; Macek M; Redmond AO; Nevin NC; Graham CA
Hum Mutat; 1996; 8(4):340-7. PubMed ID: 8956039
[TBL] [Abstract][Full Text] [Related]
10. mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.
Felício V; Ramalho AS; Igreja S; Amaral MD
Clin Genet; 2017 Mar; 91(3):476-481. PubMed ID: 27174726
[TBL] [Abstract][Full Text] [Related]
11. Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide.
Bienvenu T; Cazeneuve C; Kaplan JC; Beldjord C
Hum Mutat; 1995; 6(1):23-9. PubMed ID: 7550227
[TBL] [Abstract][Full Text] [Related]
12. [Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland].
Aznarez I; Bal J; Casals T; Estivill X; Moral N; Sands D; Nunes V; Sobczyńska-Tomaszewska A; Tsui LC; Zielenski J
Med Wieku Rozwoj; 2000; 4(2):149-59. PubMed ID: 11013869
[TBL] [Abstract][Full Text] [Related]
13. Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.
Majed OAK; Majed FO; Almoamen NJ; Alsatrawi HB; Shehabi SD; Hrbková J; Libik M; Macek M
Mol Genet Genomics; 2024 May; 299(1):52. PubMed ID: 38744777
[TBL] [Abstract][Full Text] [Related]
14. Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.
Duguépéroux I; Bellis G; Lesure JF; Renouil M; Flodrops H; De Braekeleer M
J Cyst Fibros; 2004 Aug; 3(3):185-8. PubMed ID: 15463906
[TBL] [Abstract][Full Text] [Related]
15. Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL; Macek M; Fine JP; Farrell PM
Hum Mutat; 2002 Jun; 19(6):575-606. PubMed ID: 12007216
[TBL] [Abstract][Full Text] [Related]
16. Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
Onay T; Topaloglu O; Zielenski J; Gokgoz N; Kayserili H; Camcioglu Y; Cokugras H; Akcakaya N; Apak M; Tsui LC; Kirdar B
Hum Genet; 1998 Feb; 102(2):224-30. PubMed ID: 9521595
[TBL] [Abstract][Full Text] [Related]
17. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
Macek M; Mackova A; Hamosh A; Hilman BC; Selden RF; Lucotte G; Friedman KJ; Knowles MR; Rosenstein BJ; Cutting GR
Am J Hum Genet; 1997 May; 60(5):1122-7. PubMed ID: 9150159
[TBL] [Abstract][Full Text] [Related]
18. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.
El-Seedy A; Pasquet MC; Shafiek H; Morsi T; Kitzis A; Ladevèze V
Cell Mol Biol (Noisy-le-grand); 2016 Nov; 62(13):21-28. PubMed ID: 28040058
[TBL] [Abstract][Full Text] [Related]
19. CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.
Plouvier E; Cougoureux E; Sardet A; Tournier G; Aymard P; Feldmann D
Ann Genet; 1997; 40(3):185-8. PubMed ID: 9401110
[TBL] [Abstract][Full Text] [Related]
20. Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis.
Padoan R; Genoni S; Moretti E; Seia M; Giunta A; Corbetta C
Acta Paediatr; 2002; 91(1):82-7. PubMed ID: 11883825
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]