402 related articles for article (PubMed ID: 12955726)
1. CFTR genotypes in patients with normal or borderline sweat chloride levels.
Feldmann D; Couderc R; Audrezet MP; Ferec C; Bienvenu T; Desgeorges M; Claustres M; Mittre H; Blayau M; Bozon D; Malinge MC; Monnier N; Bonnefont JP; Iron A; Bieth E; Dumur V; Clavel C; Cazeneuve C; Girodon E
Hum Mutat; 2003 Oct; 22(4):340. PubMed ID: 12955726
[TBL] [Abstract][Full Text] [Related]
2. Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens.
Levy EM; Granados P; Rawe V; Olmedo SB; Luna MC; Cafferata E; Pivetta OH
Medicina (B Aires); 2004; 64(3):213-8. PubMed ID: 15239534
[TBL] [Abstract][Full Text] [Related]
3. Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
Groman JD; Meyer ME; Wilmott RW; Zeitlin PL; Cutting GR
N Engl J Med; 2002 Aug; 347(6):401-7. PubMed ID: 12167682
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M; Guittard C; Bozon D; Chevalier F; Verlingue C; Ferec C; Girodon E; Cazeneuve C; Bienvenu T; Lalau G; Dumur V; Feldmann D; Bieth E; Blayau M; Clavel C; Creveaux I; Malinge MC; Monnier N; Malzac P; Mittre H; Chomel JC; Bonnefont JP; Iron A; Chery M; Georges MD
Hum Mutat; 2000; 16(2):143-56. PubMed ID: 10923036
[TBL] [Abstract][Full Text] [Related]
5. Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
Stanke F; Ballmann M; Bronsveld I; Dörk T; Gallati S; Laabs U; Derichs N; Ritzka M; Posselt HG; Harms HK; Griese M; Blau H; Mastella G; Bijman J; Veeze H; Tümmler B
J Med Genet; 2008 Jan; 45(1):47-54. PubMed ID: 18178635
[TBL] [Abstract][Full Text] [Related]
6. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
Alibakhshi R; Kianishirazi R; Cassiman JJ; Zamani M; Cuppens H
J Cyst Fibros; 2008 Mar; 7(2):102-9. PubMed ID: 17662673
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.
Goubau C; Wilschanski M; Skalická V; Lebecque P; Southern KW; Sermet I; Munck A; Derichs N; Middleton PG; Hjelte L; Padoan R; Vasar M; De Boeck K
Thorax; 2009 Aug; 64(8):683-91. PubMed ID: 19318346
[TBL] [Abstract][Full Text] [Related]
8. N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.
Van Hoorenbeeck K; Storm K; van den Ende J; Biervliet M; Desager KN
J Cyst Fibros; 2007 May; 6(3):220-2. PubMed ID: 17127107
[TBL] [Abstract][Full Text] [Related]
9. Molecular diagnosis of cystic fibrosis in Indian patients--a preliminary report.
Ashavaid TF; Dherai AJ; Kondkar AA; Raghavan R; Udani SV; Udwadia ZF; Desai D
J Assoc Physicians India; 2003 Apr; 51():345-8. PubMed ID: 12723646
[TBL] [Abstract][Full Text] [Related]
10. Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis.
Seia M; Costantino L; Paracchini V; Porcaro L; Capasso P; Coviello D; Corbetta C; Torresani E; Magazzù D; Consalvo V; Monti A; Costantini D; Colombo C
Clin Biochem; 2009 May; 42(7-8):611-6. PubMed ID: 19318035
[TBL] [Abstract][Full Text] [Related]
11. [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
Schwartz M
Ugeskr Laeger; 2003 Feb; 165(9):912-6. PubMed ID: 12661515
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
Highsmith WE; Burch LH; Zhou Z; Olsen JC; Boat TE; Spock A; Gorvoy JD; Quittel L; Friedman KJ; Silverman LM
N Engl J Med; 1994 Oct; 331(15):974-80. PubMed ID: 7521937
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis].
Radivojević D; Guć-Sćekić M; Djurisić M; Lalić T; Minić P; Kanavakis E
Srp Arh Celok Lek; 2001; 129 Suppl 1():6-9. PubMed ID: 15637983
[TBL] [Abstract][Full Text] [Related]
15. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
Cohn JA; Friedman KJ; Noone PG; Knowles MR; Silverman LM; Jowell PS
N Engl J Med; 1998 Sep; 339(10):653-8. PubMed ID: 9725922
[TBL] [Abstract][Full Text] [Related]
16. The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype.
Augarten A; Ben Tov A; Madgar I; Barak A; Akons H; Laufer J; Efrati O; Aviram M; Bentur L; Blau H; Paret G; Wilschanski M; Kerem BS; Yahav Y
Eur J Gastroenterol Hepatol; 2008 Mar; 20(3):164-8. PubMed ID: 18301294
[TBL] [Abstract][Full Text] [Related]
17. Non-classic cystic fibrosis associated with D1152H CFTR mutation.
Burgel PR; Fajac I; Hubert D; Grenet D; Stremler N; Roussey M; Siret D; Languepin J; Mely L; Fanton A; Labbé A; Domblides P; Vic P; Dagorne M; Reynaud-Gaubert M; Counil F; Varaigne F; Bienvenu T; Bellis G; Dusser D
Clin Genet; 2010 Apr; 77(4):355-64. PubMed ID: 19843100
[TBL] [Abstract][Full Text] [Related]
18. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data.
Derichs N; Sanz J; Von Kanel T; Stolpe C; Zapf A; Tümmler B; Gallati S; Ballmann M
Thorax; 2010 Jul; 65(7):594-9. PubMed ID: 20627915
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis.
Castellani C; Gomez Lira M; Frulloni L; Delmarco A; Marzari M; Bonizzato A; Cavallini G; Pignatti P; Mastella G
Hum Mutat; 2001 Aug; 18(2):166. PubMed ID: 11462247
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
