221 related articles for article (PubMed ID: 11076381)
1. [Cystic fibrosis: from the child to the adult].
Murris-Espin M; Didier A
Rev Mal Respir; 2000 Aug; 17(3 Pt 2):721-3. PubMed ID: 11076381
[No Abstract] [Full Text] [Related]
2. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
Brugnon F; Bilan F; Heraud MC; Grizard G; Janny L; Creveaux I
Fertil Steril; 2008 Nov; 90(5):2004.e23-6. PubMed ID: 18703181
[TBL] [Abstract][Full Text] [Related]
3. Newborn screening for cystic fibrosis.
Wallace J; Stein Q
S D Med; 2006 Oct; 59(10):429-31. PubMed ID: 17124920
[No Abstract] [Full Text] [Related]
4. A disease called 'sixty-five roses'.
Nat Struct Biol; 2002 Dec; 9(12):887. PubMed ID: 12447350
[No Abstract] [Full Text] [Related]
5. Advances in cystic fibrosis therapies.
Rowe SM; Clancy JP
Curr Opin Pediatr; 2006 Dec; 18(6):604-13. PubMed ID: 17099358
[TBL] [Abstract][Full Text] [Related]
6. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.
Niel F; Martin J; Dastot-Le Moal F; Costes B; Boissier B; Delattre V; Goossens M; Girodon E
J Med Genet; 2004 Nov; 41(11):e118. PubMed ID: 15520400
[No Abstract] [Full Text] [Related]
7. Molecular diagnosis of cystic fibrosis.
Shrimpton AE
Expert Rev Mol Diagn; 2002 May; 2(3):240-56. PubMed ID: 12050863
[TBL] [Abstract][Full Text] [Related]
8. Cystic fibrosis mutations with widely variable phenotype: the D1152H example.
Mussaffi H; Prais D; Mei-Zahav M; Blau H
Pediatr Pulmonol; 2006 Mar; 41(3):250-4. PubMed ID: 16429425
[TBL] [Abstract][Full Text] [Related]
9. Applying CFTR molecular genetics to facilitate the diagnosis of cystic fibrosis through screening.
Bobadilla JL; Farrell MH; Farrell PM
Adv Pediatr; 2002; 49():131-90. PubMed ID: 12214770
[No Abstract] [Full Text] [Related]
10. [Genetic counseling in cystic fibrosis].
Julia S; Bieth E
Rev Mal Respir; 2000 Aug; 17(3 Pt 2):807-11. PubMed ID: 11076391
[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. [Management of the patient with mucoviscidosis].
;
Rev Mal Respir; 2003 Feb; 20(1 Pt 1):149-57. PubMed ID: 12739564
[No Abstract] [Full Text] [Related]
13. Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study.
Monaghan KG; Feldman GL; Barbarotto GM; Manji S; Desai TK; Snow K
Am J Med Genet; 2000 Dec; 95(4):361-5. PubMed ID: 11186891
[TBL] [Abstract][Full Text] [Related]
14. Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis.
Derichs N; Schuster A; Grund I; Ernsting A; Stolpe C; Körtge-Jung S; Gallati S; Stuhrmann M; Kozlowski P; Ballmann M
Clin Genet; 2005 Jun; 67(6):529-31. PubMed ID: 15857421
[No Abstract] [Full Text] [Related]
15. [Correlation between phenotype and genotype in a group of patients with cystic fibrosis].
Navarro H; Kolbach M; Repetto G; Guiraldes E; Harris P; Foradori A; Poggi H; Sánchez I
Rev Med Chil; 2002 May; 130(5):475-81. PubMed ID: 12143267
[TBL] [Abstract][Full Text] [Related]
16. [Problems posed by genetic diseases: cystic fibrosis].
Bellon G; Reix P
Rev Prat; 2006 Apr; 56(8):883-90. PubMed ID: 16764250
[No Abstract] [Full Text] [Related]
17. Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.
Alghisi F; Bella S; Lucidi V; Angioni A; Tomaiuolo AC; D'Apice MR; Gambardella S; Novelli G
Pancreas; 2009 Jan; 38(1):109-10. PubMed ID: 19106752
[No Abstract] [Full Text] [Related]
18. Screening for mutations in the cystic fibrosis transmembrane regulator gene in an infertility clinic.
Slostad J; Stein QP; Flanagan JD; Hansen KA
Fertil Steril; 2007 Dec; 88(6):1687-8. PubMed ID: 17482604
[TBL] [Abstract][Full Text] [Related]
19. [Protein repair therapy in cystic fibrosis].
Clément A; Tamalet A; Fauroux B; Epaud R
Rev Prat; 2003 Jan; 53(2):163-6. PubMed ID: 12664848
[TBL] [Abstract][Full Text] [Related]
20. [From gene to disease; from defective chloride ion transport to cystic fibrosis].
Scheffer H; van den Ouweland AM; Veeze HJ
Ned Tijdschr Geneeskd; 2001 Apr; 145(14):686-7. PubMed ID: 11530706
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]