Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 203

1.

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis.

Pignatti PF, Bombieri C, Marigo C, Benetazzo M, Luisetti M.

Hum Mol Genet. 1995 Apr;4(4):635-9.

PMID:
7543317
[PubMed - indexed for MEDLINE]
2.

CFTR gene mutations in adults with disseminated bronchiectasis.

Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, Bignon J, Goossens M.

Eur J Hum Genet. 1997 May-Jun;5(3):149-55.

PMID:
9272738
[PubMed - indexed for MEDLINE]
3.

Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.

Ziedalski TM, Kao PN, Henig NR, Jacobs SS, Ruoss SJ.

Chest. 2006 Oct;130(4):995-1002.

PMID:
17035430
[PubMed - indexed for MEDLINE]
4.
5.

[Mutations and polymorphisms in CFTR genes in infertile men with oligospermia or azoospermia].

Kusić J, Radojković D, Maletić V, Branković S, Savić A.

Srp Arh Celok Lek. 2002 Jan-Feb;130(1-2):1-6. Serbian.

PMID:
12073281
[PubMed - indexed for MEDLINE]
6.

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

Devoto M, Ronchetto P, Fanen P, Orriols JJ, Romeo G, Goossens M, Ferrari M, Magnani C, Seia M, Cremonesi L.

Am J Hum Genet. 1991 Jun;48(6):1127-32.

PMID:
1709778
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

Zielenski J, Fujiwara TM, Markiewicz D, Paradis AJ, Anacleto AI, Richards B, Schwartz RH, Klinger KW, Tsui LC, Morgan K.

Am J Hum Genet. 1993 Mar;52(3):609-15.

PMID:
7680525
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR.

J Clin Invest. 1991 Dec;88(6):1880-5.

PMID:
1721624
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease.

Tzetis M, Efthymiadou A, Strofalis S, Psychou P, Dimakou A, Pouliou E, Doudounakis S, Kanavakis E.

Hum Genet. 2001 Mar;108(3):216-21.

PMID:
11354633
[PubMed - indexed for MEDLINE]
10.

Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis.

Irving RM, McMahon R, Clark R, Jones NS.

Clin Otolaryngol Allied Sci. 1997 Dec;22(6):519-21.

PMID:
9466061
[PubMed - indexed for MEDLINE]
11.

CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.

Persu A, Devuyst O, Lannoy N, Materne R, Brosnahan G, Gabow PA, Pirson Y, Verellen-Dumoulin C.

J Am Soc Nephrol. 2000 Dec;11(12):2285-96.

PMID:
11095651
[PubMed - indexed for MEDLINE]
Free Article
12.

Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.

Ravnik-Glavac M, Glavac D, Komel R, Dean M.

Hum Mutat. 1993;2(4):286-92.

PMID:
7691352
[PubMed - indexed for MEDLINE]
13.

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.

Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M.

Hum Mutat. 1992;1(4):314-9.

PMID:
1284538
[PubMed - indexed for MEDLINE]
14.

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):1233-42. doi: 10.1378/chest.08-2246. Epub 2008 Nov 18.

PMID:
19017867
[PubMed - indexed for MEDLINE]
15.

Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients.

Verlingue C, Vuillaumier S, Mercier B, Le Gac M, Elion J, Férec C, Denamur E.

J Med Genet. 1998 Feb;35(2):137-40.

PMID:
9507393
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients.

Dörk T, Kälin N, Stuhrmann M, Schmidtke J, Tümmler B.

Hum Genet. 1992 Nov;90(3):279-84.

PMID:
1283149
[PubMed - indexed for MEDLINE]
17.

Identification of 12 novel mutations in the CFTR gene.

Audrézet MP, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C.

Hum Mol Genet. 1993 Jan;2(1):51-4. Erratum in: Hum Mol Genet 1993 Apr;2(4):496.

PMID:
7683952
[PubMed - indexed for MEDLINE]
18.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study.

Ngiam NS, Chong SS, Shek LP, Goh DL, Ong KC, Chng SY, Yeo GH, Goh DY.

J Cyst Fibros. 2006 Aug;5(3):159-64. Epub 2006 Mar 6.

PMID:
16678503
[PubMed - indexed for MEDLINE]
Free Article
19.

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation.

Kanavakis E, Tzetis M, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, Matsaniotis N, Kattamis C.

Hum Genet. 1995 Sep;96(3):364-6.

PMID:
7544320
[PubMed - indexed for MEDLINE]
20.

Natural history of pancreatitis associated with cystic fibrosis gene mutations.

Frulloni L, Castellani C, Bovo P, Vaona B, Calore B, Liani C, Mastella G, Cavallini G.

Dig Liver Dis. 2003 Mar;35(3):179-85.

PMID:
12779072
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk