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Results: 1 to 20 of 101

1.

Cystic fibrosis: Experience in one institution.

Liu LC, Shyur SD, Chu SH, Huang LH, Kao YH, Lei WT, Cheng CH, Lo CY, Chen CK, Fang LC.

J Microbiol Immunol Infect. 2014 Aug;47(4):358-61. doi: 10.1016/j.jmii.2012.06.005. Epub 2012 Sep 16.

PMID:
22992393
[PubMed - in process]
2.

Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW.

J Korean Med Sci. 2008 Oct;23(5):912-5. doi: 10.3346/jkms.2008.23.5.912.

PMID:
18955805
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
4.

Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

Jung H, Ki CS, Koh WJ, Ahn KM, Lee SI, Kim JH, Ko JS, Seo JK, Cha SI, Lee ES, Kim JW.

Korean J Lab Med. 2011 Jul;31(3):219-24. doi: 10.3343/kjlm.2011.31.3.219. Epub 2011 Jun 28.

PMID:
21779199
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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]
6.

[Genotypes of cystic fibrosis (CF) reported in the world and polymorphisms of cystic fibrosis transmembrane conductance regulator (CFTR) gene in Japanese].

Wang W, Okayama H, Shirato K.

Nihon Rinsho. 1996 Feb;54(2):525-32. Review. Japanese.

PMID:
8838109
[PubMed - indexed for MEDLINE]
7.

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
8.

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.

Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ.

Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19.

PMID:
15905293
[PubMed - indexed for MEDLINE]
Free Article
9.

[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]
10.

Unique mutations of the cystic fibrosis transmembrane conductance regulator gene of three cases of cystic fibrosis in Nagasaki, Japan.

Izumikawa K, Tomiyama Y, Ishimoto H, Sakamoto N, Imamura Y, Seki M, Sawai T, Kakeya H, Yamamoto Y, Yanagihara K, Mukae H, Yoshimura K, Kohno S.

Intern Med. 2009;48(15):1327-31. Epub 2009 Aug 3.

PMID:
19652440
[PubMed - indexed for MEDLINE]
Free Article
11.

Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.

Lin CJ, Chang SP, Ke YY, Chiu HY, Tsao LY, Chen M.

Pediatr Neonatol. 2008 Dec;49(6):240-4. doi: 10.1016/S1875-9572(09)60018-8. Erratum in: Pediatr Neonatol. 2009 Feb;50(1):39.

PMID:
19166122
[PubMed - indexed for MEDLINE]
12.

Subject review: pancreatic ductal adenocarcinoma in the setting of mutations in the cystic fibrosis transmembrane conductance regulator gene: case report and review of the literature.

Rittenhouse DW, Talbott VA, Anklesaria Z, Brody JR, Witkiewicz AK, Yeo CJ.

J Gastrointest Surg. 2011 Dec;15(12):2284-90. doi: 10.1007/s11605-011-1639-y. Epub 2011 Aug 2. Review.

PMID:
21809164
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
16137181
[PubMed - indexed for MEDLINE]
14.

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. Epub 2007 Jul 27.

PMID:
17662673
[PubMed - indexed for MEDLINE]
Free Article
15.

Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings.

Wu CL, Shu SG, Zielenski J, Chiang CD, Tsui LC.

J Formos Med Assoc. 2000 Jul;99(7):564-7.

PMID:
10925568
[PubMed - indexed for MEDLINE]
16.

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Dörk T, Wulbrand U, Richter T, Neumann T, Wolfes H, Wulf B, Maass G, Tümmler B.

Hum Genet. 1991 Aug;87(4):441-6.

PMID:
1715308
[PubMed - indexed for MEDLINE]
17.

A novel CFTR mutation found in a Chinese patient with cystic fibrosis.

Li N, Pei P, Bu DF, He B, Wang GF.

Chin Med J (Engl). 2006 Jan 20;119(2):103-9.

PMID:
16454991
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

PMID:
16435054
[PubMed - indexed for MEDLINE]
Free Article
20.

CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.

Will K, Reiss J, Dean M, Schlösser M, Slomski R, Schmidtke J, Stuhrmann M.

J Med Genet. 1993 Oct;30(10):833-7.

PMID:
7693946
[PubMed - indexed for MEDLINE]
Free PMC Article

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