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Items: 1 to 20 of 85

1.

Mutation nomenclature: nicknames, systematic names, and unique identifiers.

Beutler E, McKusick VA, Motulsky AG, Scriver CR, Hutchinson F.

Hum Mutat. 1996;8(3):203-6. No abstract available.

PMID:
8889577
2.

A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.

Chen JM, Cutler C, Jacques C, Boeuf G, Denamur E, Lecointre G, Mercier B, Cramb G, Férec C.

Mol Biol Evol. 2001 Sep;18(9):1771-88.

PMID:
11504857
3.

Is the spectrum of mutations in Indian patients with cystic fibrosis different?

Kabra M, Kabra SK, Ghosh M, Khanna A, Arora S, Menon PS, Verma IC, Wallace A.

Am J Med Genet. 2000 Jul 17;93(2):161-3. No abstract available. Erratum in: Am J Med Genet 2000 Dec 11;95(4):410.

PMID:
10869121
4.

Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis.

Schrijver I, Karnsakul W, Limwongse C, Ramalingam S, Sankaran R, Gardner P, Moss R.

Am J Med Genet A. 2005 Feb 15;133A(1):103-5. No abstract available.

PMID:
15744829
5.

Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.

Feldmann D, Sardet A, Cougoureux E, Plouvier E, Fontaine JL, Tournier G, Aymard P.

Hum Mutat. 1998;Suppl 1:S78-80. No abstract available.

PMID:
9452048
6.

Gene symbol: CFTR. Disease: Cystic fibrosis.

Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C.

Hum Genet. 2004 Mar;114(4):403. No abstract available.

PMID:
15046061
7.

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

Fanen P, Clain J, Labarthe R, Hulin P, Girodon E, Pagesy P, Goossens M, Edelman A.

FEBS Lett. 1999 Jun 11;452(3):371-4.

8.

Laser desorption mass spectrometry for point mutation detection.

Taranenko NI, Matteson KJ, Chung CN, Zhu YF, Chang LY, Allman SL, Haff L, Martin SA, Chen CH.

Genet Anal. 1996 Oct;13(4):87-94.

PMID:
8950580
9.

The DeltaF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator.

Chen EY, Bartlett MC, Loo TW, Clarke DM.

J Biol Chem. 2004 Sep 17;279(38):39620-7. Epub 2004 Jul 21.

10.

Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.

Kusic J, Radojkovic D, Cuppens H, Jaspers M, Tomic J, Savic A.

Hum Mutat. 1999 Oct;14(4):357. No abstract available.

PMID:
10502789
11.

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.

Mickle JE, Cutting GR.

Clin Chest Med. 1998 Sep;19(3):443-58, v. Review.

PMID:
9759548
12.

Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.

Alibakhshi R, Zamani M.

Iran J Allergy Asthma Immunol. 2006 Mar;5(1):3-8.

13.

Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.

Casals T, Ramos MD, Giménez J, Nadal M, Nunes V, Estivill X.

Hum Mutat. 1998;Suppl 1:S99-102. No abstract available.

PMID:
9452054
14.

A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene.

Mittre H, Barre M, Leymarie P.

Hum Mutat. 1996;8(4):392-3. No abstract available.

PMID:
8956053
15.

Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR.

Feriotto G, Ferlini A, Ravani A, Calzolari E, Mischiati C, Bianchi N, Gambari R.

Hum Mutat. 2001;18(1):70-81.

PMID:
11438995
16.

Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.

Ramalho AS, Beck S, Penque D, Gonska T, Seydewitz HH, Mall M, Amaral MD.

J Med Genet. 2003 Jul;40(7):e88. No abstract available.

17.

Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature.

[No authors listed]

Hum Mutat. 1996;8(3):197-202. No abstract available.

PMID:
8889576
18.

Detection of the DeltaF508 mutation in the CFTR gene by means of time-resolved fluorescence methods.

Kirschstein S, Winter S, Turner D, Löber G.

Bioelectrochem Bioenerg. 1999 May;48(2):415-21.

PMID:
10379562
19.

Screening methods for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in non-human primates.

Glavac D, Ravnik-Glavac M, Potocnik U, Dean M, Wine J.

Pflugers Arch. 2000;439(3 Suppl):R12-3.

PMID:
10653125
20.

A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients.

Wang J, Bowman MC, Hsu E, Wertz K, Wong LJ.

J Med Genet. 2000 Mar;37(3):215-8. No abstract available.

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