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Year Number of Results
1967 1
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1970 1
1971 1
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1976 1
1977 2
1979 3
1980 2
1981 3
1982 2
1983 2
1984 5
1985 4
1986 8
1987 11
1988 14
1989 36
1990 107
1991 118
1992 168
1993 151
1994 156
1995 160
1996 133
1997 141
1998 130
1999 156
2000 167
2001 151
2002 162
2003 172
2004 179
2005 189
2006 180
2007 182
2008 203
2009 184
2010 239
2011 230
2012 241
2013 223
2014 242
2015 253
2016 264
2017 236
2018 267
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2020 284
2021 317
2022 255
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2025 59

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6,564 results

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Page 1
Clinical Phenotypes of Cystic Fibrosis Carriers.
Polgreen PM, Comellas AP. Polgreen PM, et al. Annu Rev Med. 2022 Jan 27;73:563-574. doi: 10.1146/annurev-med-042120-020148. Annu Rev Med. 2022. PMID: 35084992 Free PMC article. Review.
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in CFTR, the cystic fibrosis transmembrane conductance regulator gene. People with CF experience a wide variety of medical conditions that affect t …
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in CFTR, the cystic fibro …
Cystic fibrosis in the year 2020: A disease with a new face.
De Boeck K. De Boeck K. Acta Paediatr. 2020 May;109(5):893-899. doi: 10.1111/apa.15155. Epub 2020 Jan 22. Acta Paediatr. 2020. PMID: 31899933 Review.
The autosomal recessive disease cystic fibrosis (CF) was once untreatable and deadly in childhood, but now most patients survive to adulthood. ...CF research has greatly intensified following the discovery of the CF transmembrane conductance regulator (CFTR) gene …
The autosomal recessive disease cystic fibrosis (CF) was once untreatable and deadly in childhood, but now most patients survi …
CFTR gene variants, epidemiology and molecular pathology.
Bareil C, Bergougnoux A. Bareil C, et al. Arch Pediatr. 2020 Feb;27 Suppl 1:eS8-eS12. doi: 10.1016/S0929-693X(20)30044-0. Arch Pediatr. 2020. PMID: 32172939 Free article. Review.
More than 2,000 variants, distributed throughout the CFTR gene, have been identified, with different effects on the gene and protein expression and function. ...This review presents an overview of the epidemiology of CFTR variants worldwide and in France and …
More than 2,000 variants, distributed throughout the CFTR gene, have been identified, with different effects on the gene and p …
Identification of the cystic fibrosis gene: genetic analysis.
Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Kerem B, et al. Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460. Science. 1989. PMID: 2570460
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid position 508 of the putative product of the cystic fibros …
Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base p …
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
Raraigh KS, Aksit MA, Hetrick K, Pace RG, Ling H, O'Neal W, Blue E, Zhou YH, Bamshad MJ, Blackman SM, Gibson RL, Knowles MR, Cutting GR. Raraigh KS, et al. J Cyst Fibros. 2022 May;21(3):463-470. doi: 10.1016/j.jcf.2021.10.011. Epub 2021 Nov 12. J Cyst Fibros. 2022. PMID: 34782259 Free article.
BACKGROUND: Cystic fibrosis (CF) is a recessive condition caused by variants in each CF transmembrane conductance regulator (CFTR) allele. ...METHODS: Whole genome sequences were analyzed on 5,058 individuals with CF. We focused on the full CFTR gene sequence …
BACKGROUND: Cystic fibrosis (CF) is a recessive condition caused by variants in each CF transmembrane conductance regulator (C …
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV, Kashirskaya NY, Vasilyeva TA, Kondratyeva EI, Zhekaite EK, Voronkova AY, Sherman VD, Galkina VA, Ginter EK, Kutsev SI, Marakhonov AV, Zinchenko RA. Petrova NV, et al. Genes (Basel). 2020 May 15;11(5):554. doi: 10.3390/genes11050554. Genes (Basel). 2020. PMID: 32429104 Free PMC article.
The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. ...The aim is to reveal the molecular causes of CF in ethnic Russian patients as …
The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are …
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL, Macek M Jr, Fine JP, Farrell PM. Bobadilla JL, et al. Hum Mutat. 2002 Jun;19(6):575-606. doi: 10.1002/humu.10041. Hum Mutat. 2002. PMID: 12007216 Review.
Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator), little attention has been given to integrating these mutant alleles into a glo …
Although there have been numerous reports from around the world of mutations in the gene of chromosome 7 known as CFTR (cys …
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. Claustres M, et al. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. ...Base …
Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. T …
The cystic fibrosis gene.
Barrett KE, Dharmsathaphorn K. Barrett KE, et al. Gastroenterology. 1990 Feb;98(2):535-6. doi: 10.1016/0016-5085(90)90852-r. Gastroenterology. 1990. PMID: 1688540 No abstract available.
Cystic fibrosis gene.
Harris A. Harris A. Br Med Bull. 1992 Oct;48(4):738-53. doi: 10.1093/oxfordjournals.bmb.a072575. Br Med Bull. 1992. PMID: 1281033 Review.
The cystic fibrosis gene, located at 7q31, spans about 230 kb of genomic DNA and contains 27 exons. The cDNA of 6.2kb would predict an 1480 amino acid protein, the cystic fibrosis transmembrane conductance regulator (CFTR). CFTR has a high degre …
The cystic fibrosis gene, located at 7q31, spans about 230 kb of genomic DNA and contains 27 exons. The cDNA of 6.2kb w …
6,564 results