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Items: 1 to 20 of 123

1.

Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics.

Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tümmler B.

Twin Res. 2000 Dec;3(4):277-93.

PMID:
11463149
2.

Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium.

Bronsveld I, Mekus F, Bijman J, Ballmann M, Greipel J, Hundrieser J, Halley DJ, Laabs U, Busche R, De Jonge HR, Tümmler B, Veeze HJ.

Gastroenterology. 2000 Jul;119(1):32-40.

PMID:
10889152
3.

Heritability of lung disease severity in cystic fibrosis.

Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, Hamosh A, Cutler D, Cutting GR.

Am J Respir Crit Care Med. 2007 May 15;175(10):1036-43. Epub 2007 Mar 1.

4.

Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis.

Blackman SM, Hsu S, Vanscoy LL, Collaco JM, Ritter SE, Naughton K, Cutting GR.

J Clin Endocrinol Metab. 2009 Apr;94(4):1302-9. doi: 10.1210/jc.2008-2186. Epub 2009 Jan 6.

5.

Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs.

Mekus F, Laabs U, Veeze H, Tümmler B.

Hum Genet. 2003 Jan;112(1):1-11. Epub 2002 Oct 3.

PMID:
12483292
6.

Genetic modifiers of nutritional status in cystic fibrosis.

Bradley GM, Blackman SM, Watson CP, Doshi VK, Cutting GR.

Am J Clin Nutr. 2012 Dec;96(6):1299-308. doi: 10.3945/ajcn.112.043406. Epub 2012 Nov 7.

7.

Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis.

Blackman SM, Deering-Brose R, McWilliams R, Naughton K, Coleman B, Lai T, Algire M, Beck S, Hoover-Fong J, Hamosh A, Fallin MD, West K, Arking DE, Chakravarti A, Cutler DJ, Cutting GR.

Gastroenterology. 2006 Oct;131(4):1030-9. Epub 2006 Jul 24.

8.

Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.

Bronsveld I, Mekus F, Bijman J, Ballmann M, de Jonge HR, Laabs U, Halley DJ, Ellemunter H, Mastella G, Thomas S, Veeze HJ, Tümmler B.

J Clin Invest. 2001 Dec;108(11):1705-15.

9.

Potentiators (specific therapies for class III and IV mutations) for cystic fibrosis.

Patel S, Sinha IP, Dwan K, Echevarria C, Schechter M, Southern KW.

Cochrane Database Syst Rev. 2015 Mar 26;(3):CD009841. doi: 10.1002/14651858.CD009841.pub2. Review.

PMID:
25811419
10.

IL1B polymorphisms modulate cystic fibrosis lung disease.

Levy H, Murphy A, Zou F, Gerard C, Klanderman B, Schuemann B, Lazarus R, García KC, Celedón JC, Drumm M, Dahmer M, Quasney M, Schneck K, Reske M, Knowles MR, Pier GB, Lange C, Weiss ST.

Pediatr Pulmonol. 2009 Jun;44(6):580-93. doi: 10.1002/ppul.21026.

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.

12.

Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

Schippa S, Iebba V, Santangelo F, Gagliardi A, De Biase RV, Stamato A, Bertasi S, Lucarelli M, Conte MP, Quattrucci S.

PLoS One. 2013 Apr 17;8(4):e61176. doi: 10.1371/journal.pone.0061176. Print 2013. Erratum in: PLoS One. 2013;8(7). doi:10.1371/annotation/a8b06cd3-c8a8-48fa-9748-b04fded4b963.

14.

Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis.

Kaplan TA, Moccia-Loos G, Rabin M, McKey RM Jr.

Clin J Sport Med. 1996 Oct;6(4):226-31.

PMID:
8894334
15.

Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.

Duguépéroux I, De Braekeleer M; Participating Centres to the French National Cystic Fibrosis Registry.

J Cyst Fibros. 2004 Dec;3(4):259-63.

16.

Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G).

Frossard PM, Bakalinova D, Hertecant J, Bossaert Y, Dawson KP.

J Trop Pediatr. 1999 Jun;45(3):158-60.

PMID:
10401194
17.

Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease.

Collaco JM, Vanscoy L, Bremer L, McDougal K, Blackman SM, Bowers A, Naughton K, Jennings J, Ellen J, Cutting GR.

JAMA. 2008 Jan 30;299(4):417-24. doi: 10.1001/jama.299.4.417.

18.

Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients.

Czerska K, Sobczynska-Tomaszewska A, Sands D, Nowakowska A, Bak D, Wertheim K, Poznanski J, Zielenski J, Norek A, Bal J.

J Appl Genet. 2010;51(3):323-30. doi: 10.1007/BF03208862.

PMID:
20720307
19.

Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis.

Zebrak J, Skuza B, Pogorzelski A, Ligarska R, Kopytko E, Pawlik J, Rutkiewicz E, Witt M.

Clin Genet. 2000 Jan;57(1):56-60.

PMID:
10733236
20.

Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study.

McKone EF, Emerson SS, Edwards KL, Aitken ML.

Lancet. 2003 May 17;361(9370):1671-6.

PMID:
12767731

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