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Items: 1 to 20 of 91

1.

The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.

Mishra A, Greaves R, Massie J.

Clin Biochem Rev. 2005 Nov;26(4):135-53.

2.

CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.

Bonadia LC, de Lima Marson FA, Ribeiro JD, Paschoal IA, Pereira MC, Ribeiro AF, Bertuzzo CS.

Gene. 2014 May 1;540(2):183-90. doi: 10.1016/j.gene.2014.02.040. Epub 2014 Feb 26.

PMID:
24583165
3.

Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.

Ratkiewicz M, Pastore M, McCoy KS, Thompson R, Hayes D Jr, Sheikh SI.

World J Pediatr. 2017 Apr;13(2):129-135. doi: 10.1007/s12519-017-0015-8. Epub 2017 Feb 15.

PMID:
28194692
4.

A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.

Mickle JE, Macek M Jr, Fulmer-Smentek SB, Egan MM, Schwiebert E, Guggino W, Moss R, Cutting GR.

Hum Mol Genet. 1998 Apr;7(4):729-35.

PMID:
9499426
5.

Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.

Goubau C, Wilschanski M, Skalická V, Lebecque P, Southern KW, Sermet I, Munck A, Derichs N, Middleton PG, Hjelte L, Padoan R, Vasar M, De Boeck K.

Thorax. 2009 Aug;64(8):683-91. doi: 10.1136/thx.2008.104752. Epub 2009 Mar 23.

PMID:
19318346
7.

Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data.

Derichs N, Sanz J, Von Kanel T, Stolpe C, Zapf A, Tümmler B, Gallati S, Ballmann M.

Thorax. 2010 Jul;65(7):594-9. doi: 10.1136/thx.2009.125088.

PMID:
20627915
8.

Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator.

Mekus F, Ballmann M, Bronsveld I, Dörk T, Bijman J, Tümmler B, Veeze HJ.

Hum Genet. 1998 May;102(5):582-6.

PMID:
9654209
9.

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB.

Pediatrics. 2004 Jun;113(6):1573-81.

PMID:
15173476
10.

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.

N Engl J Med. 2002 Aug 8;347(6):401-7.

11.

Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis.

Bienvenu T, Sermet-Gaudelus I, Burgel PR, Hubert D, Crestani B, Bassinet L, Dusser D, Fajac I.

Am J Respir Crit Care Med. 2010 May 15;181(10):1078-84. doi: 10.1164/rccm.200909-1434OC. Epub 2010 Feb 18.

PMID:
20167849
12.

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.

Sermet-Gaudelus I, Girodon E, Roussel D, Deneuville E, Bui S, Huet F, Guillot M, Aboutaam R, Renouil M, Munck A, des Georges M, Iron A, Thauvin-Robinet C, Fajac I, Lenoir G, Roussey M, Edelman A.

Thorax. 2010 Jun;65(6):539-44. doi: 10.1136/thx.2009.123422.

PMID:
20522854
13.

Diagnosis of cystic fibrosis.

Voter KZ, Ren CL.

Clin Rev Allergy Immunol. 2008 Dec;35(3):100-6. doi: 10.1007/s12016-008-8078-x. Review.

PMID:
18506640
14.

A survey of newborn screening for cystic fibrosis in Europe.

Southern KW, Munck A, Pollitt R, Travert G, Zanolla L, Dankert-Roelse J, Castellani C; ECFS CF Neonatal Screening Working Group.

J Cyst Fibros. 2007 Jan;6(1):57-65. Epub 2006 Jul 25.

15.

Sixty-five years since the New York heat wave: advances in sweat testing for cystic fibrosis.

Collie JT, Massie RJ, Jones OA, LeGrys VA, Greaves RF.

Pediatr Pulmonol. 2014 Feb;49(2):106-17. doi: 10.1002/ppul.22945. Epub 2013 Nov 19. Review.

PMID:
24249707
16.
17.

The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening.

Sermet-Gaudelus I, Roussel D, Bui S, Deneuville E, Huet F, Reix P, Bellon G, Lenoir G, Edelman A.

BMC Pediatr. 2006 Oct 3;6:25.

18.

Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis.

Raman V, Clary R, Siegrist KL, Zehnbauer B, Chatila TA.

Pediatrics. 2002 Jan;109(1):E13.

PMID:
11773581
19.

Low abundance of sweat duct Cl- channel CFTR in both healthy and cystic fibrosis athletes with exceptionally salty sweat during exercise.

Brown MB, Haack KK, Pollack BP, Millard-Stafford M, McCarty NA.

Am J Physiol Regul Integr Comp Physiol. 2011 Mar;300(3):R605-15. doi: 10.1152/ajpregu.00660.2010. Epub 2011 Jan 12.

20.

Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations.

Wilschanski M, Zielenski J, Markiewicz D, Tsui LC, Corey M, Levison H, Durie PR.

J Pediatr. 1995 Nov;127(5):705-10.

PMID:
7472820

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