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Items: 1 to 20 of 137

1.

Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency.

Sebro R, Levy H, Schneck K, Dimmock D, Raby BA, Cannon CL, Broeckel U, Risch NJ.

Clin Genet. 2012 Dec;82(6):546-51. doi: 10.1111/j.1399-0004.2011.01804.x. Epub 2011 Nov 29.

2.

[Genotype-phenotype correlation in a sample of Mexican patients with cystic fibrosis].

Yokoyama E, Lezana JL, Vigueras-Villaseñor RM, Rojas-Castañeda J, Saldaña-Álvarez Y, Orozco L, Chávez-Saldaña M.

Rev Invest Clin. 2013 Nov-Dec;65(6):491-9. Spanish.

PMID:
24687356
3.

Refining the continuum of CFTR-associated disorders in the era of newborn screening.

Levy H, Nugent M, Schneck K, Stachiw-Hietpas D, Laxova A, Lakser O, Rock M, Dahmer MK, Biller J, Nasr SZ, Baker M, McColley SA, Simpson P, Farrell PM.

Clin Genet. 2016 May;89(5):539-49. doi: 10.1111/cge.12711. Epub 2016 Jan 20.

4.

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
5.

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
6.

Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.

Decaestecker K, Decaestecker E, Castellani C, Jaspers M, Cuppens H, De Boeck K.

Eur Respir J. 2004 May;23(5):679-84.

7.

Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.

Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A.

Chest. 2000 Dec;118(6):1591-7.

PMID:
11115444
8.

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
9.

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
10.

Systemic inflammatory mediators and cystic fibrosis genotype.

Augarten A, Paret G, Avneri I, Akons H, Aviram M, Bentur L, Blau H, Efrati O, Szeinberg A, Barak A, Kerem E, Yahav J.

Clin Exp Med. 2004 Oct;4(2):99-102.

PMID:
15672947
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.

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.

Kerem E, Nissim-Rafinia M, Argaman Z, Augarten A, Bentur L, Klar A, Yahav Y, Szeinberg A, Hiba O, Branski D, Corey M, Kerem B.

Pediatrics. 1997 Sep;100(3):E5.

PMID:
9271620
13.

Correlation of sweat chloride concentration with genotypes in cystic fibrosis patients in Saguenay Lac-Saint-Jean, Quebec, Canada.

De Braekeleer M, Allard C, Leblanc JP, Aubin G, Simard F.

Clin Biochem. 1998 Feb;31(1):33-6.

PMID:
9559222
14.

[Cystic fibrosis and normal sweat chloride values: a case-report].

Lebecque P, Leal T, Godding V.

Rev Mal Respir. 2001 Sep;18(4 Pt 1):443-5. French.

PMID:
11547256
15.

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.

16.

CFTR genotypes in patients with normal or borderline sweat chloride levels.

Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E.

Hum Mutat. 2003 Oct;22(4):340.

PMID:
12955726
17.

Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations.

Padoan R, Bassotti A, Seia M, Corbetta C.

Eur J Pediatr. 2002 Apr;161(4):212-5.

PMID:
12014388
18.

The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype.

Augarten A, Ben Tov A, Madgar I, Barak A, Akons H, Laufer J, Efrati O, Aviram M, Bentur L, Blau H, Paret G, Wilschanski M, Kerem BS, Yahav Y.

Eur J Gastroenterol Hepatol. 2008 Mar;20(3):164-8. doi: 10.1097/MEG.0b013e3282f36d04.

PMID:
18301294
19.

β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis.

Quinton P, Molyneux L, Ip W, Dupuis A, Avolio J, Tullis E, Conrad D, Shamsuddin AK, Durie P, Gonska T.

Am J Respir Crit Care Med. 2012 Oct 15;186(8):732-9. doi: 10.1164/rccm.201205-0922OC. Epub 2012 Aug 2.

PMID:
22859523
20.

Serum lipase levels as a diagnostic marker in cystic fibrosis patients with normal or borderline sweat tests.

Augarten A, Shmilovich H, Doolman R, Aviram M, Akons H, Ben Tur L, Blau H, Kerem E, Rivlin J, Sela BA, Szeinberg A, Yahav Y.

Pediatr Pulmonol. 2000 Oct;30(4):320-3.

PMID:
11015133

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