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Items: 1 to 20 of 173

1.

Cystic fibrosis: terminology and diagnostic algorithms.

De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M; Diagnostic Working Group.

Thorax. 2006 Jul;61(7):627-35. Epub 2005 Dec 29. Review.

2.

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
3.

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
4.

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.

5.
6.

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
7.

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
8.

[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
9.

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
10.

Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome.

Ren CL, Desai H, Platt M, Dixon M.

Pediatr Pulmonol. 2011 Nov;46(11):1079-84. doi: 10.1002/ppul.21475. Epub 2011 Apr 29.

PMID:
21538969
11.

Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.

Sermet-Gaudelus I, Girodon E, Sands D, Stremmler N, Vavrova V, Deneuville E, Reix P, Bui S, Huet F, Lebourgeois M, Munck A, Iron A, Skalicka V, Bienvenu T, Roussel D, Lenoir G, Bellon G, Sarles J, Macek M, Roussey M, Fajac I, Edelman A.

Am J Respir Crit Care Med. 2010 Oct 1;182(7):929-36. doi: 10.1164/rccm.201003-0382OC. Epub 2010 Jun 10.

PMID:
20538955
12.

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
13.

Non-classic cystic fibrosis associated with D1152H CFTR mutation.

Burgel PR, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labbé A, Domblides P, Vic P, Dagorne M, Reynaud-Gaubert M, Counil F, Varaigne F, Bienvenu T, Bellis G, Dusser D.

Clin Genet. 2010 Apr;77(4):355-64. doi: 10.1111/j.1399-0004.2009.01294.x. Epub 2009 Oct 15.

PMID:
19843100
14.

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
15.

Screening for cystic fibrosis: the importance of using the correct tools.

Shah U, Moatter T.

J Ayub Med Coll Abbottabad. 2006 Jan-Mar;18(1):7-10.

PMID:
16773960
16.

[Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis].

Radivojević D, Guć-Sćekić M, Djurisić M, Lalić T, Minić P, Kanavakis E.

Srp Arh Celok Lek. 2001 May-Jun;129 Suppl 1:6-9. Serbian.

PMID:
15637983
17.

The diagnosis of cystic fibrosis.

De Boeck K, Vermeulen F, Dupont L.

Presse Med. 2017 Jun;46(6 Pt 2):e97-e108. doi: 10.1016/j.lpm.2017.04.010. Epub 2017 May 31. Review.

PMID:
28576637
18.

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel.

Rosenstein BJ, Cutting GR.

J Pediatr. 1998 Apr;132(4):589-95. Review.

PMID:
9580754
19.

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.

20.

Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype.

De Boeck K, Weren M, Proesmans M, Kerem E.

Pediatrics. 2005 Apr;115(4):e463-9. Epub 2005 Mar 16.

PMID:
15772171

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