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Items: 1 to 20 of 182

1.

Demographics of the UK cystic fibrosis population: implications for neonatal screening.

McCormick J, Green MW, Mehta G, Culross F, Mehta A.

Eur J Hum Genet. 2002 Oct;10(10):583-90.

2.

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
3.

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.

4.

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.

Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H.

J Cyst Fibros. 2008 Mar;7(2):102-9. Epub 2007 Jul 27.

5.

Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.

Schaedel C, Hjelte L, de Monestrol I, Johannesson M, Kollberg H, Kornfält R, Holmberg L.

Clin Genet. 1999 Oct;56(4):318-22.

PMID:
10636451
6.

Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels.

Massie RJ, Wilcken B, Van Asperen P, Dorney S, Gruca M, Wiley V, Gaskin K.

J Pediatr. 2000 Aug;137(2):214-20.

PMID:
10931414
7.

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.

Hum Mutat. 2002 Jun;19(6):575-606. Review.

PMID:
12007216
8.

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
9.

Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing.

Rock MJ, Hoffman G, Laessig RH, Kopish GJ, Litsheim TJ, Farrell PM.

J Pediatr. 2005 Sep;147(3 Suppl):S73-7.

PMID:
16202788
10.

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes.

Sontag MK, Hammond KB, Zielenski J, Wagener JS, Accurso FJ.

J Pediatr. 2005 Sep;147(3 Suppl):S83-8.

PMID:
16202790
11.

Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.

Duguépéroux I, Bellis G, Lesure JF, Renouil M, Flodrops H, De Braekeleer M.

J Cyst Fibros. 2004 Aug;3(3):185-8.

12.

Cystic fibrosis mutations in Costa Rica.

Venegas PB, Novak JM, Oscar CA, Sánchez FL, Gutiérrez IG, Rivera JM, Salas JP, Montero JF, Grody WW.

Hum Biol. 2003 Apr;75(2):179-88.

PMID:
12943157
13.

Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newborns.

Lecoq I, Brouard J, Laroche D, Férec C, Travert G.

Acta Paediatr. 1999 Mar;88(3):338-41.

PMID:
10229049
14.

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.

15.

Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing.

Massie J, Curnow L, Tzanakos N, Francis I, Robertson CF.

Arch Dis Child. 2006 Mar;91(3):222-5. Epub 2005 Oct 21.

16.

Newborn Screening for Cystic Fibrosis in California.

Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S, Pearl M, Chow H, Ho T, Currier R, Gaffney L, Feuchtbaum L; California Cystic Fibrosis Newborn Screening Consortium.

Pediatrics. 2015 Dec;136(6):1062-72. doi: 10.1542/peds.2015-0811. Epub 2015 Nov 16.

17.

Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods.

Gregg RG, Simantel A, Farrell PM, Koscik R, Kosorok MR, Laxova A, Laessig R, Hoffman G, Hassemer D, Mischler EH, Splaingard M.

Pediatrics. 1997 Jun;99(6):819-24.

PMID:
9164776
18.

Lessons learned from 20 years of newborn screening for cystic fibrosis.

Massie RJ, Curnow L, Glazner J, Armstrong DS, Francis I.

Med J Aust. 2012 Jan 16;196(1):67-70.

PMID:
22256939
19.

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.

20.

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

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