785 related articles for article (PubMed ID: 17594398)
1. Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.
Narzi L; Ferraguti G; Stamato A; Narzi F; Valentini SB; Lelli A; Delaroche I; Lucarelli M; Strom R; Quattrucci S
Clin Genet; 2007 Jul; 72(1):39-46. PubMed ID: 17594398
[TBL] [Abstract][Full Text] [Related]
2. Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?
Scotet V; Audrézet MP; Roussey M; Rault G; Dirou-Prigent A; Journel H; Moisan-Petit V; Storni V; Férec C
Pediatrics; 2006 Nov; 118(5):e1523-9. PubMed ID: 17015492
[TBL] [Abstract][Full Text] [Related]
3. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm.
Parad RB; Comeau AM
J Pediatr; 2005 Sep; 147(3 Suppl):S78-82. PubMed ID: 16202789
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 20522854
[TBL] [Abstract][Full Text] [Related]
5. 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; 6():25. PubMed ID: 17018149
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 10931414
[TBL] [Abstract][Full Text] [Related]
7. 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;
J Cyst Fibros; 2007 Jan; 6(1):57-65. PubMed ID: 16870510
[TBL] [Abstract][Full Text] [Related]
8. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
Thauvin-Robinet C; Munck A; Huet F; Génin E; Bellis G; Gautier E; Audrézet MP; Férec C; Lalau G; Georges MD; Claustres M; Bienvenu T; Gérard B; Boisseau P; Cabet-Bey F; Feldmann D; Clavel C; Bieth E; Iron A; Simon-Bouy B; Costa C; Medina R; Leclerc J; Hubert D; Nové-Josserand R; Sermet-Gaudelus I; Rault G; Flori J; Leroy S; Wizla N; Bellon G; Haloun A; Perez-Martin S; d'Acremont G; Corvol H; Clément A; Houssin E; Binquet C; Bonithon-Kopp C; Alberti-Boulmé C; Morris MA; Faivre L; Goossens M; Roussey M; ; Girodon E
J Med Genet; 2009 Nov; 46(11):752-8. PubMed ID: 19880712
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 16202788
[TBL] [Abstract][Full Text] [Related]
10. [Neonatal screening for cystic fibrosis].
Tellería Orriols JJ; Alonso Ramos MJ; Garrote Adrados JA; Fernández Carvajal I; Blanco Quirós A
An Esp Pediatr; 2002 Jul; 57(1):60-5. PubMed ID: 12139895
[TBL] [Abstract][Full Text] [Related]
11. Screening for cystic fibrosis: the importance of using the correct tools.
Shah U; Moatter T
J Ayub Med Coll Abbottabad; 2006; 18(1):7-10. PubMed ID: 16773960
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 16202790
[TBL] [Abstract][Full Text] [Related]
13. Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.
Patuzzo C; Castellani C; Sagramoso C; Gomez-Lira M; Bonamini D; Belpinati F; Dechecchi MC; Assael BM; Pignatti PF
Eur J Hum Genet; 2003 Jan; 11(1):93-6. PubMed ID: 12529713
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 15772171
[TBL] [Abstract][Full Text] [Related]
15. Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis.
Sarles J; Berthézène P; Le Louarn C; Somma C; Perini JM; Catheline M; Mirallié S; Luzet K; Roussey M; Farriaux JP; Berthelot J; Dagorn JC
J Pediatr; 2005 Sep; 147(3):302-5. PubMed ID: 16182665
[TBL] [Abstract][Full Text] [Related]
16. Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis.
Farrell PM; Koscik RE
Pediatrics; 1996 Apr; 97(4):524-8. PubMed ID: 8632940
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 12014388
[TBL] [Abstract][Full Text] [Related]
18. Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Scotet V; De Braekeleer M; Audrézet MP; Lodé L; Verlingue C; Quéré I; Mercier B; Duguépéroux I; Codet JP; Moineau MP; Parent P; Férec C
Clin Genet; 2001 Jan; 59(1):42-7. PubMed ID: 11168024
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 16243854
[TBL] [Abstract][Full Text] [Related]
20. Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis.
Mérelle ME; Scheffer H; De Jong D; Dankert-Roelse JE
Acta Paediatr; 2006 Nov; 95(11):1424-8. PubMed ID: 17062471
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]