Ferec C - Search Results

1

Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.

Yenicesu I, Kalayci O, Semizel E, Kavak U, Gümrük F, Ferec C, Beutler E. Yenicesu I, et al. Among authors: ferec c. Turk J Pediatr. 2000 Oct-Dec;42(4):319-21. Turk J Pediatr. 2000. PMID: 11196750

2

Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype.

Yalçin E, Ozçelik U, Yilmaz E, Doğru D, Kiper N, Ferec C. Yalçin E, et al. Among authors: ferec c. Turk J Pediatr. 2008 Jul-Aug;50(4):383-5. Turk J Pediatr. 2008. PMID: 19014055

3

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. Feldmann D, et al. Among authors: ferec c. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726

4

Time trends in birth incidence of cystic fibrosis in two European areas: data from newborn screening programs.

Scotet V, Assael BM, Duguépéroux I, Tamanini A, Audrézet MP, Férec C, Castellani C. Scotet V, et al. Among authors: ferec c. J Pediatr. 2008 Jan;152(1):25-32. doi: 10.1016/j.jpeds.2007.07.046. Epub 2007 Oct 22. J Pediatr. 2008. PMID: 18154893

5

Cystic fibrosis mutations and genotype-pulmonary phenotype analysis.

Braun AT, Farrell PM, Ferec C, Audrezet MP, Laxova A, Li Z, Kosorok MR, Rosenberg MA, Gershan WM. Braun AT, et al. Among authors: ferec c. J Cyst Fibros. 2006 Jan;5(1):33-41. doi: 10.1016/j.jcf.2005.09.008. Epub 2005 Nov 4. J Cyst Fibros. 2006. PMID: 16275171 Free article. Clinical Trial.

6

Risk factors for the progression of cystic fibrosis lung disease throughout childhood.

Sanders DB, Li Z, Laxova A, Rock MJ, Levy H, Collins J, Ferec C, Farrell PM. Sanders DB, et al. Among authors: ferec c. Ann Am Thorac Soc. 2014 Jan;11(1):63-72. doi: 10.1513/AnnalsATS.201309-303OC. Ann Am Thorac Soc. 2014. PMID: 24261460 Free PMC article.

7

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. Scotet V, et al. Among authors: ferec c. Pediatrics. 2006 Nov;118(5):e1523-9. doi: 10.1542/peds.2005-3161. Epub 2006 Oct 2. Pediatrics. 2006. PMID: 17015492

8

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Kerschner JL, Ghosh S, Paranjapye A, Cosme WR, Audrézet MP, Nakakuki M, Ishiguro H, Férec C, Rommens J, Harris A. Kerschner JL, et al. Among authors: ferec c. J Mol Diagn. 2019 Jan;21(1):70-80. doi: 10.1016/j.jmoldx.2018.08.011. Epub 2018 Oct 5. J Mol Diagn. 2019. PMID: 30296588 Free PMC article.

9

[Diagnosis of cystic fibrosis in adults].

Chinet T, Fajac I, Ferec C, Garcia Carmona T, Nguyen-Khoa T. Chinet T, et al. Among authors: ferec c. Rev Mal Respir. 2000 Aug;17(3 Pt 2):739-48. Rev Mal Respir. 2000. PMID: 11076384 Review. French.

10

Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations.

Roussey M, Le Bihannic A, Scotet V, Audrezet MP, Blayau M, Dagorne M, David V, Deneuville E, Giniès JL, Laurans M, Moisan-Petit V, Rault G, Vigneron P, Férec C. Roussey M, et al. Among authors: ferec c. J Inherit Metab Dis. 2007 Aug;30(4):613. doi: 10.1007/s10545-007-0633-8. Epub 2007 Jul 12. J Inherit Metab Dis. 2007. PMID: 17632692

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