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Journal Abstract Search

797 related items for PubMed ID: 17015492

  • 1. 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
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  • 2. 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, Collaborating Working Group on R117H, Girodon E.
    J Med Genet; 2009 Nov; 46(11):752-8. PubMed ID: 19880712
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  • 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 03; 6():25. PubMed ID: 17018149
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  • 6. Clinical phenotype of cystic fibrosis patients with the G551D mutation.
    Comer DM, Ennis M, McDowell C, Beattie D, Rendall J, Hall V, Elborn JS.
    QJM; 2009 Nov 03; 102(11):793-8. PubMed ID: 19734299
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  • 11. 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 08; 347(6):401-7. PubMed ID: 12167682
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  • 12. Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.
    Peckham D, Conway SP, Morton A, Jones A, Webb K.
    J Cyst Fibros; 2006 Jan 08; 5(1):63-5. PubMed ID: 16266832
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  • 13. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
    Brugnon F, Bilan F, Heraud MC, Grizard G, Janny L, Creveaux I.
    Fertil Steril; 2008 Nov 08; 90(5):2004.e23-6. PubMed ID: 18703181
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  • 14. 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 08; 7(2):102-9. PubMed ID: 17662673
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  • 15. Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.
    Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PS.
    J Cyst Fibros; 2008 Mar 08; 7(2):110-5. PubMed ID: 17716958
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  • 17. Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.
    Danziger KL, Black LD, Keiles SB, Kammesheidt A, Turek PJ.
    Hum Reprod; 2004 Mar 08; 19(3):540-6. PubMed ID: 14998948
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  • 20. 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 08; 46(11):1079-84. PubMed ID: 21538969
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