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Journal Abstract Search

365 related items for PubMed ID: 17127107

  • 21. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.
    Wilschanski M, Dupuis A, Ellis L, Jarvi K, Zielenski J, Tullis E, Martin S, Corey M, Tsui LC, Durie P.
    Am J Respir Crit Care Med; 2006 Oct 01; 174(7):787-94. PubMed ID: 16840743
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  • 22. A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens.
    Grangeia A, Carvalho F, Fernandes S, Silva J, Sousa M, Barros A.
    Fertil Steril; 2005 Feb 01; 83(2):448-51. PubMed ID: 15705389
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  • 23. Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype.
    Radpour R, Gourabi H, Gilani MA, Dizaj AV.
    J Androl; 2008 Feb 01; 29(1):35-40. PubMed ID: 17673436
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  • 24. Association of pancreas divisum and recurrent acute pancreatitis with the IVS8-5T-12TG allele of the CFTR gene and CFTR dysfunction.
    Dray X, Fajac I, Bienvenu T, Chryssostalis A, Sogni P, Hubert D.
    Pancreas; 2007 Jul 01; 35(1):90-3. PubMed ID: 17575549
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  • 25. Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis.
    Seia M, Costantino L, Paracchini V, Porcaro L, Capasso P, Coviello D, Corbetta C, Torresani E, Magazzù D, Consalvo V, Monti A, Costantini D, Colombo C.
    Clin Biochem; 2009 May 01; 42(7-8):611-6. PubMed ID: 19318035
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  • 26. The changing face of the exocrine pancreas in cystic fibrosis: the correlation between pancreatic status, pancreatitis and cystic fibrosis genotype.
    Augarten A, Ben Tov A, Madgar I, Barak A, Akons H, Laufer J, Efrati O, Aviram M, Bentur L, Blau H, Paret G, Wilschanski M, Kerem BS, Yahav Y.
    Eur J Gastroenterol Hepatol; 2008 Mar 01; 20(3):164-8. PubMed ID: 18301294
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  • 27. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
    Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E, collaborating working group on p.Arg117His.
    J Med Genet; 2013 Apr 01; 50(4):220-7. PubMed ID: 23378603
    [Abstract] [Full Text] [Related]

  • 28. Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis.
    Segal I, Yaakov Y, Adler SN, Blau H, Broide E, Santo M, Yahav Y, Klar A, Lerner A, Aviram M, Ellis I, Mountford R, Shteyer E, Kerem E, Wilschanski M.
    J Clin Gastroenterol; 2008 Aug 01; 42(7):810-4. PubMed ID: 18360295
    [Abstract] [Full Text] [Related]

  • 29. 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
    [Abstract] [Full Text] [Related]

  • 30. Atypical CF and CF related diseases.
    Kerem E.
    Paediatr Respir Rev; 2006 Oct 03; 7 Suppl 1():S144-6. PubMed ID: 16798544
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  • 36. Nasal potential difference in suspected cystic fibrosis patients with 5T polymorphism.
    Aalbers BL, Yaakov Y, Derichs N, Simmonds NJ, De Wachter E, Melotti P, De Boeck K, Leal T, Tümmler B, Wilschanski M, Bronsveld I.
    J Cyst Fibros; 2020 Jul 03; 19(4):627-631. PubMed ID: 31331863
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  • 38. Cystic fibrosis as a cause of infertility.
    Jarzabek K, Zbucka M, Pepiński W, Szamatowicz J, Domitrz J, Janica J, Wołczyński S, Szamatowicz M.
    Reprod Biol; 2004 Jul 03; 4(2):119-29. PubMed ID: 15297887
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