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Journal Abstract Search

532 related items for PubMed ID: 19880712

  • 1. 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
    [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
    [Abstract] [Full Text] [Related]

  • 3. 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; 102(11):793-8. PubMed ID: 19734299
    [Abstract] [Full Text] [Related]

  • 4. 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; 7(2):110-5. PubMed ID: 17716958
    [Abstract] [Full Text] [Related]

  • 5. 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; 90(5):2004.e23-6. PubMed ID: 18703181
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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. PubMed ID: 17662673
    [Abstract] [Full Text] [Related]

  • 8. Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina.
    Roqué M, Godoy CP, Castellanos M, Pusiol E, Mayorga LS.
    Hum Mutat; 2001 Aug; 18(2):167. PubMed ID: 11462248
    [Abstract] [Full Text] [Related]

  • 9. [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
    Schwartz M.
    Ugeskr Laeger; 2003 Feb 24; 165(9):912-6. PubMed ID: 12661515
    [Abstract] [Full Text] [Related]

  • 10. Carrier frequency of F508del mutation of cystic fibrosis in Indian population.
    Kapoor V, Shastri SS, Kabra M, Kabra SK, Ramachandran V, Arora S, Balakrishnan P, Deorari AK, Paul VK.
    J Cyst Fibros; 2006 Jan 24; 5(1):43-6. PubMed ID: 16311077
    [Abstract] [Full Text] [Related]

  • 11. High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
    des Georges M, Guittard C, Altiéri JP, Templin C, Sarles J, Sarda P, Claustres M.
    J Cyst Fibros; 2004 Dec 24; 3(4):265-72. PubMed ID: 15698946
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  • 15. 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.
    Hum Mutat; 2003 Oct 24; 22(4):340. PubMed ID: 12955726
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  • 18. CFTR mutations in patients from Colombia: implications for local and regional molecular diagnosis programs.
    Keyeux G, Rodas C, Bienvenu T, Garavito P, Vidaud D, Sanchez D, Kaplan JC, Aristizábal G.
    Hum Mutat; 2003 Sep 24; 22(3):259. PubMed ID: 12938099
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  • 20. 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 24; 137(2):214-20. PubMed ID: 10931414
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