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Journal Abstract Search

766 related items for PubMed ID: 12723646

  • 21.
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  • 23. Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
    Casals T, Pacheco P, Barreto C, Giménez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vázquez C, Rocha H, Séculi JL, Pérez E, Dapena J, Carrilho E, Duarte A, Palacio AM, Nunes V, Lavinha J, Estivill X.
    Hum Mutat; 1997; 10(5):387-92. PubMed ID: 9375855
    [Abstract] [Full Text] [Related]

  • 24. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data.
    Derichs N, Sanz J, Von Kanel T, Stolpe C, Zapf A, Tümmler B, Gallati S, Ballmann M.
    Thorax; 2010 Jul; 65(7):594-9. PubMed ID: 20627915
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  • 25. 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
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  • 27. Association of CFTR gene mutation with bronchial asthma and its severity in Indian children: a case-control study.
    Awasthi S, Maurya N, Agarwal S, Dixit P, Muthuswamy S, Singh S.
    Ann Hum Biol; 2012 Mar; 39(2):113-21. PubMed ID: 22324837
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  • 28. [Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis].
    Radivojević D, Guć-Sćekić M, Djurisić M, Lalić T, Minić P, Kanavakis E.
    Srp Arh Celok Lek; 2001 Mar; 129 Suppl 1():6-9. PubMed ID: 15637983
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  • 29. Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study.
    Monaghan KG, Feldman GL, Barbarotto GM, Manji S, Desai TK, Snow K.
    Am J Med Genet; 2000 Dec 11; 95(4):361-5. PubMed ID: 11186891
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  • 33. Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results.
    Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, Clement A.
    Chest; 2000 Dec 11; 118(6):1591-7. PubMed ID: 11115444
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  • 34. [A case report of cystic fibrosis and review of 16 cases of cystic fibrosis in Chinese patients].
    Li N, He B, Wang GF, Tang XY.
    Zhonghua Jie He He Hu Xi Za Zhi; 2003 Sep 11; 26(9):559-62. PubMed ID: 14521762
    [Abstract] [Full Text] [Related]

  • 35. 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 11; 42(7):810-4. PubMed ID: 18360295
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  • 36. Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.
    Keiles S, Koepke R, Parad R, Kharrazi M, California Cystic Fibrosis Newborn Screening Consortium.
    J Cyst Fibros; 2012 May 11; 11(3):257-60. PubMed ID: 22209734
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  • 37. Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.
    Stanke F, Ballmann M, Bronsveld I, Dörk T, Gallati S, Laabs U, Derichs N, Ritzka M, Posselt HG, Harms HK, Griese M, Blau H, Mastella G, Bijman J, Veeze H, Tümmler B.
    J Med Genet; 2008 Jan 11; 45(1):47-54. PubMed ID: 18178635
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  • 38. A simplified cyclic adenosine monophosphate-mediated sweat rate test for quantitative measure of cystic fibrosis transmembrane regulator (CFTR) function.
    Callen A, Diener-West M, Zeitlin PL, Rubenstein RC.
    J Pediatr; 2000 Dec 11; 137(6):849-55. PubMed ID: 11113843
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  • 39. Non-classic cystic fibrosis associated with D1152H CFTR mutation.
    Burgel PR, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labbé A, Domblides P, Vic P, Dagorne M, Reynaud-Gaubert M, Counil F, Varaigne F, Bienvenu T, Bellis G, Dusser D.
    Clin Genet; 2010 Apr 11; 77(4):355-64. PubMed ID: 19843100
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  • 40. Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFTR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis.
    Moutou C, Gardes N, Viville S.
    Eur J Hum Genet; 2002 Apr 11; 10(4):231-8. PubMed ID: 12032730
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