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Journal Abstract Search

150 related items for PubMed ID: 25697321

  • 1. [Phenotypic variability of cystic fibrosis: case report of twins with F508/F508 mutation].
    Hernández-Amaris MF, Gómez-Vásquez AM, Pachajua H H.
    Rev Chil Pediatr; 2014 Jul; 85(4):470-5. PubMed ID: 25697321
    [Abstract] [Full Text] [Related]

  • 2. Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.
    Hamosh A, King TM, Rosenstein BJ, Corey M, Levison H, Durie P, Tsui LC, McIntosh I, Keston M, Brock DJ.
    Am J Hum Genet; 1992 Aug; 51(2):245-50. PubMed ID: 1379413
    [Abstract] [Full Text] [Related]

  • 3. Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry.
    Feingold J, Guilloud-Bataille M.
    Ann Genet; 1999 Aug; 42(3):147-50. PubMed ID: 10526657
    [Abstract] [Full Text] [Related]

  • 4. Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).
    Puzik A, Morris-Rosendahl DJ, Rückauer KD, Otto C, Gessler P, Saueressig U, Hentschel R.
    BMC Pediatr; 2014 Jan 17; 14():13. PubMed ID: 24433235
    [Abstract] [Full Text] [Related]

  • 5. Meconium ileus in newborns with cystic fibrosis - results of treatment in the group of patients operated on in the years 2000-2014.
    Boczar M, Sawicka E, Zybert K.
    Dev Period Med; 2015 Jan 17; 19(1):32-40. PubMed ID: 26003068
    [Abstract] [Full Text] [Related]

  • 6. [Correlation between phenotype and genotype in a group of patients with cystic fibrosis].
    Navarro H, Kolbach M, Repetto G, Guiraldes E, Harris P, Foradori A, Poggi H, Sánchez I.
    Rev Med Chil; 2002 May 17; 130(5):475-81. PubMed ID: 12143267
    [Abstract] [Full Text] [Related]

  • 7. Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.
    Bronsveld I, Mekus F, Bijman J, Ballmann M, de Jonge HR, Laabs U, Halley DJ, Ellemunter H, Mastella G, Thomas S, Veeze HJ, Tümmler B.
    J Clin Invest; 2001 Dec 17; 108(11):1705-15. PubMed ID: 11733566
    [Abstract] [Full Text] [Related]

  • 8. [A retrospective study of delta F508 mutation in 22 patients operated on for meconium ileus].
    Queizan A, Palacios J, Limeres MD, Vallejo D, Gamallo C, Molano J.
    Cir Pediatr; 1995 Apr 17; 8(2):81-4. PubMed ID: 7766485
    [Abstract] [Full Text] [Related]

  • 9. Is the hemochromatosis gene a modifier locus for cystic fibrosis?
    Rohlfs EM, Shaheen NJ, Silverman LM.
    Genet Test; 1998 Apr 17; 2(1):85-8. PubMed ID: 10464603
    [Abstract] [Full Text] [Related]

  • 10. Meconium Ileus, Distal Intestinal Obstruction Syndrome, and Other Gastrointestinal Pathology in the Cystic Fibrosis Patient.
    Tobias J, Tillotson M, Maloney L, Fialkowski E.
    Surg Clin North Am; 2022 Oct 17; 102(5):873-882. PubMed ID: 36209752
    [Abstract] [Full Text] [Related]

  • 11. 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.
    Turk J Pediatr; 2008 Oct 17; 50(4):383-5. PubMed ID: 19014055
    [Abstract] [Full Text] [Related]

  • 12. [Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].
    Repetto G, Poggi H, Harris P, Navarro H, Sánchez I, Guiraldes E, Pérez MA, Boza ML, Hunter B, Wevar ME, Mediavilla M, Foradori A.
    Rev Med Chil; 2001 Aug 17; 129(8):841-7. PubMed ID: 11680956
    [Abstract] [Full Text] [Related]

  • 13. Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.
    Dupuis A, Keenan K, Ooi CY, Dorfman R, Sontag MK, Naehrlich L, Castellani C, Strug LJ, Rommens JM, Gonska T.
    Genet Med; 2016 Apr 17; 18(4):333-40. PubMed ID: 26087176
    [Abstract] [Full Text] [Related]

  • 14. Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities.
    Li W, Soave D, Miller MR, Keenan K, Lin F, Gong J, Chiang T, Stephenson AL, Durie P, Rommens J, Sun L, Strug LJ.
    Hum Genet; 2014 Feb 17; 133(2):151-61. PubMed ID: 24057835
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  • 18. [Two cases of cystic fibrosis in Japanese/German twins].
    Hojo S, Fujita J, Obayashi Y, Ohnishi T, Yamaji Y, Okada H, Takahara J.
    Nihon Kyobu Shikkan Gakkai Zasshi; 1997 Nov 17; 35(11):1259-64. PubMed ID: 9493456
    [Abstract] [Full Text] [Related]

  • 19. Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.
    Lin CJ, Chang SP, Ke YY, Chiu HY, Tsao LY, Chen M.
    Pediatr Neonatol; 2008 Dec 17; 49(6):240-4. PubMed ID: 19166122
    [Abstract] [Full Text] [Related]

  • 20. Clinical and genetic characteristics of meconium ileus in newborns with and without cystic fibrosis.
    Gorter RR, Karimi A, Sleeboom C, Kneepkens CM, Heij HA.
    J Pediatr Gastroenterol Nutr; 2010 May 17; 50(5):569-72. PubMed ID: 20386322
    [Abstract] [Full Text] [Related]

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