BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

538 related articles for article (PubMed ID: 19014055)

  • 1. 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; 50(4):383-5. PubMed ID: 19014055
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis.
    van der Doef HP; Slieker MG; Staab D; Alizadeh BZ; Seia M; Colombo C; van der Ent CK; Nickel R; Witt H; Houwen RH
    J Pediatr Gastroenterol Nutr; 2010 Mar; 50(3):347-9. PubMed ID: 20179644
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 50(5):569-72. PubMed ID: 20386322
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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; 130(5):475-81. PubMed ID: 12143267
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene.
    Diana A; Tesse R; Polizzi AM; Santostasi T; Manca A; Leonetti G; Seia M; Porcaro L; Cavallo L
    Gene; 2012 Apr; 497(1):90-2. PubMed ID: 22310382
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cystic fibrosis mutations with widely variable phenotype: the D1152H example.
    Mussaffi H; Prais D; Mei-Zahav M; Blau H
    Pediatr Pulmonol; 2006 Mar; 41(3):250-4. PubMed ID: 16429425
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 42(3):147-50. PubMed ID: 10526657
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Serum CA 19-9 levels as a diagnostic marker in cystic fibrosis patients with borderline sweat tests.
    Augarten A; Berman H; Aviram M; Diver-Habber A; Akons H; Ben Tur L; Blau H; Kerem E; Rivlin J; Katznelson D; Szeinberg A; Kerem BS; Theodor L; Paret G; Yahav Y
    Clin Exp Med; 2003 Sep; 3(2):119-23. PubMed ID: 14598187
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel double mutant CF allele identified in a cystic fibrosis patient with meconium ileus.
    Steffann J; Vidaud D; Bousquet S; Jullien M; Ninot A; Kaplan JC; Beldjord C; Bienvenu T
    Ann Genet; 1998; 41(4):213-5. PubMed ID: 9881185
    [No Abstract]   [Full Text] [Related]  

  • 10. 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; 20(3):164-8. PubMed ID: 18301294
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].
    Iwańczak F; Smigiel R; Stawarski A; Pawłowicz J; Stembalska A; Mowszet K; Sasiadek M
    Pol Merkur Lekarski; 2005 Feb; 18(104):205-9. PubMed ID: 17877132
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).
    Capurso G; Sbrozzi-Vanni A; Piane M; Begini P; Panzuto F; Libi F; Margagnoni G; Capotondi C; Marignani M; Chessa L; Delle Fave G
    Pancreas; 2009 Jul; 38(5):599-601. PubMed ID: 19550280
    [No Abstract]   [Full Text] [Related]  

  • 13. Meconium ileus and pancreatic sufficiency with D1152H mutation: A case report and review of the literature.
    Lang E; Kiernan B; Muise ED; Giusti R
    J Cyst Fibros; 2023 Nov; 22(6):1125-1127. PubMed ID: 37423798
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation.
    Salvatore D; Tomaiuolo R; Abate R; Vanacore B; Manieri S; Mirauda MP; Scavone A; Schiavo MV; Castaldo G; Salvatore F
    J Cyst Fibros; 2004 Jun; 3(2):135-6. PubMed ID: 15463898
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 42(7):810-4. PubMed ID: 18360295
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Does presenting with meconium ileus affect the prognosis of children with cystic fibrosis?
    Johnson JA; Bush A; Buchdahl R
    Pediatr Pulmonol; 2010 Oct; 45(10):951-8. PubMed ID: 20672292
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.
    Ko JM; Kim GH; Kim KM; Hong SJ; Yoo HW
    J Korean Med Sci; 2008 Oct; 23(5):912-5. PubMed ID: 18955805
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype.
    Castaldo G; Tomaiuolo R; Vanacore B; Ferrara P; DEL Vecchio S; Carnovale V; Abete P; Rengo F; Salvatore F
    J Cyst Fibros; 2006 Aug; 5(3):193-5. PubMed ID: 16478680
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Meconium ileus in patients with cystic fibrosis is not a risk factor for clinical deterioration and survival: the Israeli Multicenter Study.
    Efrati O; Nir J; Fraser D; Cohen-Cymberknoh M; Shoseyov D; Vilozni D; Modan-Moses D; Levy R; Szeinberg A; Kerem E; Rivlin J
    J Pediatr Gastroenterol Nutr; 2010 Feb; 50(2):173-8. PubMed ID: 19668004
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus.
    Seia M; Cantù-Rajnoldi A; Ambrosioni A; Fiori S; Prandoni S; Corbetta C; Bassotti A; Moretti E; Giunta A; Padoan R
    Hum Mutat; 2000 Sep; 16(3):279. PubMed ID: 10980555
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 27.