BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 10790222)

  • 1. A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.
    Padoan R; Bassotti A; Seia M; Ambrosioni A; Fiori S; Prandoni S; Rajnoldi AC; Giunta A; Corbetta C
    Hum Mutat; 2000 May; 15(5):485. PubMed ID: 10790222
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.
    Seia M; Cantù-Rajnoldi A; Ambrosioni A; Fiori S; Bassotti A; Pizzamiglio G; Giunta A; Padoan R
    Hum Mutat; 2000 Dec; 16(6):532-3. PubMed ID: 11102992
    [No Abstract]   [Full Text] [Related]  

  • 3. A novel missense mutation, S1159F, in exon 19 of the CFTR gene.
    Seydewitz HH; Mall M; Kuehr J
    Hum Mutat; 2000 Apr; 15(4):390. PubMed ID: 10738007
    [No Abstract]   [Full Text] [Related]  

  • 4. Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10.
    Morokawa N; Iizuka S; Tanano A; Katsube A; Muraji T; Eto Y; Yoshimura K
    Hum Mutat; 2000 May; 15(5):485. PubMed ID: 10790220
    [No Abstract]   [Full Text] [Related]  

  • 5. 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; 95(4):361-5. PubMed ID: 11186891
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.
    Padoan R; Costantini D; Russo MC; Ambrosioni A; Fiori S; Prandoni S; Cantù-Rajnoldi A; Seia M; Giunta A
    Hum Mutat; 2000 May; 15(5):486. PubMed ID: 10790225
    [No Abstract]   [Full Text] [Related]  

  • 10. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.
    Alibakhshi R; Zamani M
    Iran J Allergy Asthma Immunol; 2006 Mar; 5(1):3-8. PubMed ID: 17242497
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
    Leoni GB; Pitzalis S; Tonelli R; Cao A
    Hum Mutat; 1998; 11(4):337. PubMed ID: 9554753
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene.
    Feldmann D; Laroze F; Troadec C; Clement A; Tournier G; Couderc R
    Hum Mutat; 2001 Apr; 17(4):356. PubMed ID: 11295849
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. Three novel mutations in the CFTR gene identified in Galician patients.
    Rana-Díez P; Colón C; Alonso-Fernández JR; Solar A; Barros-Tizón JC; Barros-Casas D; Sirvent J; Carracedo A; Barros F
    J Cyst Fibros; 2008 Nov; 7(6):520-2. PubMed ID: 18676185
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Turkish infant with hypoelectrolytemia and metabolic alkalosis as the sole manifestations of a mild form of cystic fibrosis (mutation D110H)].
    Weller F; Wiebicke W; Tümmler B
    Klin Padiatr; 2000; 212(1):41-3. PubMed ID: 10719683
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a cystic fibrosis mutation W19X in Tunisia.
    Boudaya M; Fredj SH; Siala H; Bibi A; Messaoud T
    Ann Biol Clin (Paris); 2013; 71(2):223-6. PubMed ID: 23587593
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
    Dorfman R; Nalpathamkalam T; Taylor C; Gonska T; Keenan K; Yuan XW; Corey M; Tsui LC; Zielenski J; Durie P
    Clin Genet; 2010 May; 77(5):464-73. PubMed ID: 20059485
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rare F311L CFTR gene mutation in a child presented with recurrent electrolyte abnormalities and metabolic alkalosis: case report.
    Lumpaopong A; Thirakhupt P; Srisuwan K; Chulamokha Y
    J Med Assoc Thai; 2009 May; 92(5):694-8. PubMed ID: 19459534
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 3(4):265-72. PubMed ID: 15698946
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.