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]