135 related articles for article (PubMed ID: 10980555)
1. 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]
2. 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]
3. 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]
4. A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene.
Seydewitz HH; Gonska T; Mall M; Kueh J
Hum Mutat; 2000 Sep; 16(3):277. PubMed ID: 10980550
[No Abstract] [Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. A new frameshift mutation 460delG in exon 4 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Wagner K; Schneditz P; Rosenkranz W
Hum Mutat; 1996; 7(2):183. PubMed ID: 8829644
[No Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina.
Roqué M; Godoy CP; Castellanos M; Pusiol E; Mayorga LS
Hum Mutat; 2001 Aug; 18(2):167. PubMed ID: 11462248
[TBL] [Abstract][Full Text] [Related]
14. Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.
Kusic J; Radojkovic D; Cuppens H; Jaspers M; Tomic J; Savic A
Hum Mutat; 1999 Oct; 14(4):357. PubMed ID: 10502789
[No Abstract] [Full Text] [Related]
15. Is the hemochromatosis gene a modifier locus for cystic fibrosis?
Rohlfs EM; Shaheen NJ; Silverman LM
Genet Test; 1998; 2(1):85-8. PubMed ID: 10464603
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
Salvatore F; Scudiero O; Castaldo G
Am J Med Genet; 2002 Jul; 111(1):88-95. PubMed ID: 12124743
[TBL] [Abstract][Full Text] [Related]
18. Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis.
Feuillet-Fieux MN; Sermet I; Edelman A; Torossi T; Ferrec M; Guillot M; Lenoir G; Bonnefont JP; Thuillier L
Hum Mutat; 2000 Jul; 16(1):95. PubMed ID: 10874326
[No Abstract] [Full Text] [Related]
19. 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]
20. Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
Girardet A; Guittard C; Altieri JP; Templin C; Stremler N; Beroud C; des Georges M; Claustres M
Clin Genet; 2007 Oct; 72(4):374-7. PubMed ID: 17850636
[No Abstract] [Full Text] [Related]
[Next] [New Search]
