Iron A - Search Results

1

Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.

Reboul MP, Bieth E, Fayon M, Biteau N, Barbier R, Dromer C, Desgeorges M, Claustres M, Bremont F, Lacombe D, Iron A. Reboul MP, et al. Among authors: iron a. J Med Genet. 2002 Nov;39(11):e73. doi: 10.1136/jmg.39.11.e73. J Med Genet. 2002. PMID: 12414835 Free PMC article. No abstract available.

2

[CFTR gene analyis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6bA>G mutations].

Federici S, Iron A, Reboul MP, Desgeorges M, Claustres M, Bremont F, Bieth E. Federici S, et al. Among authors: iron a. Arch Pediatr. 2001 Feb;8(2):150-7. doi: 10.1016/s0929-693x(00)00177-9. Arch Pediatr. 2001. PMID: 11232455 French.

3

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. Among authors: iron a. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603

4

Isolated idiopathic chronic pancreatitis associated with a compound heterozygosity for two mutations of the CFTR gene.

Reboul MP, Laharie D, Amouretti M, Lacombe D, Iron A. Reboul MP, et al. Among authors: iron a. Gastroenterol Clin Biol. 2003 Aug-Sep;27(8-9):821-4. Gastroenterol Clin Biol. 2003. PMID: 14586256 Free article. Review.

5

Rapid and accurate detection of the CFTR gene mutation 1811+1.6 kbA>G by real-time fluorescence resonance energy transfer PCR.

Reboul MP, Higueret L, Biteau N, Iron A. Reboul MP, et al. Among authors: iron a. Mol Cell Probes. 2005 Oct;19(5):358-62. doi: 10.1016/j.mcp.2005.06.010. Mol Cell Probes. 2005. PMID: 16144754

6

Mosaic maternal uniparental isodisomy for chromosome 7q21-qter.

Reboul MP, Tandonnet O, Biteau N, Belet-de Putter C, Rebouissoux L, Moradkhani K, Vu PY, Saura R, Arveiler B, Lacombe D, Taine L, Iron A. Reboul MP, et al. Among authors: iron a. Clin Genet. 2006 Sep;70(3):207-13. doi: 10.1111/j.1399-0004.2006.00664.x. Clin Genet. 2006. PMID: 16922723

7

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.

Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H; Girodon E. Thauvin-Robinet C, et al. Among authors: iron a. J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29. J Med Genet. 2009. PMID: 19880712

8

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Claustres M, et al. Among authors: iron a. Hum Mutat. 2000;16(2):143-56. doi: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10923036

9

Renal impairment in children with cystic fibrosis.

Andrieux A, Harambat J, Bui S, Nacka F, Iron A, Llanas B, Fayon M. Andrieux A, et al. Among authors: iron a. J Cyst Fibros. 2010 Jul;9(4):263-8. doi: 10.1016/j.jcf.2010.03.006. Epub 2010 Apr 21. J Cyst Fibros. 2010. PMID: 20413352 Free article.

10

CFTR genotypes in patients with normal or borderline sweat chloride levels.

Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E. Feldmann D, et al. Among authors: iron a. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726

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