Bozon D - Search Results

1

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: bozon d. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726

2

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: bozon d. 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

3

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

Romey MC, Guittard C, Chazalette JP, Frossard P, Dawson KP, Patton MA, Casals T, Bazarbachi T, Girodon E, Rault G, Bozon D, Seguret F, Demaille J, Claustres M. Romey MC, et al. Among authors: bozon d. Hum Genet. 1999 Jul-Aug;105(1-2):145-50. doi: 10.1007/s004399900066. Hum Genet. 1999. PMID: 10480369

4

Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene.

Chevalier-Porst F, Souche G, Bozon D. Chevalier-Porst F, et al. Among authors: bozon d. Hum Mutat. 2005 May;25(5):504. doi: 10.1002/humu.9335. Hum Mutat. 2005. PMID: 15841482

5

Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population.

Vidaud M, Kitzis A, Ferec C, Bozon D, Dumur V, Giraud G, David F, Pascal O, Auvinet M, Morel Y, et al. Vidaud M, et al. Among authors: bozon d. Hum Genet. 1989 Jan;81(2):183-4. doi: 10.1007/BF00293899. Hum Genet. 1989. PMID: 2563252

6

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.

Bozon D, Zielenski J, Rininsland F, Tsui LC. Bozon D, et al. Hum Mutat. 1994;3(3):330-2. doi: 10.1002/humu.1380030329. Hum Mutat. 1994. PMID: 7517268 No abstract available.

7

40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the Cystic Fibrosis Transmembrane Conductance Regulator gene.

Chevalier-Porst F, Bonardot AM, Chazalette JP, Mathieu M, Bozon D. Chevalier-Porst F, et al. Among authors: bozon d. Hum Mutat. 1998;Suppl 1:S291-4. doi: 10.1002/humu.1380110191. Hum Mutat. 1998. PMID: 9452112 No abstract available.

8

Identification of 5 novel mutations in the AGXT gene.

Basmaison O, Rolland MO, Cochat P, Bozon D. Basmaison O, et al. Among authors: bozon d. Hum Mutat. 2000 Jun;15(6):577. doi: 10.1002/1098-1004(200006)15:6<577::AID-HUMU9>3.0.CO;2-#. Hum Mutat. 2000. PMID: 10862087

9

Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1.

Nogueira PK, Vuong TS, Bouton O, Maillard A, Marchand M, Rolland MO, Cochat P, Bozon D. Nogueira PK, et al. Among authors: bozon d. Hum Mutat. 2000 Apr;15(4):384-5. doi: 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU20>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10737993

10

IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.

Birot AM, Bouton O, Froissart R, Maire I, Bozon D. Birot AM, et al. Among authors: bozon d. Hum Mutat. 1996;8(1):44-50. doi: 10.1002/(SICI)1098-1004(1996)8:1<44::AID-HUMU6>3.0.CO;2-P. Hum Mutat. 1996. PMID: 8807335

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