Guittard C - Search Results

1

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: guittard c. Hum Genet. 1999 Jul-Aug;105(1-2):145-50. doi: 10.1007/s004399900066. Hum Genet. 1999. PMID: 10480369

2

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

Desgeorges M, Mégarbané A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M. Desgeorges M, et al. Among authors: guittard c. Hum Genet. 1997 Aug;100(2):279-83. doi: 10.1007/s004390050505. Hum Genet. 1997. PMID: 9254864

3

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M. de Meeus A, et al. Among authors: guittard c. J Med Genet. 1998 Jul;35(7):594-6. doi: 10.1136/jmg.35.7.594. J Med Genet. 1998. PMID: 9678705 Free PMC article.

4

Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.

de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M. de Meeus A, et al. Among authors: guittard c. Hum Mutat. 1998;11(6):480. doi: 10.1002/(SICI)1098-1004(1998)11:6<480::AID-HUMU9>3.0.CO;2-4. Hum Mutat. 1998. PMID: 10200050

5

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.

Pallares-Ruiz N, Carles S, Des Georges M, Guittard C, Arnal F, Humeau C, Claustres M. Pallares-Ruiz N, et al. Among authors: guittard c. Hum Reprod. 1999 Dec;14(12):3035-40. doi: 10.1093/humrep/14.12.3035. Hum Reprod. 1999. PMID: 10601093

6

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: guittard c. 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

7

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.

Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, Pignatti PF, Kanavakis E, Tzetis M, Schwartz M, Novelli G, D'Apice MR, Sobczynska-Tomaszewska A, Bal J, Stuhrmann M, Macek M Jr, Claustres M, Cutting GR. Groman JD, et al. Among authors: guittard c. Am J Hum Genet. 2004 Jan;74(1):176-9. doi: 10.1086/381001. Epub 2003 Dec 18. Am J Hum Genet. 2004. PMID: 14685937 Free PMC article.

8

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Claustres M, Altiéri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M. Claustres M, et al. Among authors: guittard c. BMC Med Genet. 2004 Aug 2;5:19. doi: 10.1186/1471-2350-5-19. BMC Med Genet. 2004. PMID: 15287992 Free PMC article.

9

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. des Georges M, et al. Among authors: guittard c. J Cyst Fibros. 2004 Dec;3(4):265-72. doi: 10.1016/j.jcf.2004.04.008. J Cyst Fibros. 2004. PMID: 15698946 Free article.

10

Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

Bareil C, Guittard C, Altieri JP, Templin C, Claustres M, des Georges M. Bareil C, et al. Among authors: guittard c. J Mol Diagn. 2007 Nov;9(5):582-8. doi: 10.2353/jmoldx.2007.070040. J Mol Diagn. 2007. PMID: 17975025 Free PMC article.

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