Guittard C - Search Results

1

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

2

UMD-CFTR: a database dedicated to CF and CFTR-related disorders.

Bareil C, Thèze C, Béroud C, Hamroun D, Guittard C, René C, Paulet D, Georges Md, Claustres M. Bareil C, et al. Among authors: guittard c. Hum Mutat. 2010 Sep;31(9):1011-9. doi: 10.1002/humu.21316. Hum Mutat. 2010. PMID: 20607857

3

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

René C, Paulet D, Girodon E, Costa C, Lalau G, Leclerc J, Cabet-Bey F, Bienvenu T, Blayau M, Iron A, Mittre H, Feldmann D, Guittard C, Claustres M, Georges Md. René C, et al. Among authors: guittard c. Eur J Hum Genet. 2011 Jan;19(1):36-42. doi: 10.1038/ejhg.2010.137. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717170 Free PMC article.

4

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

5

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

6

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

7

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.

8

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.

9

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.

10

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.

Taulan M, Guittard C, Theze C, Claustres M, Georges Md. Taulan M, et al. Among authors: guittard c. Eur J Hum Genet. 2009 Dec;17(12):1683-7. doi: 10.1038/ejhg.2009.73. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436330 Free PMC article.

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