A healthy male with compound and double heterozygosities for delta F508, F508C, and M47OV in exon 10 of the cystic fibrosis gene.

Por Desgeorges, M., Kjellberg, P., Demaille, J., Claustres, M.
Publicado em 1994

Severe pulmonary and digestive disease in a cystic fibrosis child homozygous for G542X.

Por Desgeorges, M, Laussel, M, Rollin, B, Demaille, J, Claustres, M
Publicado em 1994

First putative sequence alterations in the minimal CFTR promoter region

Por ROMEY, M., GUITTARD, C., CARLES, S., DEMAILLE, J., CLAUSTRES, M., RAMSAY, M.
Publicado em 1999

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

Por de Meeus, A, Guittard, C, Desgeorges, M, Carles, S, Demaille, J, Claustres, M
Publicado em 1998

Is isolated idiopathic pancreatitis associated with CFTR mutations?

Por PALLARES-RUIZ, N, CARLES, S, GEORGES, M, GUITTARD, C, CLAUSTRES, M, LARREY, D, PAGEAUX, G
Publicado em 2000

CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles.

Por Meschede, D, Dworniczak, B, Behre, H M, Kliesch, S, Claustres, M, Nieschlag, E, Horst, J
Publicado em 1997

No evidence of allelic heterogeneity in the DYT1 gene of European patients with early onset torsion dystonia

Por Tuffery-Giraud, S., Cavalier, L., Roubertie, A., Guittard, C., Carles, S., Calvas, P., Echenne, B., Coubes, P., Claustres, M.
Publicado em 2001

First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

Por Carles, S, Desgeorges, M, Goldman, A, Thiart, R, Guittard, C, Kitazos, C A, de Ravel, T J, Westwood, A T, Claustres, M, Ramsay, M
Publicado em 1996

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of abov...

Por Roux, A‐F, Faugère, V, Guédard, S Le, Pallares‐Ruiz, N, Vielle, A, Chambert, S, Marlin, S, Hamel, C, Gilbert, B, Malcolm, S, Claustres, M
Publicado em 2006

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

Por Reboul, M, Bieth, E, Fayon, M, Biteau, N, Barbier, R, Dromer, C, Desgeorges, M, Claustres, M, Bremont, F, Lacombe, D, Iron, A
Publicado em 2002

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations.

Por Dörk, T, El-Harith, E H, Stuhrmann, M, Macek, M, Egan, M, Cutting, G R, Tzetis, M, Kanavakis, E, Carles, S, Claustres, M, Padoa, C, Ramsay, M, Schmidtke, J
Publicado em 1998

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

Por Baux, D., Vaché, C., Blanchet, C., Willems, M., Baudoin, C., Moclyn, M., Faugère, V., Touraine, R., Isidor, B., Dupin-Deguine, D., Nizon, M., Vincent, M., Mercier, S., Calais, C., García-García, G., Azher, Z., Lambert, L., Perdomo-Trujillo, Y., Giuliano, F., Claustres, M., Koenig, M., Mondain, M., Roux, A. F.
Publicado no Sci Rep (2017)

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Por Faivre, L, Collod-Beroud, G, Callewaert, B, Child, A, Binquet, C, Gautier, E, Loeys, B L, Arbustini, E, Mayer, K, Arslan-Kirchner, M, Stheneur, C, Kiotsekoglou, A, Comeglio, P, Marziliano, N, Wolf, J E, Bouchot, O, Khau-Van-Kien, P, Beroud, C, Claustres, M, Bonithon-Kopp, C, Robinson, P N, Adès, L, De Backer, J, Coucke, P, Francke, U, De Paepe, A, Jondeau, G, Boileau, C
Publicado em 2009

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Por Castellani, C., Cuppens, H., Macek, M., Cassiman, J.J., Kerem, E., Durie, P., Tullis, E., Assael, B.M., Bombieri, C., Brown, A., Casals, T., Claustres, M., Cutting, G.R., Dequeker, E., Dodge, J., Doull, I., Farrell, P., Ferec, C., Girodon, E., Johannesson, M., Kerem, B., Knowles, M., Munck, A., Pignatti, P.F., Radojkovic, D., Rizzotti, P., Schwarz, M., Stuhrmann, M., Tzetis, M., Zielenski, J., Elborn, J.S.
Publicado em 2008

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Por Faivre, L. , Collod-Beroud, G. , Loeys, B. L. , Child, A. , Binquet, C. , Gautier, E. , Callewaert, B. , Arbustini, E. , Mayer, K. , Arslan-Kirchner, M. , Kiotsekoglou, A. , Comeglio, P. , Marziliano, N. , Dietz, H. C. , Halliday, D. , Beroud, C. , Bonithon-Kopp, C. , Claustres, M. , Muti, C. , Plauchu, H. , Robinson, P. N. , Adès, L. C. , Biggin, A. , Benetts, B. , Brett, M. , Holman, K. J. , De Backer, J. , Coucke, P. , Francke, U. , De Paepe, A. , Jondeau, G. , Boileau, C. 
Publicado em 2007

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

Por Amaral, M., Pacheco, P., Beck, S., Farinha, C., Penque, D., Nogueira, P., Barreto, C., Lopes, B., Casals, T., Dapena, J., Gartner, S., Vasquez, C., Perez-Frias, J., Olveira, C., Cabanas, R., Estivill, X., Tzetis, M., Kanavakis, E., Doudounakis, S., Dork, T., Tummler, B., Girodon-Boulandet, E., Cazeneuve, C., Goossens, M., Blayau, M., Verlingue, C., Vieira, I., Ferec, C., Claustres, M., Georges, M. d., Clavel, C., Birembaut, P., Hubert, D., Bienvenu, T., Adoun, M., Chomel, J., De Boeck, K., Cuppens, H., Lavinha, J.
Publicado em 2001

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.

Por Stephens, J C, Reich, D E, Goldstein, D B, Shin, H D, Smith, M W, Carrington, M, Winkler, C, Huttley, G A, Allikmets, R, Schriml, L, Gerrard, B, Malasky, M, Ramos, M D, Morlot, S, Tzetis, M, Oddoux, C, di Giovine, F S, Nasioulas, G, Chandler, D, Aseev, M, Hanson, M, Kalaydjieva, L, Glavac, D, Gasparini, P, Kanavakis, E, Claustres, M, Kambouris, M, Ostrer, H, Duff, G, Baranov, V, Sibul, H, Metspalu, A, Goldman, D, Martin, N, Duffy, D, Schmidtke, J, Estivill, X, O'Brien, S J, Dean, M
Publicado em 1998