False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin?
Cheillan, D., Vercherat, M., Chevalier‐Porst, F., Charcosset, M., Rolland, M. O., Dorche, C.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF
Schneider, M, Hirt, C, Casaulta, C, Barben, J, Spinas, R, Bühlmann, U, Spalinger, J, Schwizer, B, Chevalier-Porst, F, Gallati, S
Published in Clinical genetics (01.07.2007)
Published in Clinical genetics (01.07.2007)
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Journal Article
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a
BRUNI, N., RAJAS, F., MONTANO, S., CHEVALIER-PORST, F., MAIRE, I., MITHIEUX, G.
Published in Annals of human genetics (01.03.1999)
Published in Annals of human genetics (01.03.1999)
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Conference Proceeding
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, M-P, Férec, C, Lalau, G, Georges, M Des, 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, M A, Faivre, L, Goossens, M, Roussey, M
Published in Journal of medical genetics (01.11.2009)
Published in Journal of medical genetics (01.11.2009)
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Journal Article
Mutation analysis in 600 French cystic fibrosis patients
Chevalier-Porst, F, Bonardot, A M, Gilly, R, Chazalette, J P, Mathieu, M, Bozon, D
Published in Journal of medical genetics (01.07.1994)
Published in Journal of medical genetics (01.07.1994)
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Journal Article
A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island
Chevalier-Porst, F, Chomel, J C, Hillaire, D, Kitzis, A, Kaplan, J C, Goutaland, R, Mathieu, M, Bozon, D
Published in Human molecular genetics (01.11.1992)
Published in Human molecular genetics (01.11.1992)
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Journal Article
Short Report: Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF
Schneider, M, Hirt, C, Casaulta, C, Barben, J, Spinas, R, Bühlmann, U, Spalinger, J, Schwizer, B, Chevalier-Porst, F, Gallati, S
Published in Clinical genetics (01.07.2007)
Published in Clinical genetics (01.07.2007)
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Journal Article
False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT) : Should we adjust IRT cut-off to ethnic oriein?
CHEILLAN, D, VERCHERAT, M, CHEVALIER-PORST, F, CHARCOSSET, M, ROLLAND, M. O, DORCHE, C
Published in Journal of inherited metabolic disease (2005)
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Published in Journal of inherited metabolic disease (2005)
Journal Article
Mutation analysis in 24 French patients with glycogen storage disease type 1a
Chevalier-Porst, F, Bozon, D, Bonardot, A M, Bruni, N, Mithieux, G, Mathieu, M, Maire, I
Published in Journal of medical genetics (01.05.1996)
Published in Journal of medical genetics (01.05.1996)
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Journal Article
Mutation analysis in 11 French patients with Fabry disease
Guffon, Nathalie, Froissart, Roseline, Chevalier-Porst, Françoise, Maire, Irène
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene
Chevalier-Porst, Françoise, Bonardot, Anne-Marie, Chazalette, Jean-Pierre, Mathieu, Monique, Bozon, Dominique
Published in Human mutation (1998)
Published in Human mutation (1998)
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A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype
HERGERSBERG, M, BALAKRISHNAN, J, THONNEY, F, MOSER, H, MALIK, N, BETTECKEN, T, CHEVALIER-PORST, F, BRÄGGER, C, BURGER, R, EINSCHENK, I, LIECHTI-GALLATI, S, MORRIS, M, SCHORDERET, D
Published in Human genetics (01.08.1997)
Published in Human genetics (01.08.1997)
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