Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France
Nordmann, Y., Puy, H., Da Silva, V., Simonin, S., Robreau, A. M., Bonaiti, C., Phung, L. N., Deybach, J. C.
Published in Journal of internal medicine (01.09.1997)
Published in Journal of internal medicine (01.09.1997)
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Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria
Puy, H., Deybach, J.C., Lamoril, J., Robreau, A.M., Da Silva, V., Gouya, L., Grandchamp, B., Nordmann, Y.
Published in American journal of human genetics (01.06.1997)
Published in American journal of human genetics (01.06.1997)
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Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation
Whatley, Sharon D., Puy, Hervé, Morgan, Rhian R., Robreau, Anne-Marie, Roberts, Andrew G., Nordmann, Yves, Elder, George H., Deybach, Jean-Charles
Published in American journal of human genetics (01.10.1999)
Published in American journal of human genetics (01.10.1999)
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Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases
Karoui, M, Tresallet, C, Julie, C, Zimmermann, U, Staroz, F, Brams, A, Muti, C, Boulard, C, Robreau, A-M, Puy, H, Malafosse, R, Penna, C, Pruvot, F-R, Thiery, J P, Boileau, C, Rougier, P, Nordlinger, B, Radvanyi, F, Franc, B, Hofmann-Radvanyi, H
Published in British journal of cancer (22.03.2004)
Published in British journal of cancer (22.03.2004)
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Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda
Tchernitchko, D., Robréau, A.M., Lefebvre, T., Lamoril, J., Deybach, J.C., Puy, H.
Published in British journal of dermatology (1951) (01.02.2012)
Published in British journal of dermatology (1951) (01.02.2012)
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Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria
Gouya, Laurent, Martin-Schmitt, Caroline, Robreau, Anne-Marie, Austerlitz, Frédéric, Da Silva, Vasco, Brun, Patrick, Simonin, Sylvie, Lyoumi, Saïd, Grandchamp, Bernard, Beaumont, Carole, Puy, Hervé, Deybach, Jean-Charles
Published in American journal of human genetics (01.01.2006)
Published in American journal of human genetics (01.01.2006)
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Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis
Tchernitchko, D, Lamoril, J, Puy, H, Robreau, A.M, Bogard, C, Rosipal, R, Gouya, L, Deybach, J.C, Nordmann, Y
Published in Clinica chimica acta (1999)
Published in Clinica chimica acta (1999)
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The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
Lamoril, Jerôme, Da Silva, Vasco, Grandchamp, Bernard, Gouya, Laurent, Deybach, Jean-Charles, Puy, Herve, Bourgeois, Monique, Robreau, Anne-Marie
Published in Nature genetics (01.01.2002)
Published in Nature genetics (01.01.2002)
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Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups : mutations causing acute intermittent porphyria and specific intragenic polymorphisms
ROBREAU-FRAOLINI, A. M, PUY, H, AQUARON, C, BOGARD, C, TRAORE, M, NORDMANN, Y, AQUARON, R, DEYBACH, J. C
Published in Human genetics (01.08.2000)
Published in Human genetics (01.08.2000)
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New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria
Groß, U, Puy, H, Doss, M, Robreau, AM, Nordmann, Y, Doss, MO, Deybach, JC
Published in Molecular and cellular probes (01.12.1999)
Published in Molecular and cellular probes (01.12.1999)
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Loss of heterozygosity on 10q and mutational status of PTEN and BMPRIA in colorectal primary tumours and metastases
KAROUI, M, TRESALLET, C, MALAFOSSE, R, PENNA, C, PRUVOT, F-R, THIERY, J. P, BOILEAU, C, ROUGIER, P, NORDLINGER, B, RADVANYI, F, FRANC, B, HOFMANN-RADVANYI, H, JULIE, C, ZIMMERMANN, U, STAROZ, F, BRAMS, A, MUTI, C, BOULARD, C, ROBREAU, A-M, PUY, H
Published in British journal of cancer (22.03.2004)
Published in British journal of cancer (22.03.2004)
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Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias
GOUYA, Laurent, PUY, Hervé, ROBREAU, Anne-Marie, LYOUMI, Said, LAMORIL, Jérome, DA SILVA, Vasco, GRANDCHAMP, Bernard, DEYBACH, Jean-Charles
Published in Human genetics (01.02.2004)
Published in Human genetics (01.02.2004)
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Acute intermittent porphyria: rapid molecular diagnosis
Puy, H, Aquaron, R, Lamoril, J, Robréau, A M, Nordmann, Y, Deybach, J C
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.02.1997)
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Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.02.1997)
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