Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria
Rüfenacht, U.B., Gouya, L., Schneider-Yin, X., Puy, H., Schäfer, B.W., Aquaron, R., Nordmann, Y., Minder, E.I., Deybach, J.C.
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Journal Article
McArdle disease (gycogenosis type V): analysis of clinical, biological and genetic features of five French patients
Delmont, E, Sacconi, S, Berge-Lefranc, J-L, Aquaron, R, Butori, C, Desnuelle, C
Published in Revue neurologique (01.11.2008)
Published in Revue neurologique (01.11.2008)
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Journal Article
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism
Durham-Pierre, D, Gardner, J. M, Nakatsu, Y, King, R. A, Francke, U, Ching, A, Aquaron, R, del Marmol, V, Brilliant, M. H
Published in Nature genetics (01.06.1994)
Published in Nature genetics (01.06.1994)
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Journal Article
Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients
Beltrán-Valero de Bernabé, D., Granadino, B., Chiarelli, I., Porfirio, B., Mayatepek, E., Aquaron, R., Moore, M.M., Festen, J.J.M., Sanmartí, R., Peñalva, M.A., Rodríguez de Córdoba, S.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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Journal Article
Hemolysis: a fatal complication of alkaptonuria in a severe renal failure patient
Bataille, Stanislas, Moal, Valérie, Aquaron, Robert R, Grünfeld, Jean-Pierre, Daniel, Laurent
Published in Clinical nephrology (01.05.2014)
Published in Clinical nephrology (01.05.2014)
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Journal Article
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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Journal Article
Analysis of Alkaptonuria (AKU) Mutations and Polymorphisms Reveals that the CCC Sequence Motif Is a Mutational Hot Spot in the Homogentisate 1,2 Dioxygenase Gene ( HGO )
Beltrán-Valero de Bernabé, D., Jimenez, F.J., Aquaron, R., Rodríguez de Córdoba, S.
Published in American journal of human genetics (01.05.1999)
Published in American journal of human genetics (01.05.1999)
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Journal Article
Simple, reliable and fast spectrofluorometric method for determination of plasma Verteporfin (Visudyne) levels during photodynamic therapy for choroidal neovascularization
Aquaron, R, Forzano, O, Murati, J L, Fayet, G, Aquaron, C, Ridings, B
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.12.2002)
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Published in Cellular and molecular biology (Noisy-le-Grand, France) (01.12.2002)
Journal Article
New nonsense mutation (p.E250X) in the tyrosinase gene of a patient with oculocutaneous albinism type 1A
Aquaron, R, Hesse, S, Badens, C, Bonerandi, J-J
Published in Annales de dermatologie et de vénéréologie (01.01.2009)
Published in Annales de dermatologie et de vénéréologie (01.01.2009)
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Journal Article
Maladie de Wilson : étude clinique et biologie moléculaire
Dhidah, K., El Filali, F., Naamane, A., Hadj Khalifa, H., Aquaron, R.
Published in Immuno-analyse & biologie spécialisée (01.12.2007)
Published in Immuno-analyse & biologie spécialisée (01.12.2007)
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Journal Article
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)
Journal Article
Atypical Porphyria cutanea tarda in a Patient with Chronic Myelogenous Leukemia
Granel, B., Serratrice, J., Bouabdallah, R., Pache, X., Weiller-Merli, C., Swiader, L., Aquaron, R., Disdier, P., Nordmann, Y., Weiller, P.J.
Published in Dermatology (Basel) (01.01.2001)
Published in Dermatology (Basel) (01.01.2001)
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Journal Article
Endemic goiter in Morocco (Skoura-Toundoute areas in the high atlas)
Aquaron, R, Zarrouck, K, el Jarari, M, Ababou, R, Talibi, A, Ardissone, J P
Published in Journal of endocrinological investigation (01.01.1993)
Published in Journal of endocrinological investigation (01.01.1993)
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Journal Article
Epidemiology and prophylaxis of endemic goitre in the Bwa village of Sirao (Mali)
Roux, F, Bellis, G, Rhaly, A A, Monier, C, Bisset, J P, Aquaron, R, Chaventré, A
Published in Collegium antropologicum (01.06.1998)
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Published in Collegium antropologicum (01.06.1998)
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