SOX10 mutations in patients with Waardenburg-Hirschsprung disease
Pingault, Véronique, Hermans-Borgmeyer, Irm, Puliti, Aldamaria, Goerich, Derk E, Read, Andrew P, Wegner, Michael, Herbarth, Beate, Goossens, Michel, Kuhlbrodt, Kirsten, Matthijs, Gert, Ceccherini, Isabella, Smith, Jill Clayton, Bondurand, Nadège, Amiel, Jeanne, Romeo, Giovanni, Lyonnet, Stanislas, Préhu, Marie-Odette, Legius, Eric
Published in Nature genetics (01.02.1998)
Published in Nature genetics (01.02.1998)
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Human bisphosphoglycerate mutase. Expression in Escherichia coli and use of site-directed mutagenesis in the evaluation of the role of the carboxyl-terminal region in the enzymatic mechanism
GAREL, M.-C, JOULIN, V, LE BOULCH, P, CALVIN, M.-C, PREHU, M.-O, AROUS, N, LONGIN, R, ROSA, R, ROSA, J, COHEN-SOLAL, M
Published in The Journal of biological chemistry (15.11.1989)
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Published in The Journal of biological chemistry (15.11.1989)
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A high-resolution genetic map of mouse chromosome 15 encompassing the Dominant megacolon (Dom) locus
Puliti, A, Prehu, M O, Simon-Chazottes, D, Ferkdadji, L, Peuchmaur, M, Goossens, M, Guénet, J L
Published in Mammalian genome (01.11.1995)
Published in Mammalian genome (01.11.1995)
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The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes
Rosa, R, Prehu, M O, Beuzard, Y, Rosa, J
Published in The Journal of clinical investigation (01.11.1978)
Published in The Journal of clinical investigation (01.11.1978)
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Possibility of prenatal diagnosis of hereditary triose phosphate isomerase deficiency
Rosa, R, Prehu, M O, Calvin, M C, Daffos, F, Forestier, F
Published in Prenatal diagnosis (01.05.1986)
Published in Prenatal diagnosis (01.05.1986)
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Human bisphosphoglycerate mutase expressed in E coli: purification, characterization and structure studies
Calvin, M.C., Blouquit, Y., Garel, M.C., Prehu, M.O., Cohen-Solal, M., Rosa, J., Rosa, R.
Published in Biochimie (01.05.1990)
Published in Biochimie (01.05.1990)
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Amino acid residues involved in the catalytic site of human erythrocyte bisphosphoglycerate mutase : functional consequences of substitutions of His10, His187 and Arg89
GAREL, M.-C, LEMARCHANDEL, V, CALVIN, M.-C, AROUS, N, CRAESCU, C. T, PREHU, M.-O, ROSA, J, ROSA, R
Published in European journal of biochemistry (01.04.1993)
Published in European journal of biochemistry (01.04.1993)
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Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex
Rugg, E L, Rachet-Préhu, M O, Rochat, A, Barrandon, Y, Goossens, M, Lane, E B, Hovnanian, A
Published in European journal of human genetics : EJHG (01.04.1999)
Published in European journal of human genetics : EJHG (01.04.1999)
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Evidence for the presence of a hybrid of phosphoglyceromutase/bisphosphoglyceromutase in the red cells: Partial characterization of the hybrid
Rosa, Raymonde, Calvin, Marie-Claude, Préhu, Marie-Odette, Levy-Strauss, Mathieu, Rosa, Jean
Published in Biochemical and biophysical research communications (16.05.1984)
Published in Biochemical and biophysical research communications (16.05.1984)
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Biochemical and immunological arguments for homology between red cell and liver phosphoglyceromutase isozymes
PREHU, M. O, CALVIN, M. C, PREHU, C, ROSA, R
Published in Biochimica et biophysica acta (28.06.1984)
Published in Biochimica et biophysica acta (28.06.1984)
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Natural and artificial mutants of the human 2,3-bisphosphoglycerate as a tool for the evaluation of structure-function relationships
Garel, M C, Lemarchandel, V, Prehu, M O, Calvin, M C, Arous, N, Rosa, R, Rosa, J, Cohen-Solal, M
Published in Biomedica biochimica acta (1990)
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Published in Biomedica biochimica acta (1990)
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Hereditary triose phosphate isomerase deficiency: seven new homozygous cases
Rosa, R, Prehu, M O, Calvin, M C, Badoual, J, Alix, D, Girod, R
Published in Human genetics (01.11.1985)
Published in Human genetics (01.11.1985)
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Partial characterization of the inactive mutant form of human red cell bisphosphoglyceromutase and comparison with an alkylated form
Rosa, Raymonde, Préhu, Marie-Odette, Albrecht-Ellmer, Krystina, Calvin, Marie Claude
Published in Biochimica et biophysica acta (12.01.1983)
Published in Biochimica et biophysica acta (12.01.1983)
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Diphosphoglyceromutase deficiency: new cases associated with erythrocytosis
Galacteros, F, Rosa, R, Prehu, M O, Najean, Y, Calvin, M C
Published in Nouvelle revue francaise d'hematologie (1984)
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Published in Nouvelle revue francaise d'hematologie (1984)
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