RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making
Broenen, E., Ranchin, B., Besmond, C., Freychet, C., Fouilhoux, A., Perouse de Montclos, T., Ville, D., Bacchetta, J.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.09.2019)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.09.2019)
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Journal Article
The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis
Gabolde, M, Hubert, D, Guilloud-Bataille, M, Lenaerts, C, Feingold, J, Besmond, C
Published in Journal of medical genetics (01.05.2001)
Published in Journal of medical genetics (01.05.2001)
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Journal Article
Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes
Guilmeau, S, Niot, I, Laigneau, J P, Devaud, H, Petit, V, Brousse, N, Bouvier, R, Ferkdadji, L, Besmond, C, Aggerbeck, L P, Bado, A, Samson-Bouma, M E
Published in Histochemistry and cell biology (01.08.2007)
Published in Histochemistry and cell biology (01.08.2007)
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Journal Article
Polymorphisms of the Receptor of Advanced Glycation Endproducts (RAGE) and the development of nephropathy in type 1 diabetic patients
Prevost, G, Fajardy, I, Besmond, C, Balkau, B, Tichet, J, Fontaine, P, Danze, PM, Marre, M
Published in Diabetes & metabolism (01.02.2005)
Published in Diabetes & metabolism (01.02.2005)
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Journal Article
Potential of denaturing gradient gel electrophoresis for scanning of β‐thalassemia mutations in India
Gorakshakar, A.C., Pawar, A.R., Nadkarni, A.H., Lu, C.Y., Mohanty, D., Krishnamoorthy, R., Besmond, C., Colah, R.B.
Published in American journal of hematology (01.06.1999)
Published in American journal of hematology (01.06.1999)
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Journal Article
Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families
Desbois-Mouthon, C., Girodon, E., Ghanem, N., Caron, M., Pennerath, A., Conteville, P., Magre, J., Besmond, C., Goossens, M., Capeau, J., Amselem, S.
Published in Prenatal diagnosis (01.07.1997)
Published in Prenatal diagnosis (01.07.1997)
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Journal Article
A simple approach to the characterization of three common Indian beta-thalassemia mutations by artificially created restriction sites
Pawar, A R, Lu, C Y, Besmond, C, Gorakshakar, A C, Colah, R B, Mohanty, D, Krishnamoorthy, R
Published in Hemoglobin (01.01.2000)
Published in Hemoglobin (01.01.2000)
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Journal Article
Molecular cloning of cDNA for rat L-type pyruvate kinase and aldolase B
Simon, M P, Besmond, C, Cottreau, D, Weber, A, Chaumet-Riffaud, P, Dreyfus, J C, Trépat, J S, Marie, J, Kahn, A
Published in The Journal of biological chemistry (10.12.1983)
Published in The Journal of biological chemistry (10.12.1983)
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Journal Article
Dietary and hormonal regulation of aldolase B gene expression
MUNNICH, A, BESMOND, C, DARQUY, S, REACH, G, VAULONT, S, DREYFUS, J.-C, KAHN, A
Published in The Journal of clinical investigation (01.03.1985)
Published in The Journal of clinical investigation (01.03.1985)
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Journal Article
Dietary control of aldolase B and L-type pyruvate kinase mRNAs in rat. Study of translational activity and hybridization with cloned cDNA probes
Weber, A, Marie, J, Cottreau, D, Simon, M P, Besmond, C, Dreyfus, J C, Kahn, A
Published in The Journal of biological chemistry (10.02.1984)
Published in The Journal of biological chemistry (10.02.1984)
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Journal Article
Apports de la génétique au diagnostic des troubles du spectre autistique
Demily, C., Assouline, M., Boddaert, N., Barcia, G., Besmond, C., Poisson, A., Sanlaville, D., Munnich, A.
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01.10.2016)
Published in Neuropsychiatrie de l'enfance et de l'adolescence (01.10.2016)
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Journal Article
Human RAGE GLY82SER dimorphism and HLA class II DRB1-DQA1-DQB1 haplotypes in type 1 diabetes
Prevost, G., Fajardy, I., Fontaine, P., Danze, P. M., Besmond, C.
Published in European journal of immunogenetics (01.10.1999)
Published in European journal of immunogenetics (01.10.1999)
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Journal Article
The structural gene for aldolase B (ALDB) maps to 9q13→32
HENRY, I., GALLANO, P., BESMOND, C., WEIL, D., MATTEI, M. G., TURLEAU, C., BOUÉ, J., KAHN, A., JUNIEN, C.
Published in Annals of human genetics (01.07.1985)
Published in Annals of human genetics (01.07.1985)
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Journal Article
Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection
Danan, Claude, Sternberg, Damien, Van Steirteghem, André, Cazeneuve, Cécile, Duquesnoy, Philippe, Besmond, Claude, Goossens, Michel, Lissens, Willy, Amselem, Serge
Published in American journal of human genetics (01.08.1999)
Published in American journal of human genetics (01.08.1999)
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Journal Article
Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly
Clément-Ziza, Mathieu, Khen, Naziha, Gonzales, Jacques, Crétolle-Vastel, Célia, Picard, Jean-Yves, Tullio-Pelet, Anna, Besmond, Claude, Munnich, Arnold, Lyonnet, Stanislas, Nihoul-Fékété, Claire
Published in American journal of medical genetics. Part A (15.08.2005)
Published in American journal of medical genetics. Part A (15.08.2005)
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Journal Article
Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes
Guilmeau, Sandra, Niot, I., Laigneau, J., Devaud, H., Petit, V., Brousse, N., Bouvier, R., Ferkdadji, L., Besmond, C., Aggerbeck, L., Bado, A., Samson-Bouma, M.
Published in Histochemistry and cell biology (31.07.2007)
Published in Histochemistry and cell biology (31.07.2007)
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Journal Article
DNA analysis in patients with hereditary fructose intolerance
Grégori, C., Besmond, C., Odievre, M., Kahn, A., Dreyfus, J. C.
Published in Annals of human genetics (01.10.1984)
Published in Annals of human genetics (01.10.1984)
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Journal Article