16 results for author:"Kamoun P." in Literature citations
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| The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia. Robert K., Santiard-Baron D., Chasse J.F., Paly E., Aupetit J., Kamoun P., London J., Janel N. J. Neurochem. 89:33-43(2004) · Mapped (26) |
| Altered gene expression in liver from a murine model of hyperhomocysteinemia. Robert K., Chasse J.F., Santiard-Baron D., Vayssettes C., Chabli A., Aupetit J., Maeda N., Kamoun P., London J., Janel N. J. Biol. Chem. 278:31504-31511(2003) · Mapped (4) |
| Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome. Chadefaux-Vekemans B., Coude M., Muller F., Oury J.F., Chabli A., Jais J., Kamoun P. Pediatr. Res. 51:766-767(2002) · Mapped (6) |
| Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. Prip-Buus C., Thuillier L., Abadi N., Prasad C., Dilling L., Klasing J., Demaugre F., Greenberg C.R., Haworth J.C., Droin V. et al. Mol. Genet. Metab. 73:46-54(2001) · UniProtKB (1) |
| Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Baumgartner M.R., Hu C.A., Almashanu S., Steel G., Obie C., Aral B., Rabier D., Kamoun P., Saudubray J.-M., Valle D. Hum. Mol. Genet. 9:2853-2858(2000) · UniProtKB (1) |
| Cystathionine beta-synthase mutations in homocystinuria. Kraus J.P., Janosik M., Kozich V., Mandell R., Shih V.E., Sperandeo M.P., Sebastio G., de Franchis R., Andria G., Kluijtmans L.A.J. et al. Hum. Mutat. 13:362-375(1999) · UniProtKB (1) |
| The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations. Liu G., Aral B., Zabot M.-T., Kamoun P., Ceballos-Picot I. Hum. Mutat. Suppl. 1:S88-S90(1998) · UniProtKB (1) |
| Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. Aral B., Benelli C., Ait-Ghezala G., Amessou M., Fouque F., Maunoury C., Creau N., Kamoun P., Marsac C. Am. J. Hum. Genet. 61:1318-1326(1997) · UniProtKB (1) · Mapped (1) |
| Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing. Chasse J.-F., Paul V., Escanez R., Kamoun P., London J. Mamm. Genome 8:917-921(1997) · UniProtKB (1) |
| Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients. Aral B., Coude M., London J., Aupetit J., Chasse J.-F., Zabot M.-T., Chadefaux-Vekemans B., Kamoun P. Hum. Mutat. 9:81-82(1997) · UniProtKB (1) |
| Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis. Aral B., Schlenzig J.S., Liu G., Kamoun P. C. R. Acad. Sci. III, Sci. Vie 319:171-178(1996) · UniProtKB (1) · Mapped (2) |
| Prenatal diagnosis of ornithine transcarbamylase deficiency: results in Spfash mice. Monastiri K., Rabier D., Kamoun P. Prenat. Diagn. 13:441-447(1993) · Mapped (3) |
| aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. Montagutelli X., Lalouette A., Coude M., Kamoun P., Forest M., Guenet J.L. Genomics 19:9-11(1994) · Mapped (5) |
| Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs. Chasse J.-F., Paly E., Paris D., Paul V., Sinet P.-M., Kamoun P., London J. Biochem. Biophys. Res. Commun. 211:826-832(1995) · UniProtKB (1) |
| Increase of ornithine transcarbamylase protein in sparse-fur mice with ornithine transcarbamylase deficiency. Briand P., Cathelineau L., Kamoun P., Gigot D., Penninckx M. FEBS Lett. 130:65-68(1981) · Mapped (3) |
| Correction of mouse ornithine transcarbamylase deficiency by gene transfer into the germ line. Cavard C., Grimber G., Dubois N., Chasse J.F., Bennoun M., Minet-Thuriaux M., Kamoun P., Briand P. Nucleic Acids Res. 16:2099-2110(1988) · Mapped (3) |