5 results for author:"Prieur M." in Literature citations
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| NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. Borck G., Redon R., Sanlaville D., Rio M., Prieur M., Lyonnet S., Vekemans M., Carter N.P., Munnich A., Colleaux L. et al. J. Med. Genet. 41:e128-e128(2004) · Mapped (5) |
| Spectrum of NSD1 mutations in Sotos and Weaver syndromes. Rio M., Clech L., Amiel J., Faivre L., Lyonnet S., Le Merrer M., Odent S., Lacombe D., Edery P., Brauner R. et al. J. Med. Genet. 40:436-440(2003) · UniProtKB (1) · Mapped (9) |
| Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. Faivre L., Cormier-Daire V., Lapierre J.M., Colleaux L., Jacquemont S., Genevieve D., Saunier P., Munnich A., Turleau C., Romana S. et al. J. Med. Genet. 39:594-596(2002) · Mapped (1) |
| Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Amiel J., Espinosa-Parrilla Y., Steffann J., Gosset P., Pelet A., Prieur M., Boute O., Choiset A., Lacombe D., Philip N. et al. Am. J. Hum. Genet. 69:1370-1377(2001) · Mapped (7) |
| New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. Touraine P., Beau I., Gougeon A., Meduri G., Desroches A., Pichard C., Detoeuf M., Paniel B., Prieur M., Zorn J.-R. et al. Mol. Endocrinol. 13:1844-1854(1999) · UniProtKB (1) |