Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.

Por Tarleton, J, Wong, S, Heitz, D, Schwartz, C
Publicado em 1992

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

Por Rousseau, F, Heitz, D, Oberlé, I, Mandel, J L
Publicado em 1991

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

Por Heitz, D, Devys, D, Imbert, G, Kretz, C, Mandel, J L
Publicado em 1992

Molecular cloning and analysis of the fragile X region in man.

Por Dietrich, A, Kioschis, P, Monaco, A P, Gross, B, Korn, B, Williams, S V, Sheer, D, Heitz, D, Oberle, I, Toniolo, D
Publicado em 1991

Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA)

Por Rousseau, F., Vincent, A., Rivella, S., Heitz, D., Triboli, C., Maestrini, E., Warren, S. T., Suthers, G. K., Goodfellow, P., Mandel, J. L., Toniolo, D., Oberle, I.
Publicado em 1991

Accuracy of a nomogram for prediction of lymph-node metastasis detected with conventional histopathology and ultrastaging in endometrial cancer

Por Koskas, M, Chereau, E, Ballester, M, Dubernard, G, Lécuru, F, Heitz, D, Mathevet, P, Marret, H, Querleu, D, Golfier, F, Leblanc, E, Luton, D, Rouzier, R, Daraï, E
Publicado em 2013

Isolation of a human DNA sequence which spans the fragile X

Por Kremer, E. J., Yu, S., Pritchard, M., Nagaraja, R., Heitz, D., Lynch, M., Baker, E., Hyland, V. J., Little, R. D., Wada, M., Toniolo, D., Vincent, A., Rousseau, F., Schlessinger, D., Sutherland, G. R., Richards, R. I.
Publicado em 1991

A Multicenter Study on Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB12.3: The First 2,253 Cases

Por Rousseau, F., Heitz, D., Tarleton, J., MacPherson, J., Malmgren, H., Dahl, N., Barnicoat, A., Mathew, C., Mornet, E., Tejada, I., Maddalena, A., Spiegel, R., Schinzel, A., Marcos, J. A. G., Schorderet, D. F., Schaap, T., Maccioni, L., Russo, S., Jacobs, P. A., Schwartz, C., Mandel, J. L.
Publicado em 1994