Hilde Van Esch
Centre for Human Genetics
Division of Clinical Genetics
University Hospital Leuven
Herestraat 49
Belgium
Name/email consistency: high
- Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Van Esch, H., Dom, R., Bex, D., Salden, I., Caeckebeke, J., Wibail, A., Borghgraef, M., Legius, E., Fryns, J.P., Matthijs, G. Eur. J. Hum. Genet. (2005)
- X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. Van Esch, H., Zanni, G., Holvoet, M., Borghgraef, M., Chelly, J., Fryns, J.P., Devriendt, K. Eur. J. Med. Genet (2005)
- Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Van Esch, H., Bauters, M., Ignatius, J., Jansen, M., Raynaud, M., Hollanders, K., Lugtenberg, D., Bienvenu, T., Jensen, L.R., Gecz, J., Moraine, C., Marynen, P., Fryns, J.P., Froyen, G. Am. J. Hum. Genet. (2005)
- A boy with an unusual association of ventral midline anomalies including a trunk-like umbilicus. Van Esch, H., Mariën, P., De Smedt, M., Fryns, J.P. Clin. Dysmorphol. (2004)