Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

Por Mayer, K, Goedbloed, M, van Zijl, K, Nellist, M, Rott, H
Publicado em 2004

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

Por Nellist, M, Brook-Carter, P T, Connor, J M, Kwiatkowski, D J, Johnson, P, Sampson, J R
Publicado em 1993

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

Por van Slegtenhorst, M., Verhoef, S., Tempelaars, A., Bakker, L., Wang, Q., Wessels, M., Bakker, R., Nellist, M., Lindhout, D., Halley, D., van den Ouweland, A.
Publicado em 1999

Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex

Por Overwater, I. E., Verhaar, B. J. H., Lingsma, H. F., Bindels-de Heus, G. C. B., van den Ouweland, A. M. W., Nellist, M., ten Hoopen, L. W., Elgersma, Y., Moll, H. A., de Wit, M. C. Y.
Publicado no J Neurol (2016)

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Por Vrtel, R, Verhoef, S, Bouman, K, Maheshwar, M M, Nellist, M, van Essen, A J, Bakker, P L, Hermans, C J, Bink-Boelkens, M T, van Elburg, R M, Hoff, M, Lindhout, D, Sampson, J, Halley, D J, van den Ouweland, A M
Publicado em 1996