S. Balcells

Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study (2008)

Langdahl, B.L., Uitterlinden, A.G., Ralston, S.H., Trikalinos, T.A., Balcells, S., Brandi, M.L., ...

INTRODUCTION: The TGFB1 gene which encodes transforming growth factor beta 1, is a strong candidate for susceptibility to osteoporosis and several studies have reported associations between bone...

Differential stimulation of sea urchin early and late H2B histone gene expression by a gastrula nuclear extract after injection into Xenopus laevis oocytes.

Maxson, R, Ito, M, Balcells, S, Thayer, M, French, M, Lee, F, ...

Sea urchin early histone genes are active in preblastula embryos; late histone genes are maximally expressed during subsequent stages of embryogenesis. We used the Xenopus laevis oocyte to assay for...

Differential stimulation of sea urchin early and late H2B histone gene expression by a gastrula nuclear extract after injection into Xenopus laevis oocytes.

Maxson, R, Ito, M, Balcells, S, Thayer, M, French, M, Lee, F, ...

Sea urchin early histone genes are active in preblastula embryos; late histone genes are maximally expressed during subsequent stages of embryogenesis. We used the Xenopus laevis oocyte to assay for...

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

Bayés, M, Goldaracena, B, Martínez-Mir, A, Iragui-Madoz, M I, Solans, T, Chivelet, P, ...

Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous disease. To date, mutations in four members of the phototransduction cascade have been implicated in ARRP. Additionally,...

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Chabás, A, Cormand, B, Grinberg, D, Burguera, J M, Balcells, S, Merino, J L, ...

Three sisters suffering from an unusual form of Gaucher's disease are described. These patients had cardiovascular abnormalities consisting of calcification of the ascending aorta and of the aortic...

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

Paloma, E, Martinez-Mir, A, Garcia-Sandoval, B, Ayuso, C, Vilageliu, L, Gonzalez-Duarte, R, ...