Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.

Por Tayebi, N., Cushner, S., Sidransky, E.
Publicado em 1996

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease

Por STONE, D., TAYEBI, N., COBLE, C., GINNS, E., SIDRANSKY, E.
Publicado em 2000

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity

Por Gupta, N, Oppenheim, IM, Kauvar, EF, Tayebi, N, Sidransky, E
Publicado em 2010

Glucocerebrosidase Mutation H255Q Appears to be Exclusively in cis With D409H: Structural Implications

Por Vithayathil, J, Gibney, G, Baxevanis, AD, Stubblefield, BK, Sidransky, E, Tayebi, N
Publicado em 2009

Type 2 Gaucher disease: the collodion baby phenotype revisited

Por Stone, D, Carey, W, Christodoulou, J, Sillence, D, Nelson, P, Callahan, M, Tayebi, N, Sidransky, E
Publicado em 2000

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Por Koprivica, V, Stone, D L, Park, J K, Callahan, M, Frisch, A, Cohen, I J, Tayebi, N, Sidransky, E
Publicado em 2000

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Por Sidransky, E, Tayebi, N, Stubblefield, B K, Eliason, W, Klineburgess, A, Pizzolato, G P, Cox, J N, Porta, J, Bottani, A, DeLozier-Blanchet, C D
Publicado em 1996

A monozygotic twin pair with highly discordant Gaucher phenotypes

Por Biegstraaten, M., van Schaik, I.N., Aerts, J.M.F.G., Langeveld, M., Mannens, M.M.A.M., Bour, L.J., Sidransky, E., Tayebi, N., Fitzgibbon, E., Hollak, C.E.M.
Publicado em 2010