Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions.

Por Pujana, M A, Volpini, V, Estivill, X
Publicado em 1998

Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2).

Por Pujana, M A, Volpini, V, Estivill, X
Publicado em 1996

DMD carrier detection in a female with mosaic Turner's syndrome.

Por Baiget, M, Tizzano, E, Volpini, V, del Rio, E, Pérez-Vidal, T, Gallano, P
Publicado em 1991

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.

Por Casals, T, Nunes, V, Lázaro, C, Giménez, F J, Girbau, E, Volpini, V, Estivill, X
Publicado em 1991

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

Por Quintáns, B., Pardo, J., Campos, B., Barros, F., Volpini, V., Carracedo, Á., Sobrido, M.J.
Publicado em 2011

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Por Ars, E, Kruyer, H, Gaona, A, Casquero, P, Rosell, J, Volpini, V, Serra, E, Lázaro, C, Estivill, X
Publicado em 1998

Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.

Por Pujana, M A, Volpini, V, Gratacós, M, Corral, J, Banchs, I, Sánchez, A, Genís, D, Cervera, C, Estivill, X
Publicado em 1998

High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain

Por Sanchez, B., Robledo, M., Biarnes, J., Saez, M., Volpini, V., Benitez, J., Navarro, E., Ruiz, A., Antinolo, G., Borrego, S.
Publicado em 1999

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.

Por Barrientos, A., Casademont, J., Saiz, A., Cardellach, F., Volpini, V., Solans, A., Tolosa, E., Urbano-Marquez, A., Estivill, X., Nunes, V.
Publicado em 1996

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Por Calonge, M J, Volpini, V, Bisceglia, L, Rousaud, F, de Sanctis, L, Beccia, E, Zelante, L, Testar, X, Zorzano, A, Estivill, X
Publicado em 1995

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

Por Barrientos, A, Volpini, V, Casademont, J, Genís, D, Manzanares, J M, Ferrer, I, Corral, J, Cardellach, F, Urbano-Márquez, A, Estivill, X, Nunes, V
Publicado em 1996

Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism

Por Perandones, C., Giugni, J C, Calvo, D S, Raina, G B, De Jorge Lopez, L, Volpini, V, Zabetian, CP, Mata, I F, Caputo, M, Corach, D, Radrizzani, M, Micheli, F E
Publicado em 2013

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

Por Gaspar, C., Lopes-Cendes, I., Hayes, S., Goto, J., Arvidsson, K., Dias, A., Silveira, I., Maciel, P., Coutinho, P., Lima, M., Zhou, Y.-X., Soong, B.-W., Watanabe, M., Giunti, P., Stevanin, G., Riess, O., Sasaki, H., Hsieh, M., Nicholson, G. A., Brunt, E., Higgins, J. J., Lauritzen, M., Tranebjaerg, L., Volpini, V., Wood, N., Ranum, L., Tsuji, S., Brice, A., Sequeiros, J., Rouleau, G. A.
Publicado em 2001