A rapid method to identify cosmids containing rare restriction sites.

Por Estivill, X, Williamson, R
Publicado em 1987

Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene

Por Rabionet, R., Estivill, X.
Publicado em 1999

Isolation and mapping of a polymorphic DNA sequence pXH3 on chromosome X [DXS235]

Por Estivill, X, Scambler, P J
Publicado em 1988

A polymorphic DNA probe from chromosome 7 (7q22)

Por Casals, T., Nunes, V., Estivill, X.
Publicado em 1990

SSCP-polymorphism in intron 12 of the CFTR gene recognized by Bcll

Por Chillón, M., Nunes, V., Estivill, X.
Publicado em 1991

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

MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene

Por Bosch, A., Kruyer, H., Nunes, V., Estivill, X.
Publicado em 1991

Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

Por Torra, R, Alós, L, Ramos, J, Estivill, X
Publicado em 1996

A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

Por Chillón, M, Casals, T, Giménez, J, Nunes, V, Estivill, X
Publicado em 1994

PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation

Por Nunes, V., Chillón, M., Lench, N., Ramsay, M., Estivill, X.
Publicado em 1990

Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer

Por Malats, N, Casals, T, Porta, M, Guarner, L, Estivill, X, Real, F
Publicado em 2001

Genes as causes: scientific fact or simplistic thinking?

Por REAL, F., BERTRANPETIT, J., ESTIVILL, X., PORTA, M., ALVAREZ-DARDET, C.
Publicado em 2000

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.

Por Milà, M, Castellví-Bel, S, Sánchez, A, Lázaro, C, Villa, M, Estivill, X
Publicado em 1996

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

Por Casals, T, Vázquez, C, Lázaro, C, Girbau, E, Giménez, F J, Estivill, X
Publicado em 1992

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

Por Lázaro, C, Gaona, A, Lynch, M, Kruyer, H, Ravella, A, Estivill, X
Publicado em 1995

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

Por Kruyer, H., Milà, M., Glover, G., Carbonell, P., Ballesta, F., Estivill, X.
Publicado em 1994

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Por Morral, N., Llevadot, R., Casals, T., Gasparini, P., Macek, M., Dörk, T., Estivill, X.
Publicado em 1994

ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM.19), closely linked to cystic fibrosis

Por Nunes, V., Ramsay, M., Casals, T., Chillón, M., Lench, N., Schwartz, M., Estivill, X.
Publicado em 1990

Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.

Por Sánchez, A, Castellví-Bel, S, Milà, M, Genis, D, Calopa, M, Jiménez, D, Estivill, X
Publicado em 1996