A. Gaona

发表

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

X. Estivill, C. Lázaro, E. Ars, 2000, Human molecular genetics.

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Xavier Estivill, Peter Ainsworth, X. Estivill, 1996, Human Genetics.

Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation

X. Estivill, C. Lázaro, H. Kruyer, 1995, Human Genetics.

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.

X. Estivill, C. Lázaro, A. Gaona, 1993, Human molecular genetics.

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

X. Estivill, C. Lázaro, H. Kruyer, 1995, American journal of human genetics.

Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

X. Estivill, C. Lázaro, A. Gaona, 1994, The New England journal of medicine.

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

X. Estivill, R. Weiss, C. Lázaro, 1993, Human Genetics.

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene

X. Estivill, C. Lázaro, A. Gaona, 1994, Human Genetics.

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

X. Estivill, C. Lázaro, E. Ars, 1999, Prenatal diagnosis.

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

X. Estivill, C. Lázaro, E. Ars, 1998, American journal of human genetics.

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

X. Estivill, C. Lázaro, A. Gaona, 1995, Prenatal diagnosis.

Analysis of 14 cystic fibrosis mutations in five South European populations

X. Estivill, P. Pignatti, P. Gasparini, 1991, Human Genetics.

Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations

X. Estivill, G. Cutting, A. Gaona, 1991, Prenatal diagnosis.

The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

X. Estivill, P. Gasparini, B. Dallapiccola, 1991, Genomics.

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.

X. Estivill, S. Puig, C. Lázaro, 1997, American journal of human genetics.

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

X. Estivill, C. Lázaro, A. Gaona, 1994, Human genetics.

Caracterització molecular de la FQ a la població espanyola Cystic fibrosis in the basque country: high frequency of mutation F508 in patients of basque origin

X. Estivill, C. Lázaro, A. Gaona, 2005 .

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

X. Estivill, A. Gaona, T. Casals, 1993, Human Genetics.

Confirmation ofa Double-Hit ModelfortheNF1GeneinBenign Neurofibromas

X. Estivill, E. Ars, A. Gaona, 1997 .

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

X. Estivill, G. Antiñolo, A. Gaona, 1992 .