Xavier Estivill

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CFTR and asthma in the French EGEA study

X. Estivill, J. Sunyer, M. Baudis, 2001, European Journal of Human Genetics.

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.

X. Estivill, G. Antiñolo, T. Casals, 1996, Journal of medical genetics.

ADRB2 Gly16Arg polymorphism, asthma control and lung function decline

X. Estivill, M. Kogevinas, D. Jarvis, 2011, European Respiratory Journal.

Severe Homozygous Protein C Deficiency: Identification of a Splice Site Missense Mutation (184, Q → H) in Exon 7 of the Protein C Gene

X. Estivill, J. Fontcuberta, J. Soria, 1994, Thrombosis and Haemostasis.

Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene.

X. Estivill, J. Weissenbach, S. Puig, 1995, American journal of human genetics.

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis‐like phenotypes

S. Ossowski, D. Trujillano, T. Casals, 2014, Clinical genetics.

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

J. Ramos, Roser Torra, Xavier Estivill, 1996, Journal of medical genetics.

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.

X. Estivill, T. Casals, M. Chillón, 1993, Human molecular genetics.

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.

X. Estivill, T. Casals, Ó. Asensio, 1993, Human molecular genetics.

Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles

X. Estivill, T. Casals, V. Nunes, 1991, The Lancet.