C. Vázquez

发表

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients

X. Estivill, T. Casals, J. Lavinha, 1997, Human mutation.

Persistence of Essential Fatty Acid Deficiency in Cystic Fibrosis Despite Nutritional Therapy

J. Rodríguez-soriano, F. Andrade, L. Aldámiz-Echevarría, 2009, Pediatric Research.

The impact of chest computed tomography and chest radiography on clinical management of cystic fibrosis lung disease.

C. Hansen, H. Tiddens, V. Raia, 2020, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Antibiotic resistance and population structure of cystic fibrosis Pseudomonas aeruginosa isolates from a Spanish multi-centre study.

A. Oliver, C. Olveira, Ó. Asensio, 2017, International journal of antimicrobial agents.

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

X. Estivill, C. Lázaro, T. Casals, 1992, American journal of human genetics.

IgG antibodies to Aspergillus fumigatus in cystic fibrosis.

C. Vázquez, A. Sojo, J. Vitoria, 1989, Archives of disease in childhood.

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 .

panish Consensus on the Prevention and Treatment of Pseudomonas eruginosa Bronchial Infections in Cystic Fibrosis Patients

A. Oliver, C. Olveira, J. Poveda, 2018 .

Spanish consensus on the prevention and treatment of Pseudomonas aeruginosa bronchial infections in cystic fibrosis patients

A. Oliver, C. Olveira, Ó. Asensio, 2015 .

Spanish consensus on the prevention and treatment of Pseudomonas aeruginosa bronchial infections in cystic fibrosis patients.

A. Oliver, C. Olveira, Ó. Asensio, 2015, Archivos de bronconeumologia.

Early treatment of Pseudomonas aeruginosa colonization in cystic fibrosis

C. Vázquez, A. Sojo, L. Gaztelurrutia, 1993, Acta paediatrica.

Chloride deficiency as a presentation or complication of cystic fibrosis

G. Ariceta, J. Rodríguez-Soriano, A. Villate, 1994, European Journal of Pediatrics.

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.

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

X. Estivill, T. Casals, L. Pena, 1995, Human Genetics.

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion

X. Estivill, C. Badenas, M. Milá, 1996, Human Genetics.

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

X. Estivill, S. Ossowski, D. Trujillano, 2014, Clinical genetics.

Cystic Fibrosis intheBasqueCountry: HighFrequencyof Mutation AF508inPatients ofBasqueOrigin

T. Casals, C. Vázquez, F. Giménez, 1992 .

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

D. Trujillano, T. Casals, C. Oliva, 2014, Clinical genetics.