Teresa Casals
Teresa Casals
Human Molecular Genetics Group. IDIBELL
Correu electrònic verificat a idibell.cat
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Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
M Chillón, T Casals, B Mercier, L Bassas, W Lissens, S Silber, MC Romey, ...
New England Journal of Medicine 332 (22), 1475-1480, 1995
9941995
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
C Castellani, H Cuppens, M Macek Jr, JJ Cassiman, E Kerem, P Durie, ...
Journal of cystic fibrosis 7 (3), 179-196, 2008
6612008
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ...
Nature genetics 7 (2), 169-175, 1994
4071994
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations
E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, ...
European Journal of Human Genetics 17 (1), 51-65, 2009
2562009
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
JD Groman, TW Hefferon, T Casals, L Bassas, X Estivill, M Des Georges, ...
The American Journal of Human Genetics 74 (1), 176-179, 2004
2522004
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
J Zielenski, M Corey, R Rozmahel, D Markiewicz, I Aznarez, T Casals, ...
Nature genetics 22 (2), 128-129, 1999
2451999
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
A Hoischen, BWM van Bon, B Rodríguez-Santiago, C Gilissen, ...
Nature genetics 43 (8), 729-731, 2011
2302011
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
F Pagani, C Stuani, M Tzetis, E Kanavakis, A Efthymiadou, ...
Human molecular genetics 12 (10), 1111-1120, 2003
2112003
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
T Casals, L Bassas, S Egozcue, MD Ramos, J Giménez, A Segura, ...
Human Reproduction 15 (7), 1476-1483, 2000
1492000
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
T Dörk, M Macek Jr, F Mekus, B Tümmler, J Tzountzouris, T Casals, ...
Human genetics 106 (3), 259-268, 2000
1422000
Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer
N Malats, T Casals, M Porta, L Guarner, X Estivill, FX Real
Gut 48 (1), 70-74, 2001
1322001
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+ 1.6 kbA--> G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and …
M Chillon, T Dörk, T Casals, J Gimenez, N Fonknechten, K Will, D Ramos, ...
American journal of human genetics 56 (3), 623, 1995
1231995
Genotype-phenotype correlation for pulmonary function in cystic fibrosis
J De Gracia, F Mata, A Alvarez, T Casals, S Gatner, M Vendrell, ...
Thorax 60 (7), 558-563, 2005
1172005
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected
T Casals, L Bassas, J Ruiz-Romero, M Chillon, J Gimenez, MD Ramos, ...
Human genetics 95 (2), 205-211, 1995
1171995
CAGT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover
N Morral, V Nunes, T Casals, X Estivill
Genomics 10 (3), 692-698, 1991
1171991
Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers
N Morral, V Nunes, T Casals, M Chillón, J Giménez, J Bertranpetit, ...
Human molecular genetics 2 (7), 1015-1022, 1993
1101993
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes
T Casals, MD Ramos, J Giménez, S Larriba, V Nunes, X Estivill
Human genetics 101 (3), 365-370, 1997
1051997
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes …
C Férec, T Casals, N Chuzhanova, M Macek, T Bienvenu, A Holubova, ...
European journal of human genetics 14 (5), 567-576, 2006
942006
SSCP analysis: a blind sensitivity trial
A Jordanova, L Kalaydjieva, A Savov, M Claustres, M Schwarz, X Estivill, ...
Human mutation 10 (1), 65-70, 1997
931997
Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry
MJ Alonso, D Heine‐Suñer, M Calvo, J Rosell, J Giménez, MD Ramos, ...
Annals of human genetics 71 (2), 194-201, 2007
852007
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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