Teresa Casals
Teresa Casals
Human Molecular Genetics Group. IDIBELL
Verified email at idibell.cat
Title
Cited by
Cited by
Year
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
10031995
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
6782008
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
4081994
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
2602009
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
2562004
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
2461999
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
2322011
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
2142003
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
1512000
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
1442000
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
1251995
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
1182005
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
1181995
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
1061997
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
932006
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‐Suńer, M Calvo, J Rosell, J Giménez, MD Ramos, ...
Annals of human genetics 71 (2), 194-201, 2007
862007
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