Casals T - Search Results

1

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.

Moya-Quiles MR, Mondéjar-López P, Pastor-Vivero MD, González-Gallego I, Juan-Fita MJ, Egea-Mellado JM, Carbonell P, Casals T, Fernández-Sánchez A, Sánchez-Solís M, Glover G. Moya-Quiles MR, et al. Among authors: casals t. Clin Genet. 2009 Dec;76(6):577-9. doi: 10.1111/j.1399-0004.2009.01252.x. Epub 2009 Oct 21. Clin Genet. 2009. PMID: 19845690 No abstract available.

2

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.

Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I. Kilinç MO, et al. Among authors: casals t. J Med Genet. 2000 Apr;37(4):307-9. doi: 10.1136/jmg.37.4.307. J Med Genet. 2000. PMID: 10819640 Free PMC article. No abstract available.

3

Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?

Casals T, De-Gracia J, Gallego M, Dorca J, Rodríguez-Sanchón B, Ramos MD, Giménez J, Cisteró-Bahima A, Olveira C, Estivill X. Casals T, et al. Clin Genet. 2004 Jun;65(6):490-5. doi: 10.1111/j.0009-9163.2004.00265.x. Clin Genet. 2004. PMID: 15151509

4

Molecular and clinical analyses of cystic fibrosis in the south of Spain.

Borrego S, Casals T, Dapena J, Fernández E, Giménez J, Cabeza JC, Sánchez J, Antiñolo G. Borrego S, et al. Among authors: casals t. Clin Genet. 1994 Oct;46(4):287-90. doi: 10.1111/j.1399-0004.1994.tb04161.x. Clin Genet. 1994. PMID: 7530610

5

Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles.

Faucz FR, Gimenez J, Ramos MD, Pereira-Ferrari L, Estivill X, Raskin S, Casals T, Culpi L. Faucz FR, et al. Among authors: casals t. Clin Genet. 2007 Sep;72(3):218-23. doi: 10.1111/j.1399-0004.2007.00854.x. Clin Genet. 2007. PMID: 17718859

6

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T. Alonso MJ, et al. Among authors: casals t. Ann Hum Genet. 2007 Mar;71(Pt 2):194-201. doi: 10.1111/j.1469-1809.2006.00310.x. Ann Hum Genet. 2007. PMID: 17331079

7

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

Ramos MD, Trujillano D, Olivar R, Sotillo F, Ossowski S, Manzanares J, Costa J, Gartner S, Oliva C, Quintana E, Gonzalez MI, Vazquez C, Estivill X, Casals T. Ramos MD, et al. Among authors: casals t. Clin Genet. 2014 Jul;86(1):91-5. doi: 10.1111/cge.12234. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23837941

8

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X. Trujillano D, et al. Among authors: casals t. J Med Genet. 2013 Jul;50(7):455-62. doi: 10.1136/jmedgenet-2013-101602. Epub 2013 May 17. J Med Genet. 2013. PMID: 23687349

9

CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries.

Ramos MD, Masvidal L, Giménez J, Bieth E, Seia M, des Georges M, Armengol L, Casals T. Ramos MD, et al. Among authors: casals t. Ann Hum Genet. 2010 Sep 1;74(5):463-9. doi: 10.1111/j.1469-1809.2010.00591.x. Epub 2010 Jun 17. Ann Hum Genet. 2010. PMID: 20560922

10

Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina.

Ramírez AM, Ramos MD, Jiménez J, Ghio A, de Botelli MM, Rezzónico CA, Marqués I, Pereyro S, Casals T, de Kremer RD. Ramírez AM, et al. Among authors: casals t. Mol Genet Metab. 2006 Apr;87(4):370-5. doi: 10.1016/j.ymgme.2005.12.001. Epub 2006 Jan 19. Mol Genet Metab. 2006. PMID: 16423550

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