Detalhe da pesquisa
1.
Systematic reanalysis of genomic data improves quality of variant interpretation.
Clin Genet
; 94(1): 174-178, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29652076
2.
mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.
Clin Genet
; 91(3): 476-481, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27174726
3.
Novel personalized therapies for cystic fibrosis: treating the basic defect in all patients.
J Intern Med
; 277(2): 155-166, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25266997
4.
Prolonged treatment of cells with genistein modulates the expression and function of the cystic fibrosis transmembrane conductance regulator.
Br J Pharmacol
; 153(6): 1311-23, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18223673
5.
Expression of voltage-gated chloride channels in human glioma cells.
J Neurosci
; 23(13): 5572-82, 2003 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-12843258
6.
Heat-shock-induced protein synthesis is responsible for the switch-off of hsp70 transcription in Tetrahymena.
Biochim Biophys Acta
; 1174(2): 133-42, 1993 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-8357830
7.
Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.
J Med Genet
; 40(7): e88, 2003 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12843337
8.
Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.
J Med Genet
; 38(11): 777-83, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11732487
9.
Bacterial transfer of large functional genomic DNA into human cells.
Gene Ther
; 12(21): 1559-72, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15973438
10.
Stress response of Tetrahymena pyriformis to arsenite and heat shock: differences and similarities.
Eur J Biochem
; 171(3): 463-70, 1988 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-3126063
11.
Ionic transport in tall columnar epithelial (TCE) cells obtained by nasal brushing from non-cystic fibrosis (CF) individuals.
Acta Med Port
; 17(6): 427-34, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-16197854
12.
Crystallization and preliminary X-ray diffraction analysis of protein L-isoaspartyl O-methyltransferase from wheat germ.
Acta Crystallogr D Biol Crystallogr
; 57(Pt 2): 304-5, 2001 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11173488
13.
Cystic fibrosis F508del patients have apically localized CFTR in a reduced number of airway cells.
Lab Invest
; 80(6): 857-68, 2000 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10879737
14.
Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
Hum Mutat
; 14(2): 133-44, 1999.
Artigo
em Inglês
| MEDLINE | ID: mdl-10425036
15.
Estudo das relacoes familiares de um adolescente psicotico. / Study of family relations of a psychotic adolescent
J. bras. psiquiatr
; 32(3): 155-68, 1983.
Artigo
em Português
| LILACS | ID: lil-17605