Detalhe da pesquisa
1.
Dose and time effects of solar-simulated ultraviolet radiation on the in vivo human skin transcriptome.
Br J Dermatol
; 182(6): 1458-1468, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529490
2.
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.
Clin Genet
; 86(1): 91-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23837941
3.
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.
J Med Genet
; 50(7): 455-62, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23687349
4.
Interaction of SLC1A1 gene variants and life stress on pharmacological resistance in obsessive-compulsive disorder.
Pharmacogenomics J
; 13(5): 470-5, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22776887
5.
Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.
Nat Genet
; 28(3): 294-6, 2001 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-11431704
6.
The origin of the major cystic fibrosis mutation (delta F508) in European populations.
Nat Genet
; 7(2): 169-75, 1994 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-7920636
7.
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Nat Genet
; 23(1): 52-7, 1999 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10471498
8.
CYP2D6 polymorphism in patients with eating disorders.
Pharmacogenomics J
; 12(2): 173-5, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20877302
9.
Influence of fetal glutathione S-transferase copy number variants on adverse reproductive outcomes.
BJOG
; 119(9): 1141-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22676722
10.
ADRB2 Gly16Arg polymorphism, asthma control and lung function decline.
Eur Respir J
; 38(5): 1029-35, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21436355
11.
DNA methylation in neurodegenerative disorders: a missing link between genome and environment?
Clin Genet
; 80(1): 1-14, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21542837
12.
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.
Mol Psychiatry
; 15(10): 1023-33, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19528963
13.
Positionally cloned genes and age-specific effects in asthma and atopy: an international population-based cohort study (ECRHS).
Thorax
; 65(2): 124-31, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19996348
14.
Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB.
Mol Psychiatry
; 14(1): 71-85, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17938636
15.
Joint effect of obesity and TNFA variability on asthma: two international cohort studies.
Eur Respir J
; 33(5): 1003-9, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19196817
16.
Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study.
Nutr Neurosci
; 12(4): 183-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19622243
17.
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
J Med Genet
; 45(4): 200-9, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17965227
18.
Spectrum of clinical heterogeneity of ß-tubulin TUBB5 gene mutations.
Gene
; 695: 12-17, 2019 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30738969
19.
TNFA -308G>A in two international population-based cohorts and risk of asthma.
Eur Respir J
; 32(2): 350-61, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385169
20.
The emerging role of structural variations in common disorders: initial findings and discovery challenges.
Cytogenet Genome Res
; 123(1-4): 108-17, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19287145