Detalhe da pesquisa
1.
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.
Mol Psychiatry
; 22(8): 1119-1125, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27956742
2.
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Mol Psychiatry
; 21(6): 831-6, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26303663
3.
HLA-A*31:01 and different types of carbamazepine-induced severe cutaneous adverse reactions: an international study and meta-analysis.
Pharmacogenomics J
; 14(3): 281-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24322785
4.
A homogenizing process of selection has maintained an "ultra-slow" acetylation NAT2 variant in humans.
Hum Biol
; 86(3): 185-214, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25836746
5.
Sub-nanoradiant beam pointing monitoring and stabilization system for controlling input beam jitter in gravitational wave interferometers.
Appl Opt
; 53(13): 2906-16, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24921879
6.
Displacement noise from back scattering and specular reflection of input optics in advanced gravitational wave detectors.
Opt Express
; 21(9): 10546-62, 2013 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23669911
7.
APOE and Alzheimer disease: a major gene with semi-dominant inheritance.
Mol Psychiatry
; 16(9): 903-7, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21556001
8.
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
J Med Genet
; 46(11): 752-8, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19880712
9.
Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1.
Science
; 287(5461): 2274-7, 2000 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-10731151
10.
Functionalisation of TiO2 nanoparticles with a fluorescent organosilane: A synergy enabling their visualisation in biological cells and an enhanced photocatalytic activity.
Colloids Surf B Biointerfaces
; 181: 1019-1025, 2019 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31382329
11.
HLA-DRB1*15 allele influences the later course of relapsing remitting multiple sclerosis.
Genes Immun
; 9(6): 570-4, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18615093
12.
Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)
J Clin Invest
; 105(5): 673-81, 2000 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-10712439
13.
Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2).
J Clin Endocrinol Metab
; 83(10): 3592-6, 1998 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9768670
14.
A robust test for assortative mating.
Eur J Hum Genet
; 8(2): 119-24, 2000 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-10757643
15.
Determination of polychlorodibenzo-p-dioxins and polychlorodibenzofurans by gas chromatography/tandem mass spectrometry and gas chromatography/triple mass spectrometry in a quadrupole ion trap.
J Mass Spectrom
; 36(5): 546-54, 2001 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-11391811
16.
Genetic studies of polymorphisms in ten non-insulin-dependent diabetes mellitus candidate genes in Tamil Indians from Pondichery.
Diabetes Metab
; 24(3): 244-50, 1998 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-9690058
17.
Application of liquid chromatography with mass spectrometry combined with photodiode array detection and tandem mass spectrometry for monitoring pesticides in surface waters.
J Chromatogr A
; 879(1): 51-71, 2000 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-10870695
18.
1,2,4-Oxadiazoles identified by virtual screening and their non-covalent inhibition of the human 20S proteasome.
Curr Med Chem
; 20(18): 2351-62, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23531222
19.
Estimating the age of rare disease mutations: the example of Triple-A syndrome.
J Med Genet
; 41(6): 445-9, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15173230
20.
Proteasome inhibitors: recent advances and new perspectives in medicinal chemistry.
Curr Top Med Chem
; 10(3): 232-56, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20166955