Detalhe da pesquisa
1.
Ethanol-mediated upregulation of APOA1 gene expression in HepG2 cells is independent of de novo lipid biosynthesis.
Lipids Health Dis
; 19(1): 144, 2020 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32563265
2.
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
PLoS Genet
; 12(10): e1006335, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27760138
3.
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Am J Hum Genet
; 94(6): 809-17, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906018
4.
The case for locus-specific databases.
Nat Rev Genet
; 12(6): 378-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21540879
5.
Germline mutations in MAP3K6 are associated with familial gastric cancer.
PLoS Genet
; 10(10): e1004669, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340522
6.
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Hum Mol Genet
; 23(4): 980-91, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105469
7.
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
J Med Genet
; 52(5): 303-11, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25650066
8.
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Am J Hum Genet
; 90(4): 693-700, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22425360
9.
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Hum Mutat
; 35(11): 1285-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25130867
10.
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
BMC Med Genet
; 15: 139, 2014 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25524009
11.
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.
J Med Genet
; 50(5): 324-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23423984
12.
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.
J Med Genet
; 50(11): 740-4, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23687350
13.
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.
Hum Mutat
; 34(1): 103-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23033317
14.
A novel rearrangement of occludin causes brain calcification and renal dysfunction.
Hum Genet
; 132(11): 1223-34, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23793442
15.
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Am J Hum Genet
; 87(1): 40-51, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598275
16.
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.
PLoS Genet
; 6(8)2010 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20865121
17.
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
Proc Natl Acad Sci U S A
; 107(17): 7863-8, 2010 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-20385823
18.
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
Nat Genet
; 32(2): 326-30, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12172548
19.
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Nat Genet
; 36(1): 77-82, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14647275
20.
Genomic Sequence of Canadian Chenopodium berlandieri: A North American Wild Relative of Quinoa.
Plants (Basel)
; 12(3)2023 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36771551