Detalhe da pesquisa
1.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
2.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Genet Med
; 23(8): 1514-1521, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846581
3.
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Am J Med Genet A
; 185(5): 1366-1378, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522091
4.
Mutation update for the SATB2 gene.
Hum Mutat
; 40(8): 1013-1029, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021519
5.
A common variant in the CLDN7/ELP5 locus predicts adiponectin change with lifestyle intervention and improved fitness in obese individuals with diabetes.
Physiol Genomics
; 47(6): 215-24, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759378
6.
Genetics of familial hypercholesterolemia.
Curr Atheroscler Rep
; 17(4): 491, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712136
7.
Differential Lipid Response to Statins Is Associated With Variants in the BUD13-APOA5 Gene Region.
J Cardiovasc Pharmacol
; 66(2): 183-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900265
8.
Knowledge-driven analysis identifies a gene-gene interaction affecting high-density lipoprotein cholesterol levels in multi-ethnic populations.
PLoS Genet
; 8(5): e1002714, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22654671
9.
Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy.
J Lipid Res
; 54(7): 1980-7, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633496
10.
Associations between lipoprotein(a) levels and cardiovascular outcomes in black and white subjects: the Atherosclerosis Risk in Communities (ARIC) Study.
Circulation
; 125(2): 241-9, 2012 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-22128224
11.
Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia.
J Lipid Res
; 53(11): 2425-8, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22896670
12.
LPL gene variants affect apoC-III response to combination therapy of statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia.
J Lipid Res
; 53(3): 556-560, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22236405
13.
Chromosome 9p21 single nucleotide polymorphisms are not associated with recurrent myocardial infarction in patients with established coronary artery disease.
Circ J
; 76(4): 950-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22322877
14.
FBN1 mutations in patients with descending thoracic aortic dissections.
Am J Med Genet A
; 152A(2): 413-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082464
15.
Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.
Mol Genet Metab
; 96(2): 59-65, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19062322
16.
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
Mol Genet Metab
; 94(4): 485-490, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18495510
17.
Gaucher disease in Arab patients at an Israeli referral clinic.
Isr Med Assoc J
; 10(8-9): 600-2, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18847161
18.
Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.
BioData Min
; 10: 25, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28770004
19.
Necrotizing soft tissue infection: an unusual and devastating complication of pressure sores.
Isr Med Assoc J
; 13(7): 442-3, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21838191
20.
Severe hypercholesterolemia and liver disease in a 3-year old.
J Clin Lipidol
; 10(3): 650-3, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27206954