Detalhe da pesquisa
1.
Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report.
Breast Cancer Res Treat
; 177(3): 767-770, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31292799
2.
Multiparametric analysis of anti-proliferative and apoptotic effects of gold nanoprisms on mouse and human primary and transformed cells, biodistribution and toxicity in vivo.
Part Fibre Toxicol
; 14(1): 41, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073907
3.
[Risk factors for cancer-related cognitive impairment in breast and colorectal cancer patients who undergo chemotherapy].
An Sist Sanit Navar
; 46(2)2023 Aug 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-37594060
4.
Association between missense variants of uncertain significance in the CHEK2 gene and hereditary breast cancer: a cosegregation and bioinformatics analysis.
Front Genet
; 14: 1274108, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38476463
5.
Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
J Lipid Res
; 53(10): 2046-2056, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22847177
6.
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Mol Biol Rep
; 39(4): 4777-85, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21952825
7.
Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.
Int J Cardiol
; 301: 220-225, 2020 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31740141
8.
Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's disease.
Mult Scler Relat Disord
; 38: 101466, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31715500
9.
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Hum Mutat
; 30(3): E520-9, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19177531
10.
Pneumocystis jirovecii in Spanish Patients With Heart Failure.
Front Public Health
; 7: 289, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649914
11.
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
Biophys Chem
; 115(2-3): 241-5, 2005 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15752612
12.
Elucidating sources and roles of granzymes A and B during bacterial infection and sepsis.
Cell Rep
; 8(2): 420-9, 2014 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-25017060
13.
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Eur J Med Genet
; 56(8): 411-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23751782
14.
Molecular genetics of HMG-CoA lyase deficiency.
Mol Genet Metab
; 92(3): 198-209, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17692550
15.
C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.
Mol Genet Metab
; 91(2): 120-7, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17459752
16.
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
J Biol Chem
; 278(31): 29016-23, 2003 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12746442