Detalhe da pesquisa
1.
Human Bronchial Epithelial Cell Transcriptome Changes in Response to Serum from Patients with Different Status of Inflammation.
Lung
; 202(2): 157-170, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38494528
2.
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Int J Mol Sci
; 24(16)2023 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37628828
3.
Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.
Int J Mol Sci
; 24(15)2023 Aug 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37569847
4.
Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways.
Int J Mol Sci
; 23(18)2022 Sep 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36142337
5.
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Int J Mol Sci
; 23(16)2022 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-36012761
6.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Am J Med Genet A
; 185(3): 877-883, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33346930
7.
A Novel Mouse Monoclonal Antibody C42 against C-Terminal Peptide of Alpha-1-Antitrypsin.
Int J Mol Sci
; 22(4)2021 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-33670003
8.
New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
Am J Respir Cell Mol Biol
; 63(4): 444-451, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32515985
9.
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships.
J Hum Genet
; 65(2): 165-174, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-31772335
10.
Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Am J Respir Cell Mol Biol
; 58(6): 706-716, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29232161
11.
MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors.
Int J Cancer
; 136(3): 593-602, 2015 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24917463
12.
Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.
J Transl Med
; 13: 211, 2015 Jul 04.
Artigo
Inglês
| MEDLINE | ID: mdl-26141700
13.
Tumor microRNA expression profiling identifies circulating microRNAs for early breast cancer detection.
Clin Chem
; 61(8): 1098-106, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26056355
14.
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Respir Res
; 15: 125, 2014 Oct 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25287719
15.
MicroRNA profile in very young women with breast cancer.
BMC Cancer
; 14: 529, 2014 Jul 21.
Artigo
Inglês
| MEDLINE | ID: mdl-25047087
16.
Genetic anticipation is associated with telomere shortening in hereditary breast cancer.
PLoS Genet
; 7(7): e1002182, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21829373
17.
An association between plasma levels of α2-macroglobulin and α1-antitrypsin in PiMM and PiZZ individuals differing in COPD presentation.
Clin Biochem
; 126: 110736, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38428450
18.
Distinct metabolic responses to heme in inflammatory human and mouse macrophages - Role of nitric oxide.
Redox Biol
; 73: 103191, 2024 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38762951
19.
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Mov Disord Clin Pract
; 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38698576
20.
Short telomeres are frequent in hereditary breast tumors and are associated with high tumor grade.
Breast Cancer Res Treat
; 141(2): 231-42, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-24036693