Detalhe da pesquisa
1.
Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies.
Cytogenet Genome Res;
160(10): 579-588, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33152732
2.
Familial 3-Way Balanced Translocation Causes 1q43âqter Loss and 10q25.2âqter Gain in a Severely Affected Male Toddler.
Cytogenet Genome Res;
157(4): 231-238, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30933949
3.
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.
Neurogenetics;
16(4): 287-98, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26163108
4.
Downregulation of inducible nitric oxide synthase (iNOS) expression is implicated in the antiviral activity of acetylsalicylic acid in HCV-expressing cells.
Arch Virol;
159(12): 3321-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25106115
5.
Review of the Impact of Biofilm Formation on Recurrent Clostridioides difficile Infection.
Microorganisms;
11(10)2023 Oct 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37894183
6.
Transcriptomic analysis of biofilm formation in strains of Clostridioides difficile associated with recurrent and non-recurrent infection reveals potential candidate markers for recurrence.
PLoS One;
18(8): e0289593, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37535660
7.
SPAG17 mediates nuclear translocation of protamines during spermiogenesis.
Front Cell Dev Biol;
11: 1125096, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37766963
8.
Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis.
J Invest Dermatol;
143(2): 284-293, 2023 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36116512
9.
Carbapenemase-Encoding Genes and Colistin Resistance in Gram-Negative Bacteria During the COVID-19 Pandemic in Mexico: Results from the Invifar Network.
Microb Drug Resist;
29(6): 239-248, 2023 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36595348
10.
Whole genome analysis of Gram-negative bacteria using the EPISEQ CS application and other bioinformatic platforms.
J Glob Antimicrob Resist;
33: 61-71, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36878463
11.
A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing.
Eur J Med Genet;
65(10): 104579, 2022 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35933106
12.
Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
Mol Syndromol;
12(4): 250-257, 2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34421504
13.
Complete Genome Sequences of Mycobacterium tuberculosis Isolates Subjected to 200 Continuous Passages.
Microbiol Resour Announc;
9(26)2020 Jun 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32586855
14.
Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.
Autoimmunity;
53(6): 344-352, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32597225
15.
Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
J Genet;
98(2)2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31204697
16.
Complete Genome Sequence of Houston Virus, a Newly Discovered Mosquito-Specific Virus Isolated from Culex quinquefasciatus in Mexico.
Microbiol Resour Announc;
7(10)2018 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30533617
17.
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
Eur J Med Genet;
61(3): 161-167, 2018 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29174089
18.
Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion.
Am J Med Genet A;
158A(6): 1498-502, 2012 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22581498
19.
Two girls with a de novo Xq rearrangement of paternal origin: t(X;9)(q24;q12) or rea(X)dup q.
Taiwan J Obstet Gynecol;
55(2): 275-80, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27125414
20.
Oxidative stress modulation in hepatitis C virus infected cells.
World J Hepatol;
7(29): 2880-9, 2015 Dec 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26692473