Detalhe da pesquisa
1.
NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report.
BMC Endocr Disord
; 21(1): 202, 2021 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34654408
2.
Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells.
Haematologica
; 102(7): 1204-1214, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28411256
3.
Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.
Ann Hepatol
; 15(5): 795-800, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27493120
4.
Inferring the genetic history of lactase persistence along the Italian peninsula from a large genomic interval surrounding the LCT gene.
Am J Phys Anthropol
; 158(4): 708-18, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26175013
5.
High-throughput genotyping of high-risk Human Papillomavirus by MALDI-TOF Mass Spectrometry-based method.
New Microbiol
; 38(2): 211-23, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25938746
6.
Glutathione transferase-A2 S112T polymorphism predicts survival, transplant-related mortality, busulfan and bilirubin blood levels after allogeneic stem cell transplantation.
Haematologica
; 99(1): 172-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24056816
7.
TRPV1 channels regulate cortical excitability in humans.
J Neurosci
; 32(3): 873-9, 2012 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22262885
8.
A patient with pancreas divisum, recurrent acute pancreatitis, and homozygosity for the cystic fibrosis transmembrane regulator-associated protein 5T allele.
Clin Gastroenterol Hepatol
; 11(5): 579-81, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23416327
9.
In hepatocellular carcinoma miR-519d is up-regulated by p53 and DNA hypomethylation and targets CDKN1A/p21, PTEN, AKT3 and TIMP2.
J Pathol
; 227(3): 275-85, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22262409
10.
dHPLC efficiency for semi-automated cDNA-AFLP analyses and fragment collection in the apple scab-resistance gene model.
Planta
; 235(5): 1065-80, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22270558
11.
Onset of type 1 diabetes mellitus in two patients with maturity onset diabetes of the young.
Pediatr Diabetes
; 13(2): 208-12, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21696527
12.
Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series.
J Pers Med
; 12(10)2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36294752
13.
Genetic variants of the NMDA receptor influence cortical excitability and plasticity in humans.
J Neurophysiol
; 106(4): 1637-43, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21753020
14.
The (AAT)n repeat of the cannabinoid CB1 receptor gene influences disease progression in relapsing multiple sclerosis.
Mult Scler
; 17(3): 281-8, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21148019
15.
Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies.
Brain
; 133(Pt 8): 2426-38, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20659957
16.
Association between CANCA1C gene rs1034936 polymorphism and alcohol dependence in bipolar disorder.
J Affect Disord
; 261: 181-186, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31634677
17.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Front Genet
; 11: 464, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32457805
18.
Genetic variants associated with psychotic symptoms across psychiatric disorders.
Neurosci Lett
; 720: 134754, 2020 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31945448
19.
Effect of Different Tube Feeding Methods on the Delivery of Docosahexaenoic and Arachidonic Acid: An In Vitro Pilot Study.
JPEN J Parenter Enteral Nutr
; 43(4): 550-556, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260487
20.
5-methyltetrahydrofolate administration is associated with prolonged survival and reduced inflammation in ESRD patients.
Am J Nephrol
; 28(6): 941-8, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18587236