Detalhe da pesquisa
1.
A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.
Am J Med Genet A
; : e63611, 2024 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-38528425
2.
A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the SLC34A1 Gene in a Male Patient with Recurrent Nephrolithiasis and Early Onset Osteopenia: A Case Report.
Int J Mol Sci
; 24(24)2023 Dec 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38139117
3.
Genomic history of the Italian population recapitulates key evolutionary dynamics of both Continental and Southern Europeans.
BMC Biol
; 18(1): 51, 2020 05 22.
Artigo
Inglês
| MEDLINE | ID: mdl-32438927
4.
Distinct Viral and Mutational Spectrum of Endemic Burkitt Lymphoma.
PLoS Pathog
; 11(10): e1005158, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26468873
5.
Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells.
Haematologica
; 102(7): 1204-1214, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28411256
6.
The epigenetic landscape of age-related diseases: the geroscience perspective.
Biogerontology
; 18(4): 549-559, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28352958
7.
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
Inglês
| MEDLINE | ID: mdl-27493120
8.
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
Inglês
| MEDLINE | ID: mdl-26175013
9.
High-throughput genotyping of high-risk Human Papillomavirus by MALDI-TOF Mass Spectrometry-based method.
New Microbiol
; 38(2): 211-23, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25938746
10.
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
Inglês
| MEDLINE | ID: mdl-24056816
11.
TRPV1 channels regulate cortical excitability in humans.
J Neurosci
; 32(3): 873-9, 2012 Jan 18.
Artigo
Inglês
| MEDLINE | ID: mdl-22262885
12.
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
Inglês
| MEDLINE | ID: mdl-22262409
13.
High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.
Eur J Endocrinol
; 188(1)2023 Jan 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36762943
14.
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
Inglês
| MEDLINE | ID: mdl-22270558
15.
A Targeted Epigenetic Clock for the Prediction of Biological Age.
Cells
; 11(24)2022 12 14.
Artigo
Inglês
| MEDLINE | ID: mdl-36552808
16.
Genetic variants of the NMDA receptor influence cortical excitability and plasticity in humans.
J Neurophysiol
; 106(4): 1637-43, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21753020
17.
Clinical, Radiometabolic and Immunologic Effects of Olaparib in Locally Advanced Triple Negative Breast Cancer: The OLTRE Window of Opportunity Trial.
Front Oncol
; 11: 686776, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34262869
18.
Whole-genome sequencing analysis of semi-supercentenarians.
Elife
; 102021 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33941312
19.
Author Correction: Erythropoietin (EPO) haplotype associated with all-cause mortality in a cohort of Italian patients with Type-2 Diabetes.
Sci Rep
; 10(1): 3554, 2020 Feb 21.
Artigo
Inglês
| MEDLINE | ID: mdl-32081853
20.
Erythropoietin (EPO) haplotype associated with all-cause mortality in a cohort of Italian patients with Type-2 Diabetes.
Sci Rep
; 9(1): 10395, 2019 07 17.
Artigo
Inglês
| MEDLINE | ID: mdl-31316151