Detalhe da pesquisa
1.
Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.
Int J Mol Sci
; 25(7)2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38612397
2.
Mental health and the effects on methylation of stress-related genes in front-line versus other health care professionals during the second wave of COVID-19 pandemic: an Italian pilot study.
Eur Arch Psychiatry Clin Neurosci
; 273(2): 347-356, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001138
3.
Assessment of pregnancy dietary intake and association with maternal and neonatal outcomes.
Pediatr Res
; 91(7): 1890-1896, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34344991
4.
Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22, 2136.
Int J Mol Sci
; 23(10)2022 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628670
5.
Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
Int J Mol Sci
; 22(7)2021 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33810554
6.
Extensive Placental Methylation Profiling in Normal Pregnancies.
Int J Mol Sci
; 22(4)2021 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669975
7.
A miRNome analysis of drug-free manic psychotic bipolar patients versus healthy controls.
Eur Arch Psychiatry Clin Neurosci
; 270(7): 893-900, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422452
8.
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.
Clin Genet
; 95(3): 368-374, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471091
9.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Hum Mutat
; 37(2): 175-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486927
10.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Hum Genet
; 134(6): 613-26, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25805166
11.
TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival.
J Cell Mol Med
; 18(5): 766-79, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24606538
12.
ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men.
Hum Reprod
; 29(12): 2620-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25316452
13.
SNAT2 expression and regulation in human growth-restricted placentas.
Pediatr Res
; 74(2): 104-10, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23728383
14.
Violence against Women and Stress-Related Disorders: Seeking for Associated Epigenetic Signatures, a Pilot Study.
Healthcare (Basel)
; 11(2)2023 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36673541
15.
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Genes Genomics
; 45(5): 637-655, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454368
16.
Preferential X Chromosome Inactivation as a Mechanism to Explain Female Preponderance in Myasthenia Gravis.
Genes (Basel)
; 13(4)2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456502
17.
Circulating microRNAs Suggest Networks Associated with Biological Functions in Aggressive Refractory Type 2 Celiac Disease.
Biomedicines
; 10(6)2022 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740429
18.
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Biomolecules
; 11(11)2021 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34827619
19.
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.
Genet Med
; 12(10): 634-40, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20847698
20.
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Mol Genet Genomic Med
; 8(9): e1386, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627967