Detalhe da pesquisa
1.
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Am J Med Genet B Neuropsychiatr Genet
; : e32976, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38385826
2.
Germline NUP98 Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835439
3.
Follicular Lymphoma Microenvironment Traits Associated with Event-Free Survival.
Int J Mol Sci
; 24(12)2023 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373066
4.
Role of Epigenetic Therapy in the Modulation of Tumor Growth and Migration in Human Castration-Resistant Prostate Cancer Cells with Neuroendocrine Differentiation.
Neuroendocrinology
; 112(6): 580-594, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348348
5.
TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis.
Int J Mol Sci
; 23(16)2022 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012536
6.
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
7.
Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families.
Curr Issues Mol Biol
; 43(3): 1778-1793, 2021 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889895
8.
Extensive Placental Methylation Profiling in Normal Pregnancies.
Int J Mol Sci
; 22(4)2021 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669975
9.
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Int J Mol Sci
; 22(3)2021 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33530447
10.
Dissecting the Pre-Columbian Genomic Ancestry of Native Americans along the Andes-Amazonia Divide.
Mol Biol Evol
; 36(6): 1254-1269, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895292
11.
Early-life factors, in-utero exposures and endometriosis risk: a meta-analysis.
Reprod Biomed Online
; 41(2): 279-289, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532666
12.
Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth.
Int J Mol Sci
; 21(14)2020 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32708910
13.
A frequent oligogenic involvement in congenital hypothyroidism.
Hum Mol Genet
; 26(13): 2507-2514, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444304
14.
Acid sensing ion channel 2: A new potential player in the pathophysiology of multiple sclerosis.
Eur J Neurosci
; 49(10): 1233-1243, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30549327
15.
The genetic legacy of the Yaghnobis: A witness of an ancient Eurasian ancestry in the historically reshuffled central Asian gene pool.
Am J Phys Anthropol
; 168(4): 717-728, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30693949
16.
PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival.
Neurol Sci
; 40(7): 1469-1473, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903418
17.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Int J Mol Sci
; 20(15)2019 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31344879
18.
Colorectal cancer early methylation alterations affect the crosstalk between cell and surrounding environment, tracing a biomarker signature specific for this tumor.
Int J Cancer
; 143(4): 907-920, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29542109
19.
Investigating multiple sclerosis genetic susceptibility on the founder population of east-central Sardinia via association and linkage analysis of immune-related loci.
Mult Scler
; 24(14): 1815-1824, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28933650
20.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(8): 2220-31, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256812