Detalhe da pesquisa
1.
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.
Hum Mol Genet
; 31(9): 1389-1406, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761259
2.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Prenat Diagn
; 42(13): 1575-1586, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403097
3.
Cardiovascular, Brain, and Lung Involvement in a Newborn With a Novel FLNA Mutation: A Case Report and Literature Review.
Adv Neonatal Care
; 22(2): 125-131, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852449
4.
Functional evidence of mTORß splice variant involvement in the pathogenesis of congenital heart defects.
Clin Genet
; 99(3): 425-429, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236357
5.
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
Am J Med Genet A
; 185(6): 1897-1902, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33750022
6.
Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report.
Medicina (Kaunas)
; 57(12)2021 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946295
7.
Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies.
Prenat Diagn
; 40(11): 1474-1481, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33034897
8.
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Clin Genet
; 95(1): 165-171, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30288735
9.
NANOG Plays a Hierarchical Role in the Transcription Network Regulating the Pluripotency and Plasticity of Adipose Tissue-Derived Stem Cells.
Int J Mol Sci
; 18(6)2017 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28545230
10.
14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.
Am J Med Genet A
; 170(7): 1884-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148860
11.
Regulation of the biogenesis of OXPHOS complexes in cell transition from replicating to quiescent state: involvement of PKA and effect of hydroxytyrosol.
Biochim Biophys Acta
; 1843(4): 675-84, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24389246
12.
The p66Shc protein controls redox signaling and oxidation-dependent DNA damage in human liver cells.
Am J Physiol Gastrointest Liver Physiol
; 309(10): G826-40, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26336926
13.
Lipodystrophic diabetes mellitus: a lesson for other forms of diabetes?
Curr Diab Rep
; 15(3): 12, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25687500
14.
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
Nat Genet
; 37(11): 1258-63, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16227998
15.
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.
Genes (Basel)
; 14(12)2023 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137016
16.
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Nat Commun
; 14(1): 1475, 2023 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928426
17.
Human adipose tissue stem cells: relevance in the pathophysiology of obesity and metabolic diseases and therapeutic applications.
Expert Rev Mol Med
; 14: e19, 2012 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23302474
18.
Horizontal Gaze Palsy with Progressive Scoliosis with Overlapping Epilepsy and Learning Difficulties: A Case Report.
Brain Sci
; 12(5)2022 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35625000
19.
Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health.
Front Oncol
; 12: 966063, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35992853
20.
Cytogenetic and Array-CGH Characterization of a Simple Case of Reciprocal t(3;10) Translocation Reveals a Hidden Deletion at 5q12.
Genes (Basel)
; 12(6)2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34200357