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1.
Chest CT features of COVID-19 in vaccinated versus unvaccinated patients: use of CT severity score and outcome analysis.
Radiol Med
; 128(8): 934-943, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37354309
2.
Genetics and Molecular Basis of Congenital Heart Defects in Down Syndrome: Role of Extracellular Matrix Regulation.
Int J Mol Sci
; 24(3)2023 Feb 02.
Article
in English
| MEDLINE | ID: mdl-36769235
3.
Quantitative CT texture analysis in predicting PD-L1 expression in locally advanced or metastatic NSCLC patients.
Radiol Med
; 126(11): 1425-1433, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34373989
4.
Targeting Mitochondrial Network Architecture in Down Syndrome and Aging.
Int J Mol Sci
; 21(9)2020 Apr 29.
Article
in English
| MEDLINE | ID: mdl-32365535
5.
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.
Hum Mol Genet
; 26(6): 1056-1069, 2017 03 15.
Article
in English
| MEDLINE | ID: mdl-28087733
6.
PAX8 expression in high-grade serous ovarian cancer positively regulates attachment to ECM via Integrin ß3.
Cancer Cell Int
; 19: 303, 2019.
Article
in English
| MEDLINE | ID: mdl-31832016
7.
Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.
Mol Med
; 24(1): 2, 2018 03 15.
Article
in English
| MEDLINE | ID: mdl-30134785
8.
Rab7 Regulates CDH1 Endocytosis, Circular Dorsal Ruffles Genesis, and Thyroglobulin Internalization in a Thyroid Cell Line.
J Cell Physiol
; 231(8): 1695-708, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-26599499
9.
NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome.
Hum Mol Genet
; 23(16): 4406-19, 2014 Aug 15.
Article
in English
| MEDLINE | ID: mdl-24698981
10.
Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.
Hum Mol Genet
; 22(6): 1218-32, 2013 Mar 15.
Article
in English
| MEDLINE | ID: mdl-23257287
11.
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.
BMC Med Genet
; 15: 88, 2014 Jul 24.
Article
in English
| MEDLINE | ID: mdl-25056293
12.
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.
Am J Med Genet A
; 164A(3): 753-9, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24357330
13.
Pictorial guide for variants of Covid-19: CT imaging and interpretation.
BJR Open
; 5(1): 20220011, 2023.
Article
in English
| MEDLINE | ID: mdl-37448469
14.
Overexpression of the Hsa21 Transcription Factor RUNX1 Modulates the Extracellular Matrix in Trisomy 21 Cells.
Front Genet
; 13: 824922, 2022.
Article
in English
| MEDLINE | ID: mdl-35356434
15.
Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 Overexpression.
Front Genet
; 13: 867989, 2022.
Article
in English
| MEDLINE | ID: mdl-35646085
16.
Activation of Non-Canonical Autophagic Pathway through Inhibition of Non-Integrin Laminin Receptor in Neuronal Cells.
Cells
; 11(3)2022 01 29.
Article
in English
| MEDLINE | ID: mdl-35159276
17.
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.
Am J Med Genet A
; 155A(7): 1697-705, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21671372
18.
Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs*15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother.
Stem Cell Res
; 53: 102311, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33799276
19.
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature.
J Matern Fetal Neonatal Med
; 34(18): 3089-3093, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-31630581
20.
Human Trisomic iPSCs from Down Syndrome Fibroblasts Manifest Mitochondrial Alterations Early during Neuronal Differentiation.
Biology (Basel)
; 10(7)2021 06 30.
Article
in English
| MEDLINE | ID: mdl-34209429