about
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.Rab7 Regulates CDH1 Endocytosis, Circular Dorsal Ruffles Genesis, and Thyroglobulin Internalization in a Thyroid Cell Line.Hmga1 null mouse embryonic fibroblasts display downregulation of spindle assembly checkpoint gene expression associated to nuclear and karyotypic abnormalities.Overexpression of Chromosome 21 miRNAs May Affect Mitochondrial Function in the Hearts of Down Syndrome Fetuses.Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications.NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome.40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features.Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells.Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report.Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets.Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defectsChromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal TranslucencyFirst trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literaturePAX8 expression in high-grade serous ovarian cancer positively regulates attachment to ECM via Integrin β3Pioglitazone Improves Mitochondrial Organization and Bioenergetics in Down Syndrome Cells
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Antonella Izzo
@ast
Antonella Izzo
@en
Antonella Izzo
@es
Antonella Izzo
@nl
type
label
Antonella Izzo
@ast
Antonella Izzo
@en
Antonella Izzo
@es
Antonella Izzo
@nl
prefLabel
Antonella Izzo
@ast
Antonella Izzo
@en
Antonella Izzo
@es
Antonella Izzo
@nl
P1053
F-6272-2013
P106
P21
P31
P3829
P496
0000-0002-2672-4803