Search Results - "Cardaropoli, Simona"
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Helicobacter pylori and pregnancy-related disorders
Published in World journal of gastroenterology : WJG (21-01-2014)“…Helicobacter pylori(H.pylori)infection is investigated in gastric diseases even during pregnancy.In particular,this Gram-negative bacterium seems to be…”
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Role of the Macrophage Migration Inhibitory Factor in the Pathophysiology of Pre-Eclampsia
Published in International journal of molecular sciences (12-02-2021)“…Proinflammatory cytokines are produced in pregnancy in response to the invading pathogens and/or nonmicrobial causes such as damage-associated molecules and…”
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Pro-inflammatory profile of preeclamptic placental mesenchymal stromal cells: new insights into the etiopathogenesis of preeclampsia
Published in PloS one (19-03-2013)“…The objective of the present study was to evaluate whether placental mesenchymal stromal cells (PDMSCs) derived from normal and preeclamptic (PE) chorionic…”
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Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib
Published in Life (Basel, Switzerland) (01-06-2024)“…The RASopathies are a group of syndromes caused by genetic variants that affect the RAS-MAPK signaling pathway, which is essential for cell response to diverse…”
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Pregnancy Epigenetic Signature in T Helper 17 and T Regulatory Cells in Multiple Sclerosis
Published in Frontiers in immunology (08-01-2019)“…Increasing evidence supports the anti-inflammatory role of estrogens in Multiple Sclerosis (MS), originating from the observation of reduction in relapse rates…”
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Helicobacter pylori's virulence and infection persistence define pre-eclampsia complicated by fetal growth retardation
Published in World journal of gastroenterology : WJG (2011)“…AIM: To better understand the pathogenic role of Helicobacter pylori (H. pylori) in pre-eclampsia (PE), and whether it is associated or not with fetal growth…”
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Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing
Published in Journal of medical genetics (01-12-2021)“…Most cases of Beckwith-Wiedemann spectrum (BWSp) are diagnosed after birth and few studies evaluated the prenatal phenotype; here, we investigate these aspects…”
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Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
Published in European journal of human genetics : EJHG (01-11-2023)“…PIK3CA pathogenic variants are responsible for a group of overgrowth syndromes, collectively known as PIK3CA-Related Overgrowth Spectrum (PROS). These…”
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The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
Published in Genes chromosomes & cancer (01-12-2023)“…Heterozygous germline or somatic variants in AKT3 gene can cause isolated malformations of cortical development (MCDs) such as focal cortical dysplasia,…”
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Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth
Published in The Journal of pediatrics (01-07-2021)“…To provide information on evolution over time of leg length discrepancy in patients with syndromic and isolated lateralized overgrowth. This retrospective…”
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Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood
Published in The Journal of pediatrics (01-11-2024)“…To demonstrate a high-yield molecular diagnostic workflow for lateralized overgrowth (LO), a congenital condition with abnormal enlargement of body parts, and…”
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Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome
Published in American journal of medical genetics. Part A (01-09-2019)“…Background Beckwith‐Wiedemann syndrome (BWS) phenotype usually mitigates with age and data on adulthood are limited. Our study aims at reporting phenotype…”
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Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome
Published in Thrombosis research (01-12-2020)“…HELLP (Hemolysis, elevated liver enzymes and low platelets) syndrome is a severe and acute pregnancy-related disorder that occurs in approximately 2.5 per 1000…”
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Lateralized and Segmental Overgrowth in Children
Published in Cancers (07-12-2021)“…Congenital disorders of lateralized or segmental overgrowth (LO) are heterogeneous conditions with increased tissue growth in a body region. LO can affect…”
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Helicobacter pylori's virulence and infection persistence define pre-eclampsia complicated by fetal growth retardation
Published in World journal of gastroenterology : WJG (21-12-2011)“…To better understand the pathogenic role of Helicobacter pylori (H. pylori) in pre-eclampsia (PE), and whether it is associated or not with fetal growth…”
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Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome
Published in Genes chromosomes & cancer (01-12-2022)“…Cutaneous skeletal hypophosphatemia syndrome (CSHS) is caused by somatic mosaic NRAS variants and characterized by melanocytic/sebaceous naevi, eye, and brain…”
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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Published in European journal of human genetics : EJHG (01-11-2023)“…Despite major advances in genome technology and analysis, >50% of patients with a neurodevelopmental disorder (NDD) remain undiagnosed after extensive…”
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Helicobacter pylori seropositivity and pregnancy-related diseases: a prospective cohort study
Published in Journal of reproductive immunology (01-06-2015)“…Highlights • H. pylori seropositivity before 20 weeks is associated with gestational diabetes. • Maternal H. pylori seropositivity is independently associated…”
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A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
Published in Clinical genetics (01-05-2021)“…Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by heterozygous germline activating pathogenic variants in mammalian target of…”
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Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies
Published in Genes chromosomes & cancer (01-11-2022)“…Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of congenital conditions with excessive body tissue growth. Documented…”
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