pubblicazioni scientifiche
La presente sezione raccoglie la nostra produzione scientifica dal 2020 ad oggi. Questo repertorio documenta l’intensa attività di ricerca portata avanti in questi anni e include articoli pubblicati su riviste nazionali e internazionali. Le pubblicazioni qui presentate riflettono il nostro costante impegno nel contribuire all’avanzamento della conoscenza nel mondo medico.
2025
DIAGNOSI PRENATALE E RIPRODUTTIVA
Maternal Folate Receptor Alpha Autoantibodies and Increased Fetal Nuchal Translucency as Potential Early Markers of Autism Spectrum Disorder
Giorlandino C, Margiotti K, Fabiani M, Mesoraca A
NEUROGENETICA E MALATTIE RARE
A Case Report of 10q24.32 Microduplication associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis
Fabiani M, Margiotti K, Libotte F, et al.
DIAGNOSI PRENATALE E RIPRODUTTIVA
Folinic acid supplementation during pregnancy in two women with folate receptor alpha autoantibodies: potential prevention of autism spectrum disorder in offspring
Giorlandino C, Margiotti K, Fabiani M, Mesoraca A
NEUROGENETICA E MALATTIE RARE
Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome
Margiotti K, Fabiani M, Zangheri C, et al.
NEUROGENETICA E MALATTIE RARE
Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis
Marco Fabiani, Costanza Zangheri, Antonella Cima, Francesca Monaco, Chiara Ali’, Maria Antonietta Barone, Antonella Viola, Alvaro Mesoraca, Katia Margiotti, Claudio Giorlandino
DIAGNOSI PRENATALE E RIPRODUTTIVA
Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)
Marco Fabiani, Katia Margiotti, Francesco Libotte, Chiara Alì, Costanza Zangheri, Maria Antonietta Barone, Antonella Viola, Antonella Cima, Giovanna Buonomo, Danilo Cristofano, Assunta Lippa, Chiara Pasquale, Mario Montanino Oliva, Alvaro Mesoraca, Claudio Giorlandino
2024
NEUROGENETICA E MALATTIE RARE
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies
Katia Margiotti, Marco Fabiani, Antonella Cima, Antonella Viola, Francesca Monaco, Chiara Alì, Costanza Zangheri, Carmela Abramo, Claudio Coco, Alvaro Mesoraca, Claudio Giorlandino
NEUROGENETICA E MALATTIE RARE
Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants
Katia Margiotti, Francesco Libotte, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino
DIAGNOSI PRENATALE E RIPRODUTTIVA
Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience
Katia Margiotti, Marco Fabiani, Antonella Cima, Francesco Libotte, Alvaro Mesoraca, Claudio Giorlandino
DIAGNOSI PRENATALE E RIPRODUTTIVA
Fetal Precise Medicine Achieved by Trio Exome Sequencing Analysis
Katia Margiotti, Claudio Giorlandino
2023
NUTRIGENETICA E LONGEVITY
Epigenetic Clocks: In Aging-Related and Complex Diseases
Katia Margiotti, Francesca Monaco, Marco Fabiani, Antonella Viola, Antonella Cima, Alvaro Mesoraca, Claudio Giorlandino
NEUROGENETICA E MALATTIE RARE
Validating Clinical Exome Sequencing (CES) Test for Copy Number Variation (CNV) Analysis in Patients with Autism Spectrum Disorder
Katia Margiotti, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino
INFETTIVOLOGIA
Dynamics of SARS-CoV-2 Specific B Cell Memory Responses in Infected and Vaccinated Individuals
Fabiani M, Margiotti K, Cima A, Viola A, Mesoraca A, Giorlandino C
DIAGNOSI PRENATALE E RIPRODUTTIVA
De Novo 3q13.13q21.2 Interstitial Deletion and Paternal 12p13.3 Microdeletion in a Fetus with Dysplasia of the Corpus Callosum and Ventriculomegaly
Libotte F, Fabiani M, Margiotti K, Carpineto LS, Monaco F, Raffio R, Mesoraca A, Giorlandino C
NEUROGENETICA E MALATTIE RARE
Re-Evaluation of Clinical Exome Can Identify Pathogenic Variants for Patients with Autism Spectrum Disorder
Katia Margiotti, Marco Fabiani, Alvaro Mesoraca, Claudio Giorlandino
2022
DIAGNOSI PRENATALE E RIPRODUTTIVA
Agnathia-Otocephaly Complex Due to a De Novo Deletion in OTX2 Gene
Fabiani M, Libotte F, Margiotti K, Tannous DK, Sparacino D, D’aleo MP, Monaco F, Dello Russo C, Mesoraca A, Giorlandino C
INFETTIVOLOGIA
Survey of Fully Vaccinated Anti-COVID 19 People from June to November 2021: Single Italian Center Study
Margiotti K, Fabiani M, Mesoraca A, Giorlandino C
INFETTIVOLOGIA
Letter to the Editor: The Clinical Features of SARS-CoV-2 Infection Are Becoming Milder with Limited Symptomatic Effects
Margiotti K, Fabiani M, Mesoraca A, Giorlandino C
INFETTIVOLOGIA
A Rapid and Consistent Method to Identify Four SARS-CoV-2 Variants during the First Half of 2021 by RT-PCR
Fabiani M, Margiotti K, Sabatino M, Viola A, Mesoraca A, Giorlandino C
2021
DIAGNOSI PRENATALE E RIPRODUTTIVA
Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication
Libotte F, Fabiani M, Margiotti K, Viola A, Mesoraca A, Giorlandino C
INFETTIVOLOGIA
Natural Immune Response and Protection from SARS-CoV-2 Reinfection
Margiotti K, Fabiani M, Mesoraca A, Giorlandino C
INFETTIVOLOGIA
Retrospective Observational Study on Environmental Impact on the SARS-CoV-2 Virus Transmission Based on Exclusion Criteria
Margiotti K, Fabiani M, Cupellaro M, Mesoraca A, Giorlandino C
INFETTIVOLOGIA
Local Transmission of SARS-CoV-2 Virus in Rome, Italy: A Single Center Experience
Margiotti K, Fabiani M, Giorlandino F, Cupellaro M, Emili S, Mesoraca A, Giorlandino C
INFETTIVOLOGIA
Mild Symptomatic SARS-CoV-2 P.1 (B.1.1.28) Infection in a Fully Vaccinated 83-Year-Old Man
Fabiani M, Margiotti K, Viola A, Mesoraca A, Giorlandino C
PREDISPOSIZIONE GENETICA
Multianalytical Test Based on Serum miRNAs and Proteins Quantification for Early Ovarian Cancer Detection
Cirillo P, Margiotti K, Fabiani M, Barros-Filho M, Sparacino D, Cima A, Cupellaro M, Mesoraca A, Giorlandino G
2020
PREDISPOSIZIONE GENETICA
Quantification of Circulating MicroRNAs by Droplet Digital PCR for Cancer Detection
Cirillo P, Margiotti K, Mesoraca A, Giorlandino C
DIAGNOSI PRENATALE E RIPRODUTTIVA
Cell-free DNA Screening for Sex Chromosomal Aneuploidies in 9985 Pregnancies: Italian Single Experience
Margiotti K, Cesta A, Dello Russo C, Cima A, Barone MA, Viola A, Sparacino D, Mesoraca A, Giorlandino C
NEUROGENETICA E MALATTIE RARE
Genetic Factors in Rotator Cuff Pathology: Potential Influence of COL5A1 Polymorphism in Outcomes of Rotator Cuff Repair
Petrillo S, Longo UG, Margiotti K, Candela V, Fusilli C, Rizzello G, De Luca A, Denaro V
DIAGNOSI PRENATALE E RIPRODUTTIVA
Cell-free DNA Screening for Aneuploidies in 7,113 Pregnancies: Single Italian Center Study
Petrillo S, Longo UG, Margiotti K, Candela V, Fusilli C, Rizzello G, De Luca A, Denaro V