Pubblicazioni

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review

2024 - GENES

Orsini, Alessandro; Santangelo, Andrea; Carmignani, Alessandra; Camporeale, Anna; Massart, Francesco; Tyutyusheva, Nina; Peroni, Diego Giampietro; Foiadelli, Thomas; Ferretti, Alessandro; Toschi, Benedetta; Romano, Silvia; Bonuccelli, Alice

Networks as Biomarkers: Uses and Purposes

2023 - GENES

Alfano, Caterina; Farina, Lorenzo; Petti, Manuela

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism

2023 - GENES

Mastrangelo, Mario; Tolve, Manuela; Artiola, Cristiana; Bove, Rossella; Carducci, Claudia; Carducci, Carla; Angeloni, Antonio; Pisani, Francesco; Leuzzi, Vincenzo

Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes

2022 - GENES

Marucci, Antonella; Rutigliano, Irene; Fini, Grazia; Pezzilli, Serena; Menzaghi, Claudia; Di Paola, Rosa; Trischitta, Vincenzo

A Systematic Review of Genetic Polymorphisms Associated with Bipolar Disorder Comorbid to Substance Abuse

2022 - GENES

DE MARCO, Adriano; Scozia, Gabriele; Manfredi, Lucia; Conversi, David

From the outside to the inside: New insights on the main factors that guide seed dormancy and germination

2021 - GENES

Longo, C.; Holness, S.; De Angelis, V.; Lepri, A.; Occhigrossi, S.; Ruta, V.; Vittorioso, P.

Circulating microRNAs from the molecular mechanisms to clinical biomarkers. A focus on the clear cell renal cell carcinoma

2021 - GENES

Tito, Claudia; De Falco, Elena; Rosa, Paolo; Iaiza, Alessia; Fazi, Francesco; Petrozza, Vincenzo; Calogero, Antonella

Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency

2021 - GENES

Rossi, L.; Nardecchia, F.; Pierige, F.; Ventura, R.; Carducci, C.; Leuzzi, V.; Magnani, M.; Cabib, S.; Pascucci, T.

Cardiac defects and genetic syndromes: old uncertainties and new insights

2021 - GENES

Calcagni, G.; Pugnaloni, F.; Digilio, M. C.; Unolt, M.; Putotto, C.; Niceta, M.; Baban, A.; Sparascio, F. P.; Drago, F.; De Luca, A.; Tartaglia, M.; Marino, B.; Versacci, P.

Pathogenesis of ischemic stroke: role of epigenetic mechanisms

2020 - GENES

Stanzione, Rosita; Cotugno, Maria; Bianchi, Franca; Marchitti, Simona; Forte, Maurizio; Volpe, Massimo; Rubattu, Speranza

Reworking GWAS data to understand the role of nongenetic factors in MS etiopathogenesis

2020 - GENES

Mechelli, R.; Umeton, R.; Manfre, G.; Romano, S.; Buscarinu, M. C.; Rinaldi, V.; Bellucci, G.; Bigi, R.; Ferraldeschi, M.; Salvetti, M.; Ristori, G.

The role of number of copies, structure, behavior and copy number variations (CNV) of the Y chromosome in male infertility

2020 - GENES

Signore, Fabrizio; GulÃ¬a, Caterina; Votino, Raffaella; De Leo, Vincenzo; Zaami, Simona; Putignani, Lorenza; Gigli, Silvia; Santini, Edoardo; Bertacca, Luca; Porrello, Alessandro; Piergentili, Roberto

Ricerc@Sapienza

Pubblicazioni

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review

Networks as Biomarkers: Uses and Purposes

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism

Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes

A Systematic Review of Genetic Polymorphisms Associated with Bipolar Disorder Comorbid to Substance Abuse

From the outside to the inside: New insights on the main factors that guide seed dormancy and germination

Circulating microRNAs from the molecular mechanisms to clinical biomarkers. A focus on the clear cell renal cell carcinoma

Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency

Cardiac defects and genetic syndromes: old uncertainties and new insights

Pathogenesis of ischemic stroke: role of epigenetic mechanisms

Reworking GWAS data to understand the role of nongenetic factors in MS etiopathogenesis

The role of number of copies, structure, behavior and copy number variations (CNV) of the Y chromosome in male infertility

Advances in omic studies drive discoveries in the biology of anisakid nematodes

Centromeres under pressure: Evolutionary innovation in conflict with conserved function

Epigenetics as an Evolutionary Tool for Centromere Flexibility

Network-based approaches to explore complex biological systems towards network medicine

Repetitive fragile sites: Centromere satellite DNA as a source of genome instability in human diseases

Non-coding RNAs and endometrial cancer