Silver–Russell Syndrome Due to Paternal H19/IGF2 Hypomethylation in a Twin Girl Born After In Vitro Fertilization

por Cocchi, Guido, Marsico, Concetta, Cosentino, Anita, Spadoni, Chiara, Rocca, Alessandro, De Crescenzo, Agostina, Riccio, Andrea
Publicado 2013

Eating and Lifestyle Habits in Youth With Down Syndrome Attending a Care Program: An Exploratory Lesson for Future Improvements

por Roccatello, Giulia, Cocchi, Guido, Dimastromatteo, Rosa Tullia, Cavallo, Alessandra, Biserni, Giovanni Battista, Selicati, Mariella, Forchielli, Maria Luisa
Publicado 2021

Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells

por Pelleri, Maria Chiara, Cattani, Chiara, Vitale, Lorenza, Antonaros, Francesca, Strippoli, Pierluigi, Locatelli, Chiara, Cocchi, Guido, Piovesan, Allison, Caracausi, Maria
Publicado 2018

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

por Barresi, Vincenza, Ragusa, Angela, Fichera, Marco, Musso, Nicolò, Castiglia, Lucia, Rappazzo, Giancarlo, Travali, Salvatore, Mattina, Teresa, Romano, Corrado, Cocchi, Guido, Condorelli, Daniele F
Publicado 2010

Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

por Pelleri, Maria Chiara, Cicchini, Elena, Locatelli, Chiara, Vitale, Lorenza, Caracausi, Maria, Piovesan, Allison, Rocca, Alessandro, Poletti, Giulia, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido
Publicado 2016

MTHFR C677T polymorphism analysis: A simple, effective restriction enzyme‐based method improving previous protocols

por Antonaros, Francesca, Olivucci, Giulia, Cicchini, Elena, Ramacieri, Giuseppe, Pelleri, Maria Chiara, Vitale, Lorenza, Strippoli, Pierluigi, Locatelli, Chiara, Cocchi, Guido, Piovesan, Allison, Caracausi, Maria
Publicado 2019

Down Syndrome: how to communicate the diagnosis

por Gori, Caterina, Cocchi, Guido, Corvaglia, Luigi Tommaso, Ramacieri, Giuseppe, Pulina, Francesca, Sperti, Giacomo, Cagnazzo, Valeria, Catapano, Francesca, Strippoli, Pierluigi, Cordelli, Duccio Maria, Locatelli, Chiara
Publicado 2023

Emilia-Romagna Study on Pregnancy and Exposure to Antiepileptic drugs (ESPEA): a population-based study on prescription patterns, pregnancy outcomes and fetal health

por Mostacci, Barbara, Bisulli, Francesca, Poluzzi, Elisabetta, Cocchi, Guido, Piccinni, Carlo, Curti, Alessandra, Simonazzi, Giuliana, Astolfi, Gianni, Rizzo, Nicola, Zenesini, Corrado, D’Alessandro, Roberto, Tinuper, Paolo
Publicado 2018

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

por Pelleri, Maria Chiara, Cicchini, Elena, Petersen, Michael B., Tranebjærg, Lisbeth, Mattina, Teresa, Magini, Pamela, Antonaros, Francesca, Caracausi, Maria, Vitale, Lorenza, Locatelli, Chiara, Seri, Marco, Strippoli, Pierluigi, Piovesan, Allison, Cocchi, Guido
Publicado 2019

The transcriptome profile of human trisomy 21 blood cells

por Antonaros, Francesca, Zenatelli, Rossella, Guerri, Giulia, Bertelli, Matteo, Locatelli, Chiara, Vione, Beatrice, Catapano, Francesca, Gori, Alice, Vitale, Lorenza, Pelleri, Maria Chiara, Ramacieri, Giuseppe, Cocchi, Guido, Strippoli, Pierluigi, Caracausi, Maria, Piovesan, Allison
Publicado 2021

Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

por Pelleri, Maria Chiara, Locatelli, Chiara, Mattina, Teresa, Bonaglia, Maria Clara, Piazza, Francesca, Magini, Pamela, Antonaros, Francesca, Ramacieri, Giuseppe, Vione, Beatrice, Vitale, Lorenza, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido, Piovesan, Allison, Caracausi, Maria
Publicado 2022

Age-Related Changes of Adaptive and Neuropsychological Features in Persons with Down Syndrome

por Ghezzo, Alessandro, Salvioli, Stefano, Solimando, Maria Caterina, Palmieri, Alice, Chiostergi, Chiara, Scurti, Maria, Lomartire, Laura, Bedetti, Federica, Cocchi, Guido, Follo, Daniela, Pipitone, Emanuela, Rovatti, Paolo, Zamberletti, Jessica, Gomiero, Tiziano, Castellani, Gastone, Franceschi, Claudio
Publicado 2014

Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism

por Caracausi, Maria, Ghini, Veronica, Locatelli, Chiara, Mericio, Martina, Piovesan, Allison, Antonaros, Francesca, Pelleri, Maria Chiara, Vitale, Lorenza, Vacca, Rosa Anna, Bedetti, Federica, Mimmi, Maria Chiara, Luchinat, Claudio, Turano, Paola, Strippoli, Pierluigi, Cocchi, Guido
Publicado 2018

Analysis of a nanoparticle-enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesis

por Salvi, Alessandro, Vezzoli, Marika, Busatto, Sara, Paolini, Lucia, Faranda, Teresa, Abeni, Edoardo, Caracausi, Maria, Antonaros, Francesca, Piovesan, Allison, Locatelli, Chiara, Cocchi, Guido, Alvisi, Gualtiero, De Petro, Giuseppina, Ricotta, Doris, Bergese, Paolo, Radeghieri, Annalisa
Publicado 2019

Analysis of a nanoparticle-enriched fraction of plasma reveals miRNA candidates for Down syndrome pathogenesis

por Salvi, Alessandro, Vezzoli, Marika, Busatto, Sara, Paolini, Lucia, Faranda, Teresa, Abeni, Edoardo, Caracausi, Maria, Antonaros, Francesca, Piovesan, Allison, Locatelli, Chiara, Cocchi, Guido, Alvisi, Gualtiero, De Petro, Giuseppina, Ricotta, Doris, Bergese, Paolo, Radeghieri, Annalisa
Publicado 2019

One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage

por Vione, Beatrice, Ramacieri, Giuseppe, Zavaroni, Giacomo, Piano, Angela, La Rocca, Giorgia, Caracausi, Maria, Vitale, Lorenza, Piovesan, Allison, Gori, Caterina, Pirazzoli, Gian Luca, Strippoli, Pierluigi, Cocchi, Guido, Corvaglia, Luigi, Locatelli, Chiara, Pelleri, Maria Chiara, Antonaros, Francesca
Publicado 2022

A reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes

por Locatelli, Chiara, Onnivello, Sara, Gori, Caterina, Ramacieri, Giuseppe, Pulina, Francesca, Marcolin, Chiara, Vianello, Renzo, Vione, Beatrice, Caracausi, Maria, Pelleri, Maria Chiara, Vitale, Lorenza, Pirazzoli, Gian Luca, Cocchi, Guido, Corvaglia, Luigi, Strippoli, Pierluigi, Antonaros, Francesca, Piovesan, Allison, Lanfranchi, Silvia
Publicado 2022

Prevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study

por Ghirri, Paolo, Scaramuzzo, Rosa T, Bertelloni, Silvano, Pardi, Daniela, Celandroni, Amerigo, Cocchi, Guido, Danieli, Roberto, De Santis, Luisa, Di Stefano, Maria C, Gerola, Orietta, Giuffrè, Mario, Gragnani, Giuseppe S, Magnani, Cinzia, Meossi, Cristiano, Merusi, Ilaria, Sabatino, Giuseppe, Tumini, Stefano, Corsello, Giovanni, Boldrini, Antonio
Publicado 2009

Plasma metabolome and cognitive skills in Down syndrome

por Antonaros, Francesca, Ghini, Veronica, Pulina, Francesca, Ramacieri, Giuseppe, Cicchini, Elena, Mannini, Elisa, Martelli, Anna, Feliciello, Agnese, Lanfranchi, Silvia, Onnivello, Sara, Vianello, Renzo, Locatelli, Chiara, Cocchi, Guido, Pelleri, Maria Chiara, Vitale, Lorenza, Strippoli, Pierluigi, Luchinat, Claudio, Turano, Paola, Piovesan, Allison, Caracausi, Maria
Publicado 2020

One-carbon pathway and cognitive skills in children with Down syndrome

por Antonaros, Francesca, Lanfranchi, Silvia, Locatelli, Chiara, Martelli, Anna, Olivucci, Giulia, Cicchini, Elena, Carosi Diatricch, Ludovica, Mannini, Elisa, Vione, Beatrice, Feliciello, Agnese, Ramacieri, Giuseppe, Onnivello, Sara, Vianello, Renzo, Vitale, Lorenza, Pelleri, Maria Chiara, Strippoli, Pierluigi, Cocchi, Guido, Pulina, Francesca, Piovesan, Allison, Caracausi, Maria
Publicado 2021