Francesca Rivieri

Affiliations

Medical Genetic Service, Santa Chiara Hospital, 38122 Trento, Italy.

Publications (6)

Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).

Diagnostics (Basel, Switzerland)

Avec: Gaetano Pietro Bulfamante , Laura Carpenito , Emma Bragantini , Silvia Graziani , Maria Bellizzi , Christoph Peter Bagowski , Moneef Shoukier , Francesca Rivieri , Massimo Soffiati , Mattia Barbareschi

A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.

European journal of medical genetics

Avec: Martino Montomoli , Annalisa Vetro , Flavia Tubili , Maria Alice Donati , Marta Daniotti , Francesca Pochiero , Francesca Rivieri , Salvatore Girlando , Renzo Guerrini

A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Archives of endocrinology and metabolism

Avec: Roberto Franceschi , Evelina Maines , Maria Bellizzi , Francesca Rivieri , Andrea Bacca , Alessandra Filippi , Enza Maria Valente , Massimo Plumari , Massimo Soffiati , Monica Vincenzi , Francesca Teofoli , Marta Camilot

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.

Journal of neurology

Avec: Lorenzo Nanetti , Elisa Sarto , Anna Castaldo , Stefania Magri , Alessia Mongelli , Davide Rossi Sebastiano , Laura Canafoglia , Marina Grisoli , Chiara Malaguti , Francesca Rivieri , Maria Chiara D'Amico , Daniela Di Bella , Silvana Franceschetti , Caterina Mariotti , Franco Taroni

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.

Epilepsy & behavior : E&B

Avec: Emilia Ricci , Anna Fetta , Livia Garavelli , Stefano Caraffi , Ivan Ivanovski , Paolo Bonanni , Patrizia Accorsi , Lucio Giordano , Chiara Pantaleoni , Antonino Romeo , Alessia Arena , Silvia Bonetti , Antonella Boni , Daniela Chiarello , Veronica Di Pisa , Roberta Epifanio , Francesca Faravelli , Erica Finardi , Agata Fiumara , Daniele Grioni , Isabella Mammi , Susanna Negrin , Elisa Osanni , Federico Raviglione , Francesca Rivieri , Romana Rizzi , Salvatore Savasta , Luigi Tarani , Nicoletta Zanotta , Auteur inconnu , Ada Dormi , Aglaia Vignoli , Mariapaola Canevini , Duccio M Cordelli

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report.

International journal of neonatal screening

Avec: Evelina Maines , Roberto Franceschi , Francesca Rivieri , Giovanni Piccoli , Björn Schulte , Jessica Hoffmann , Andrea Bordugo , Giulia Rodella , Francesca Teofoli , Monica Vincenzi , Massimo Soffiati , Marta Camilot

Réseau de co-auteurs

Massimo Soffiati 3 collaborations

Maria Bellizzi 2 collaborations

Roberto Franceschi 2 collaborations

Evelina Maines 2 collaborations

Monica Vincenzi 2 collaborations

Francesca Teofoli 2 collaborations

Marta Camilot 2 collaborations

Gaetano Pietro Bulfamante 1 collaboration

Laura Carpenito 1 collaboration

Emma Bragantini 1 collaboration

Silvia Graziani 1 collaboration

Christoph Peter Bagowski 1 collaboration

Moneef Shoukier 1 collaboration

Mattia Barbareschi 1 collaboration

Martino Montomoli 1 collaboration

Annalisa Vetro 1 collaboration

Flavia Tubili 1 collaboration

Maria Alice Donati 1 collaboration

Marta Daniotti 1 collaboration

Francesca Pochiero 1 collaboration

Salvatore Girlando 1 collaboration

Renzo Guerrini 1 collaboration

Andrea Bacca 1 collaboration

Alessandra Filippi 1 collaboration

Enza Maria Valente 1 collaboration

Massimo Plumari 1 collaboration

Lorenzo Nanetti 1 collaboration

Elisa Sarto 1 collaboration

Anna Castaldo 1 collaboration

Stefania Magri 1 collaboration

Alessia Mongelli 1 collaboration

Davide Rossi Sebastiano 1 collaboration

Laura Canafoglia 1 collaboration

Marina Grisoli 1 collaboration

Chiara Malaguti 1 collaboration

Maria Chiara D'Amico 1 collaboration

Daniela Di Bella 1 collaboration

Silvana Franceschetti 1 collaboration

Caterina Mariotti 1 collaboration

Franco Taroni 1 collaboration

Emilia Ricci 1 collaboration

Anna Fetta 1 collaboration

Livia Garavelli 1 collaboration

Stefano Caraffi 1 collaboration

Ivan Ivanovski 1 collaboration

Paolo Bonanni 1 collaboration

Patrizia Accorsi 1 collaboration

Lucio Giordano 1 collaboration

Chiara Pantaleoni 1 collaboration

Antonino Romeo 1 collaboration

Alessia Arena 1 collaboration

Silvia Bonetti 1 collaboration

Antonella Boni 1 collaboration

Daniela Chiarello 1 collaboration

Veronica Di Pisa 1 collaboration

Roberta Epifanio 1 collaboration

Francesca Faravelli 1 collaboration

Erica Finardi 1 collaboration

Agata Fiumara 1 collaboration

Daniele Grioni 1 collaboration

Isabella Mammi 1 collaboration

Susanna Negrin 1 collaboration

Elisa Osanni 1 collaboration

Federico Raviglione 1 collaboration

Romana Rizzi 1 collaboration

Salvatore Savasta 1 collaboration

Luigi Tarani 1 collaboration

Nicoletta Zanotta 1 collaboration

None None 1 collaboration

Ada Dormi 1 collaboration

Aglaia Vignoli 1 collaboration

Mariapaola Canevini 1 collaboration

Duccio M Cordelli 1 collaboration

Giovanni Piccoli 1 collaboration

Björn Schulte 1 collaboration

Jessica Hoffmann 1 collaboration

Andrea Bordugo 1 collaboration

Giulia Rodella 1 collaboration