Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

por Doddato, Gabriella, Fabbiani, Alessandra, Scandurra, Valeria, Canitano, Roberto, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado 2022

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

por Imperatore, Valentina, Mencarelli, Maria Antonietta, Fallerini, Chiara, Bianciardi, Laura, Ariani, Francesca, Furini, Simone, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa
Publicado 2016

RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

por Gelli, Elisa, Fallerini, Chiara, Valentino, Floriana, Giliberti, Annarita, Castiglione, Francesca, Laschi, Lucrezia, Palmieri, Maria, Fabbiani, Alessandra, Tita, Rossella, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado 2020

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

por Doddato, Gabriella, Fabbiani, Alessandra, Fallerini, Chiara, Bruttini, Mirella, Hadjistilianou, Theodora, Landi, Martino, Coradeschi, Caterina, Grosso, Salvatore, Tomasini, Barbara, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado 2021

Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype

por Doddato, Gabriella, Fabbiani, Alessandra, Fallerini, Chiara, Bruttini, Mirella, Hadjistilianou, Theodora, Landi, Martino, Coradeschi, Caterina, Grosso, Salvatore, Tomasini, Barbara, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado 2023

Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review

por Ronzoni, Luisa, Mureddu, Matteo, Malvestiti, Francesco, Moretti, Vittoria, Bianco, Cristiana, Periti, Giulia, Baldassarri, Margherita, Ariani, Francesca, Carrer, Anna, Pelusi, Serena, Renieri, Alessandra, Prati, Daniele, Valenti, Luca
Publicado 2023

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

por Serio, Viola Bianca, Palmieri, Maria, Innamorato, Simona, Loberti, Lorenzo, Fallerini, Chiara, Ariani, Francesca, Antolini, Enrica, Covarelli, Jasmine, Vaghi, Massimo, Frullanti, Elisa, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2023

Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine

por Baldassarri, Margherita, Fallerini, Chiara, Cetta, Francesco, Ghisalberti, Marco, Bellan, Cristiana, Furini, Simone, Spiga, Ottavia, Crispino, Sergio, Gotti, Giuseppe, Ariani, Francesca, Paladini, Piero, Renieri, Alessandra, Frullanti, Elisa
Publicado 2018

Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients

por Bruno, Lucia Pia, Doddato, Gabriella, Baldassarri, Margherita, Rizzo, Caterina Lo, Resciniti, Sara, Bruttini, Mirella, Mirjam, Lista, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Publicado 2022

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

por Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca
Publicado 2015

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder

por Privitera, Flavia, Trusso, Maria A., Valentino, Floriana, Doddato, Gabriella, Fallerini, Chiara, Brunelli, Giulia, D’Aurizio, Romina, Furini, Simone, Goracci, Arianna, Fagiolini, Andrea, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Publicado 2023

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

por Privitera, Flavia, Calonaci, Arianna, Doddato, Gabriella, Papa, Filomena Tiziana, Baldassarri, Margherita, Pinto, Anna Maria, Mari, Francesca, Longo, Ilaria, Caini, Mauro, Galimberti, Daniela, Hadjistilianou, Theodora, De Francesco, Sonia, Renieri, Alessandra, Ariani, Francesca
Publicado 2021

Investigation of modifier genes within copy number variations in Rett syndrome

por Artuso, Rosangela, Papa, Filomena Tiziana, Grillo, Elisa, Mucciolo, Mafalda, Yasui, Dag H., Dunaway, Keith W., Disciglio, Vittoria, Mencarelli, Maria Antonietta, Pollazzon, Marzia, Zappella, Michele, Hayek, Giuseppe, Mari, Francesca, Renieri, Alessandra, LaSalle, Janine M., Ariani, Francesca
Publicado 2011

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

por Signorini, Cinzia, Leoncini, Silvia, De Felice, Claudio, Pecorelli, Alessandra, Meloni, Ilaria, Ariani, Francesca, Mari, Francesca, Amabile, Sonia, Paccagnini, Eugenio, Gentile, Mariangela, Belmonte, Giuseppe, Zollo, Gloria, Valacchi, Giuseppe, Durand, Thierry, Galano, Jean-Marie, Ciccoli, Lucia, Renieri, Alessandra, Hayek, Joussef
Publicado 2014

Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

por Grillo, Elisa, Lo Rizzo, Caterina, Bianciardi, Laura, Bizzarri, Veronica, Baldassarri, Margherita, Spiga, Ottavia, Furini, Simone, De Felice, Claudio, Signorini, Cinzia, Leoncini, Silvia, Pecorelli, Alessandra, Ciccoli, Lucia, Mencarelli, Maria Antonietta, Hayek, Joussef, Meloni, Ilaria, Ariani, Francesca, Mari, Francesca, Renieri, Alessandra
Publicado 2013

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

por Gelli, Elisa, Colombo, Mara, Pinto, Anna Maria, De Vecchi, Giovanna, Foglia, Claudia, Amitrano, Sara, Morbidoni, Valeria, Imperatore, Valentina, Manoukian, Siranoush, Baldassarri, Margherita, Lo Rizzo, Caterina, Catania, Lorenza, Frullanti, Elisa, Tagliafico, Enrico, Cortesi, Laura, Spaggiari, Federica, Mencarelli, Maria Antonietta, Trevisson, Eva, Radice, Paolo, Renieri, Alessandra, Ariani, Francesca
Publicado 2019

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

por Valentino, Floriana, Bruno, Lucia Pia, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Resciniti, Sara, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Baldassarri, Margherita, Fabbiani, Alessandra, Lamacchia, Vittoria, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca
Publicado 2021

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

por Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Umair, Muhammad, Pinto, Anna Maria, Khan, Abid Ali, Khan, Alamzeb, Saima, Fabbiani, Alessandra, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Resciniti, Sara, Peña-Guerra, Karla A., Guzmán-Vega, Francisco J., Arold, Stefan T., Ariani, Francesca, Khan, Shahid Niaz
Publicado 2022

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

por Bruno, Lucia Pia, Doddato, Gabriella, Valentino, Floriana, Baldassarri, Margherita, Tita, Rossella, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Fabbiani, Alessandra, Lamacchia, Vittoria, Carrer, Anna, Caputo, Valentina, Granata, Stefania, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca
Publicado 2021

DNA Methylation in the Diagnosis of Monogenic Diseases

por Cerrato, Flavia, Sparago, Angela, Ariani, Francesca, Brugnoletti, Fulvia, Calzari, Luciano, Coppedè, Fabio, De Luca, Alessandro, Gervasini, Cristina, Giardina, Emiliano, Gurrieri, Fiorella, Lo Nigro, Cristiana, Merla, Giuseppe, Miozzo, Monica, Russo, Silvia, Sangiorgi, Eugenio, Sirchia, Silvia M, Squeo, Gabriella Maria, Tabano, Silvia, Tabolacci, Elisabetta, Torrente, Isabella, Genuardi, Maurizio, Neri, Giovanni, Riccio, Andrea
Publicado 2020