Autoimmune hepatitis in genetic syndromes: A literature review

por Capra, Anna Paola, Chiara, Emanuele, Briuglia, Silvana
Publicado 2021

Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings

por Lybech, Line K. M., Calabró, Marco, Briuglia, Silvana, Drago, Antonio, Crisafulli, Concetta
Publicado 2021

Neurofibromatosis: New Clinical Challenges in the Era of COVID-19

por Ardizzone, Alessio, Capra, Anna Paola, Campolo, Michela, Filippone, Alessia, Esposito, Emanuela, Briuglia, Silvana
Publicado 2022

H1299R Variant in Factor V and Recurrent Pregnancy Loss: A Systematic Review and Meta-Analysis Protocol

por Ardizzone, Alessio, Capra, Anna Paola, Mondello, Stefania, Briuglia, Silvana, La Rosa, Maria Angela, Campolo, Michela, Esposito, Emanuela
Publicado 2022

A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss

por Capra, Anna Paola, Ardizzone, Alessio, Briuglia, Silvana, La Rosa, Maria Angela, Mondello, Stefania, Campolo, Michela, Esposito, Emanuela
Publicado 2022

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

por Capra, Anna Paola, La Rosa, Maria Angela, Briguori, Sara, Civa, Rosa, Passarelli, Chiara, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana
Publicado 2023

A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review

por Moschella, Antonino, Capra, Anna Paola, Corica, Domenico, Pepe, Giorgia, Di Tommaso, Silvia, Sallicandro, Ester, Wasniewska, Malgorzata G., Briuglia, Silvana, Aversa, Tommaso
Publicado 2023

Proteus syndrome: evaluation of the immunological profile

por Lougaris, Vassilios, Salpietro, Vincenzo, Cutrupi, Maricia, Baronio, Manuela, Moratto, Daniele, Pizzino, M. R., Mankad, Kshitij, Briuglia, Silvana, Salpietro, Carmelo, Plebani, Alessandro
Publicado 2016

Osteogenesis Imperfecta/Ehlers–Danlos Overlap Syndrome and Neuroblastoma—Case Report and Review of Literature

por Morabito, Letteria Anna, Allegri, Anna Elsa Maria, Capra, Anna Paola, Capasso, Mario, Capra, Valeria, Garaventa, Alberto, Maghnie, Mohamad, Briuglia, Silvana, Wasniewska, Malgorzata Gabriela
Publicado 2022

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

por Rojnueangnit, Kitiwan, Charalsawadi, Chariyawan, Thammachote, Weerin, Pradabmuksiri, Ariya, Tim‐Aroon, Thipwimol, Novelli, Antonio, Loddo, Sara, Briuglia, Silvana, Concetta, Cutrupi M., Wattanasirichaigoon, Duangrurdee, Jinawath, Natini
Publicado 2019

Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation

por Le Coz, Carole, Nolan, Brian E., Trofa, Melissa, Kamsheh, Alicia M., Khokha, Mustafa K., Lakhani, Saquib A., Novelli, Antonio, Zackai, Elaine H., Sullivan, Kathleen E., Briuglia, Silvana, Bhatti, Tricia R., Romberg, Neil
Publicado 2018

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

por Catusi, Ilaria, Garzo, Maria, Capra, Anna Paola, Briuglia, Silvana, Baldo, Chiara, Canevini, Maria Paola, Cantone, Rachele, Elia, Flaviana, Forzano, Francesca, Galesi, Ornella, Grosso, Enrico, Malacarne, Michela, Peron, Angela, Romano, Corrado, Saccani, Monica, Larizza, Lidia, Recalcati, Maria Paola
Publicado 2021

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

por Luppe, Johannes, Sticht, Heinrich, Lecoquierre, François, Goldenberg, Alice, Gorman, Kathleen M., Molloy, Ben, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana, Kuismin, Outi, Marcelis, Carlo, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Julia, Sophie, Lemke, Johannes R., Abou Jamra, Rami, Platzer, Konrad
Publicado 2022

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature

por Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Redaelli, Serena, Massimello, Marta, Maitz, Silvia Beatrice, Gentile, Mattia, Ponzi, Emanuela, Orsini, Paola, Zilio, Anna, Montaldi, Annamaria, Calò, Annapaola, Capra, Anna Paola, Briuglia, Silvana, La Rosa, Maria Angela, Grillo, Lucia, Romano, Corrado, Bianca, Sebastiano, Malacarne, Michela, Busè, Martina, Piccione, Maria, Larizza, Lidia
Publicado 2022

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

por Guida, Valentina, Calzari, Luciano, Fadda, Maria Teresa, Piceci-Sparascio, Francesca, Digilio, Maria Cristina, Bernardini, Laura, Brancati, Francesco, Mattina, Teresa, Melis, Daniela, Forzano, Francesca, Briuglia, Silvana, Mazza, Tommaso, Bianca, Sebastiano, Valente, Enza Maria, Salehi, Leila Bagherjad, Prontera, Paolo, Pagnoni, Mario, Tenconi, Romano, Dallapiccola, Bruno, Iannetti, Giorgio, Corsaro, Luigi, De Luca, Alessandro, Gentilini, Davide
Publicado 2021