Genetic testing for autonomic dysfunction or dysautonomias

por Maltese, Paolo Enrico, Manara, Elena, Beccari, Tommaso, Dundar, Munis, Capodicasa, Natale, Bertelli, Matteo
Publicado 2020

FOXC2 Disease Mutations Identified in Lymphedema Distichiasis Patients Impair Transcriptional Activity and Cell Proliferation

por Tavian, Daniela, Missaglia, Sara, Michelini, Sandro, Maltese, Paolo Enrico, Manara, Elena, Mordente, Alvaro, Bertelli, Matteo
Publicado 2020

Potential role of microbiome in Chronic Fatigue Syndrome/Myalgic Encephalomyelits (CFS/ME)

por Lupo, Giuseppe Francesco Damiano, Rocchetti, Gabriele, Lucini, Luigi, Lorusso, Lorenzo, Manara, Elena, Bertelli, Matteo, Puglisi, Edoardo, Capelli, Enrica
Publicado 2021

Sudden unexplained death due to cardiac arrest

por Precone, Vincenza, Guerri, Giulia, Krasi, Geraldo, Lupi, Laura, Papa, Ilaria, Beccari, Tommaso, Maltese, Paolo Enrico, Manara, Elena, Bertelli, Matteo
Publicado 2019

Genetic analysis of intellectual disability and autism

por Chiurazzi, Pietro, Kiani, Aysha Karim, Miertus, Jan, Barati, Shila, Manara, Elena, Paolacci, Stefano, Stuppia, Liborio, Gurrieri, Fiorella, Bertelli, Matteo
Publicado 2020

Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment

por Paolacci, Stefano, Kiani, Aysha Karim, Manara, Elena, Beccari, Tommaso, Ceccarini, Maria Rachele, Stuppia, Liborio, Chiurazzi, Pietro, Dalla Ragione, Laura, Bertelli, Matteo
Publicado 2020

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

por Gatticchi, Leonardo, Vešelényiová, Dominika, Miertus, Jan, Enrico Maltese, Paolo, Manara, Elena, Costantini, Alisia, Benedetti, Sabrina, Ďurovčíková, Darina, Krajcovic, Juraj, Bertelli, Matteo
Publicado 2021

Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia

por Ergoren, Mahmut C., Eren, Erdal, Manara, Elena, Paolacci, Stefano, Tulay, Pinar, Sag, Sebnem O., Bertelli, Matteo, Mocan, Gamze, Temel, Sehime Gulsun
Publicado 2021

DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia

por Masetti, Riccardo, Togni, Marco, Astolfi, Annalisa, Pigazzi, Martina, Manara, Elena, Indio, Valentina, Rizzari, Carmelo, Rutella, Sergio, Basso, Giuseppe, Pession, Andrea, Locatelli, Franco
Publicado 2013

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations

por Paolacci, Stefano, Mattassi, Raul Ettore, Marceddu, Giuseppe, Manara, Elena, Zulian, Alessandra, Guerri, Giulia, De Antoni, Luca, Arduino, Carlo, Cavalca, Daniela, Bertelli, Matteo
Publicado 2020

Investigation on the role of biallelic variants in VEGF‐C found in a patient affected by Milroy‐like lymphedema

por Mukenge, Sylvain, Jha, Sawan K., Catena, Marco, Manara, Elena, Leppänen, Veli‐Matti, Lenti, Elisa, Negrini, Daniela, Bertelli, Matteo, Brendolan, Andrea, Jeltsch, Michael, Aldrighetti, Luca
Publicado 2020

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

por Cannarella, Rossella, Precone, Vincenza, Guerri, Giulia, Busetto, Gian Maria, Di Renzo, Gian Carlo, Gerli, Sandro, Manara, Elena, Dautaj, Astrit, Bertelli, Matteo, Calogero, Aldo Eugenio
Publicado 2020

Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing

por Togni, Marco, Masetti, Riccardo, Pigazzi, Martina, Astolfi, Annalisa, Zama, Daniele, Indio, Valentina, Serravalle, Salvatore, Manara, Elena, Bisio, Valeria, Rizzari, Carmelo, Basso, Giuseppe, Pession, Andrea, Locatelli, Franco
Publicado 2015

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

por Michelini, Sandro, Chiurazzi, Pietro, Marino, Valerio, Dell’Orco, Daniele, Manara, Elena, Baglivo, Mirko, Fiorentino, Alessandro, Maltese, Paolo Enrico, Pinelli, Michele, Herbst, Karen Louise, Dautaj, Astrit, Bertelli, Matteo
Publicado 2020

Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

por Iarossi, Giancarlo, Marino, Valerio, Maltese, Paolo Enrico, Colombo, Leonardo, D’Esposito, Fabiana, Manara, Elena, Dhuli, Kristjana, Modarelli, Antonio Mattia, Cennamo, Gilda, Magli, Adriano, Dell’Orco, Daniele, Bertelli, Matteo
Publicado 2020

Pilot study for the evaluation of safety profile of a potential inhibitor of SARS-CoV-2 endocytosis

por Paolacci, Stefano, Ceccarini, Maria Rachele, Codini, Michela, Manara, Elena, Tezzele, Silvia, Percio, Marcella, Capodicasa, Natale, Kroni, Dorela, Dundar, Munis, Ergoren, Mahmut C., Sanlidag, Tamer, Beccari, Tommaso, Farronato, Marco, Farronato, Giampietro, Tartaglia, Gianluca Martino, Bertelli, Matteo
Publicado 2020

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

por Manara, Elena, Paolacci, Stefano, D’Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Marta, Balzarini, Maltese, Paolo Enrico, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo
Publicado 2019

A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy

por Michelini, Sandro, Herbst, Karen L., Precone, Vincenza, Manara, Elena, Marceddu, Giuseppe, Dautaj, Astrit, Maltese, Paolo Enrico, Paolacci, Stefano, Ceccarini, Maria Rachele, Beccari, Tommaso, Sorrentino, Elisa, Aquilanti, Barbara, Velluti, Valeria, Matera, Giuseppina, Gagliardi, Lucilla, Miggiano, Giacinto Abele Donato, Bertelli, Matteo
Publicado 2022

A pilot study on the preventative potential of alpha-cyclodextrin and hydroxytyrosol against SARS-CoV-2 transmission

por Ergoren, Mahmut Cerkez, Paolacci, Stefano, Manara, Elena, Dautaj, Astrit, Dhuli, Kristjana, Anpilogov, Kyrylo, Camilleri, Giorgio, Suer, Huseyin Kaya, Sayan, Murat, Tuncel, Gulten, Sultanoglu, Nazife, Farronato, Marco, Tartaglia, Gianluca Martino, Dundar, Munis, Farronato, Giampietro, Gunsel, Irfan Suat, Bertelli, Matteo, Sanlidag, Tamer
Publicado 2020

Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema

por Michelini, Sandro, Amato, Bruno, Ricci, Maurizio, Kenanoglu, Sercan, Veselenyiova, Dominika, Kurti, Danjela, Baglivo, Mirko, Manara, Elena, Dundar, Munis, Krajcovic, Juraj, Basha, Syed Hussain, Priya, Sasi, Serrani, Roberta, Miggiano, Giacinto A. D., Aquilanti, Barbara, Matera, Giuseppina, Velluti, Valeria, Gagliardi, Lucilla, Dautaj, Astrit, Bertelli, Matteo
Publicado 2020