A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age

por Berti, Sabrina, Luppi, Elena, Seri, Marco, Zavatta, Guido
Publicado 2023

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Inte...

por Panza, Emanuele, Martinelli, Diego, Magini, Pamela, Dionisi Vici, Carlo, Seri, Marco
Publicado 2019

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature

por Vitale, Giovanni, Mattiaccio, Alessandro, Conti, Amalia, Turco, Laura, Seri, Marco, Piscaglia, Fabio, Morelli, Maria Cristina
Publicado 2022

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

por Panza, Emanuele, Marini, Monica, Pecci, Alessandro, Giacopelli, Francesca, Bozzi, Valeria, Seri, Marco, Balduini, Carlo, Ravazzolo, Roberto
Publicado 2008

AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

por Magi, Alberto, Giangregorio, Tania, Semeraro, Roberto, Carangelo, Giulia, Palombo, Flavia, Romeo, Giovanni, Seri, Marco, Pippucci, Tommaso
Publicado 2020

Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis

por Vitale, Giovanni, Mattiaccio, Alessandro, Conti, Amalia, Berardi, Sonia, Vero, Vittoria, Turco, Laura, Seri, Marco, Morelli, Maria Cristina
Publicado 2023

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC

por Barozzi, Serena, Di Buduo, Christian A., Marconi, Caterina, Bozzi, Valeria, Seri, Marco, Romano, Francesca, Balduini, Alessandra, Pecci, Alessandro
Publicado 2020

Exploration of Tools for the Interpretation of Human Non-Coding Variants

por Tabarini, Nicole, Biagi, Elena, Uva, Paolo, Iovino, Emanuela, Pippucci, Tommaso, Seri, Marco, Cavalli, Andrea, Ceccherini, Isabella, Rusmini, Marta, Viti, Federica
Publicado 2022

Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only

por Iovino, Emanuela, Scapoli, Luca, Palmieri, Annalisa, Sgarzani, Rossella, Nouri, Nayereh, Pellati, Agnese, Carinci, Francesco, Seri, Marco, Pippucci, Tommaso, Martinelli, Marcella
Publicado 2023

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

por Aoun, Manar, Passerini, Ilaria, Chiurazzi, Pietro, Karali, Marianthi, De Rienzo, Irene, Sartor, Giovanna, Murro, Vittoria, Filimonova, Natalia, Seri, Marco, Banfi, Sandro
Publicado 2021

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

por Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
Publicado 2013

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

Immune cytopenias as a continuum in inborn errors of immunity: An in‐depth clinical and immunological exploration

por Zama, Daniele, Conti, Francesca, Moratti, Mattia, Cantarini, Maria E., Facchini, Elena, Rivalta, Beatrice, Rondelli, Roberto, Prete, Arcangelo, Ferrari, Simona, Seri, Marco, Pession, Andrea
Publicado 2021

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

por Magini, Pamela, Marco‐Marin, Clara, Escamilla‐Honrubia, Juan M., Martinelli, Diego, Dionisi-Vici, Carlo, Faravelli, Francesca, Forzano, Francesca, Seri, Marco, Rubio, Vicente, Panza, Emanuele
Publicado 2019

5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

por Marconi, Caterina, Canobbio, Ilaria, Bozzi, Valeria, Pippucci, Tommaso, Simonetti, Giorgia, Melazzini, Federica, Angori, Silvia, Martinelli, Giovanni, Saglio, Giuseppe, Torti, Mauro, Pastan, Ira, Seri, Marco, Pecci, Alessandro
Publicado 2017

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation

por Faleschini, Michela, Papa, Nicole, Morel-Kopp, Marie-Christine, Marconi, Caterina, Giangregorio, Tania, Melazzini, Federica, Bozzi, Valeria, Seri, Marco, Noris, Patrizia, Pecci, Alessandro, Savoia, Anna, Bottega, Roberta
Publicado 2021

Messenger RNA processing is altered in autosomal dominant leukodystrophy(†)

por Bartoletti-Stella, Anna, Gasparini, Laura, Giacomini, Caterina, Corrado, Patrizia, Terlizzi, Rossana, Giorgio, Elisa, Magini, Pamela, Seri, Marco, Baruzzi, Agostino, Parchi, Piero, Brusco, Alfredo, Cortelli, Pietro, Capellari, Sabina
Publicado 2015

Messenger RNA processing is altered in autosomal dominant leukodystrophy

por Bartoletti-Stella, Anna, Gasparini, Laura, Giacomini, Caterina, Corrado, Patrizia, Terlizzi, Rossana, Giorgio, Elisa, Magini, Pamela, Seri, Marco, Baruzzi, Agostino, Parchi, Piero, Brusco, Alfredo, Cortelli, Pietro, Capellari, Sabina
Publicado 2017

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

por Morgan, Anna, Lenarduzzi, Stefania, Spedicati, Beatrice, Cattaruzzi, Elisabetta, Murru, Flora Maria, Pelliccione, Giulia, Mazzà, Daniela, Zollino, Marcella, Graziano, Claudio, Ambrosetti, Umberto, Seri, Marco, Faletra, Flavio, Girotto, Giorgia
Publicado 2020

Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report

por Isidori, Federica, Malvi, Deborah, Fittipaldi, Silvia, Forcato, Claudio, Bozzarelli, Isotta, Sala, Claudia, Raulli, Giovanni, D’Errico, Antonia, Fiorentino, Michelangelo, Seri, Marco, Krishnadath, Kausilia K., Bonora, Elena, Mattioli, Sandro
Publicado 2018