Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment

por Larizza, Lidia, Cubellis, Maria Vittoria
Publicado 2023

Rothmund-Thomson syndrome

por Larizza, Lidia, Roversi, Gaia, Volpi, Ludovica
Publicado 2010

Update on the Cytogenetics and Molecular Genetics of Chordoma

por Larizza, Lidia, Mortini, Pietro, Riva, Paola
Publicado 2005

Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons

por Larizza, Lidia, Calzari, Luciano, Alari, Valentina, Russo, Silvia
Publicado 2021

Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein–Taybi Intellectual Disability Syndromes

por Larizza, Lidia, Alari, Valentina, Calzari, Luciano, Russo, Silvia
Publicado 2021

Multiple Localization of Endogenous MARK4L Protein in Human Glioma

por Magnani, Ivana, Novielli, Chiara, Bellini, Melissa, Roversi, Gaia, Bello, Lorenzo, Larizza, Lidia
Publicado 2009

Survey of medical genetic services in Italy: year 2011

por Giardino, Daniela, Mingarelli, Rita, Lauretti, Tiziana, Amoroso, Antonio, Larizza, Lidia, Dallapiccola, Bruno
Publicado 2016

A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor

por Colombo, Elisa A., Carra, Silvia, Fontana, Laura, Bresciani, Erica, Cotelli, Franco, Larizza, Lidia
Publicado 2015

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

por Masciadri, Maura, Ficcadenti, Anna, Milani, Donatella, Cogliati, Francesca, Divizia, Maria Teresa, Larizza, Lidia, Russo, Silvia
Publicado 2018

Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer pred...

por Roversi, Gaia, Colombo, Elisa Adele, Magnani, Ivana, Gervasini, Cristina, Maggiore, Giuseppe, Paradisi, Mauro, Larizza, Lidia
Publicado 2021

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome

por Catusi, Ilaria, Bonati, Maria Teresa, Mainini, Ester, Russo, Silvia, Orlandini, Eleonora, Larizza, Lidia, Recalcati, Maria Paola
Publicado 2020

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

por Peron, Angela, Catusi, Ilaria, Recalcati, Maria Paola, Calzari, Luciano, Larizza, Lidia, Vignoli, Aglaia, Canevini, Maria Paola
Publicado 2020

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

por Crippa, Milena, Rusconi, Daniela, Castronovo, Chiara, Bestetti, Ilaria, Russo, Silvia, Cereda, Anna, Selicorni, Angelo, Larizza, Lidia, Finelli, Palma
Publicado 2015

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

por Bestetti, Ilaria, Sironi, Alessandra, Catusi, Ilaria, Mariani, Milena, Giardino, Daniela, Manoukian, Siranoush, Milani, Donatella, Larizza, Lidia, Castronovo, Chiara, Finelli, Palma
Publicado 2018

Functional analysis of splicing mutations in exon 7 of NF1 gene

por Bottillo, Irene, De Luca, Alessandro, Schirinzi, Annalisa, Guida, Valentina, Torrente, Isabella, Calvieri, Stefano, Gervasini, Cristina, Larizza, Lidia, Pizzuti, Antonio, Dallapiccola, Bruno
Publicado 2007

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

por Crippa, Milena, Bestetti, Ilaria, Perotti, Mario, Castronovo, Chiara, Tabano, Silvia, Picinelli, Chiara, Grassi, Guido, Larizza, Lidia, Pincelli, Angela Ida, Finelli, Palma
Publicado 2014

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

por Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma
Publicado 2020

Case report: a typical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum

por Vimercati, Alessandro, Tannorella, Pierpaola, Orlandini, Eleonora, Calzari, Luciano, Moro, Mirella, Guzzetti, Sara, Selicorni, Angelo, Crippa, Milena, Larizza, Lidia, Bonati, Maria Teresa, Russo, Silvia
Publicado 2023

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

por Crippa, Milena, Malatesta, Paola, Bonati, Maria Teresa, Trapasso, Francesco, Fortunato, Francesco, Annesi, Grazia, Larizza, Lidia, Labate, Angelo, Finelli, Palma, Perrotti, Nicola, Gambardella, Antonio
Publicado 2020

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

por Calzari, Luciano, Barcella, Matteo, Alari, Valentina, Braga, Daniele, Muñoz-Viana, Rafael, Barlassina, Cristina, Finelli, Palma, Gervasini, Cristina, Barco, Angel, Russo, Silvia, Larizza, Lidia
Publicado 2020