Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype–Phenotype Correlations

por Delvecchio, Maurizio, Iacoviello, Matteo, Pantaleo, Antonino, Resta, Nicoletta
Publicado 2021

Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene

por Stella, Alessandro, Lastella, Patrizia, Viggiano, Luigi, Bagnulo, Rosanna, Resta, Nicoletta
Publicado 2022

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

por Lastella, Patrizia, Surdo, Nicoletta Concetta, Resta, Nicoletta, Guanti, Ginevra, Stella, Alessandro
Publicado 2006

Lateralized and Segmental Overgrowth in Children

por Mussa, Alessandro, Carli, Diana, Cardaropoli, Simona, Ferrero, Giovanni Battista, Resta, Nicoletta
Publicado 2021

Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations

por Rizzo, Francesca Maria, Palmirotta, Raffaele, Marzullo, Andrea, Resta, Nicoletta, Cives, Mauro, Tucci, Marco, Silvestris, Franco
Publicado 2016

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

por Zollino, Marcella, Ranieri, Carlotta, Grossi, Valentina, Leoni, Chiara, Lattante, Serena, Mazzà, Daniela, Simone, Cristiano, Resta, Nicoletta
Publicado 2019

Intraabdominal sporadic desmoid tumors and inflammation: an updated literature review and presentation and insights on pathogenesis of synchronous sporadic mesenteric desmoid tumor...

por Prete, Francesco, Rotelli, MariaTeresa, Stella, Alessandro, Calculli, Giovanna, Sgaramella, Lucia Ilaria, Amati, Antonio, Resta, Nicoletta, Testini, Mario, Gurrado, Angela
Publicado 2022

BRCAmut and “founder effect”: a prospective study in a single academic institution

por Loizzi, Vera, Cicinelli, Ettore, Santamaria, Francesco, Murgia, Ferdinando, Minicucci, Valentina, Resta, Leonardo, Resta, Nicoletta, Natalicchio, Maria Iole, Ranieri, Girolamo, Cormio, Gennaro
Publicado 2018

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4

por Delvecchio, Maurizio, Ortolani, Federica, Palumbo, Orazio, Aloi, Concetta, Salina, Alessandro, Susca, Francesco Claudio, Palumbo, Pietro, Carella, Massimo, Resta, Nicoletta, Piccinno, Elvira
Publicado 2021

A Rare Case of Severe Congenital RYR1-Associated Myopathy

por Laforgia, Nicola, Capozza, Manuela, De Cosmo, Lucrezia, Di Mauro, Antonio, Baldassarre, Maria Elisabetta, Mercadante, Francesca, Torella, Anna Laura, Nigro, Vincenzo, Resta, Nicoletta
Publicado 2018

The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations

por Laforgia, Nicola, Di Mauro, Antonio, Favia Guarnieri, Giovanna, Varvara, Dora, De Cosmo, Lucrezia, Panza, Raffaella, Capozza, Manuela, Baldassarre, Maria Elisabetta, Resta, Nicoletta
Publicado 2018

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

por Forde, Karina, Resta, Nicoletta, Ranieri, Carlotta, Rea, David, Kubassova, Olga, Hinton, Mark, Andrews, Katrina A., Semple, Robert, Irvine, Alan D., Dvorakova, Veronika
Publicado 2021

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

por Stella, Alessandro, Lastella, Patrizia, Loconte, Daria Carmela, Bukvic, Nenad, Varvara, Dora, Patruno, Margherita, Bagnulo, Rosanna, Lovaglio, Rosaura, Bartolomeo, Nicola, Serio, Gabriella, Resta, Nicoletta
Publicado 2018

Pro‐inflammatory cytokines as emerging molecular determinants in cardiolaminopathies

por Gerbino, Andrea, Forleo, Cinzia, Milano, Serena, Piccapane, Francesca, Procino, Giuseppe, Pepe, Martino, Piccolo, Mara, Guida, Piero, Resta, Nicoletta, Favale, Stefano, Svelto, Maria, Carmosino, Monica
Publicado 2021

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end

por Disciglio, Vittoria, Fasano, Candida, Cariola, Filomena, Forte, Giovanna, Grossi, Valentina, Sanese, Paola, Lepore Signorile, Martina, Resta, Nicoletta, Lotesoriere, Claudio, Stella, Alessandro, Lolli, Ivan, Simone, Cristiano
Publicado 2020

Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma

por Ruggieri, Simona, Tamma, Roberto, Resta, Nicoletta, Albano, Francesco, Coccaro, Nicoletta, Loconte, Daria, Annese, Tiziana, Errede, Mariella, Specchia, Giorgina, Senetta, Rebecca, Cassoni, Paola, Ribatti, Domenico, Nico, Beatrice
Publicado 2017

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

por Beltrami, Benedetta, Cerasani, Jacopo, Consales, Alessandra, Villa, Roberta, Resta, Nicoletta, Loconte, Daria Carmela, Boito, Simona, Caschera, Luca, Bassi, Laura, Colombo, Lorenzo, Iascone, Maria, Bedeschi, Maria Francesca
Publicado 2022

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

por Pierucci, Paola, Lenato, Gennaro M, Suppressa, Patrizia, Lastella, Patrizia, Triggiani, Vincenzo, Valerio, Raffaella, Comelli, Mario, Salvante, Daniela, Stella, Alessandro, Resta, Nicoletta, Logroscino, Giancarlo, Resta, Francesco, Sabbà, Carlo
Publicado 2012

Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report

por Santobuono, Vincenzo Ezio, Guaricci, Andrea Igoren, Carulli, Eugenio, Bozza, Nicola, Pepe, Martino, Ranauro, Alfredo, Ranieri, Carlotta, Carella, Maria Cristina, Loizzi, Francesco, Resta, Nicoletta, Favale, Stefano, Forleo, Cinzia
Publicado 2021

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i...

por Leone, Maria Pia, Palumbo, Pietro, Palumbo, Orazio, Di Muro, Ester, Chetta, Massimiliano, Laforgia, Nicola, Resta, Nicoletta, Stella, Alessandro, Castellana, Stefano, Mazza, Tommaso, Castori, Marco, Carella, Massimo, Bukvic, Nenad
Publicado 2020