OpenURL Connection Search

Select item for more details and to access through your institution.

Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein–Taybi Syndrome.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3621, doi. 10.3390/ijms22073621
By:
- Di Fede, Elisabetta;
- Ottaviano, Emerenziana;
- Grazioli, Paolo;
- Ceccarani, Camilla;
- Galeone, Antonio;
- Parodi, Chiara;
- Colombo, Elisa Adele;
- Bassanini, Giulia;
- Fazio, Grazia;
- Severgnini, Marco;
- Milani, Donatella;
- Verduci, Elvira;
- Vaccari, Thomas;
- Massa, Valentina;
- Borghi, Elisa;
- Gervasini, Cristina;
- Aminov, Rustam
Publication type:
Article
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 747, doi. 10.1007/s00439-024-02675-0
By:
- Di Fede, Elisabetta;
- Lettieri, Antonella;
- Taci, Esi;
- Castiglioni, Silvia;
- Rebellato, Stefano;
- Parodi, Chiara;
- Colombo, Elisa Adele;
- Grazioli, Paolo;
- Natacci, Federica;
- Marchisio, Paola;
- Pezzani, Lidia;
- Fazio, Grazia;
- Milani, Donatella;
- Massa, Valentina;
- Gervasini, Cristina
Publication type:
Article
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2129, doi. 10.1002/ajmg.a.62719
By:
- Saettini, Francesco;
- Fazio, Grazia;
- Bonati, Maria Teresa;
- Moratto, Daniele;
- Massa, Valentina;
- Di Fede, Elisabetta;
- Castiglioni, Silvia;
- Marchetti, Daniela;
- Chiarini, Marco;
- Sottini, Alessandra;
- Iascone, Maria;
- Cazzaniga, Giovanni;
- Imberti, Luisa;
- Biondi, Andrea;
- Gervasini, Cristina;
- Badolato, Raffaele
Publication type:
Article
SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2238, doi. 10.1002/ajmg.a.62203
By:
- Di Fede, Elisabetta;
- Peron, Angela;
- Colombo, Elisa Adele;
- Gervasini, Cristina;
- Vignoli, Aglaia
Publication type:
Article
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Published in:
Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
By:
- Negri, Gloria;
- Magini, Pamela;
- Milani, Donatella;
- Crippa, Milena;
- Biamino, Elisa;
- Piccione, Maria;
- Sotgiu, Stefano;
- Perrìa, Chiara;
- Vitiello, Giuseppina;
- Frontali, Marina;
- Boni, Antonella;
- Di Fede, Elisabetta;
- Gandini, Maria Chiara;
- Colombo, Elisa Adele;
- Bamshad, Michael J.;
- Nickerson, Deborah A.;
- Smith, Joshua D.;
- Loddo, Italia;
- Finelli, Palma;
- Seri, Marco
Publication type:
Article
Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management.
Published in:
Birth Defects Research, 2024, v. 116, n. 7, p. 1, doi. 10.1002/bdr2.2383
By:
- Avagliano, Laura;
- Castiglioni, Silvia;
- Lettieri, Antonella;
- Parodi, Chiara;
- Di Fede, Elisabetta;
- Taci, Esi;
- Grazioli, Paolo;
- Colombo, Elisa Adele;
- Gervasini, Cristina;
- Massa, Valentina
Publication type:
Article
Chromatinopathies: A focus on Cornelia de Lange syndrome.
Published in:
Clinical Genetics, 2020, v. 97, n. 1, p. 3, doi. 10.1111/cge.13674
By:
- Avagliano, Laura;
- Parenti, Ilaria;
- Grazioli, Paolo;
- Di Fede, Elisabetta;
- Parodi, Chiara;
- Mariani, Milena;
- Kaiser, Frank J.;
- Selicorni, Angelo;
- Gervasini, Cristina;
- Massa, Valentina
Publication type:
Article
Front Cover.
Published in:
Clinical Genetics, 2020, v. 97, n. 1, p. i, doi. 10.1111/cge.13684
By:
- Avagliano, Laura;
- Parenti, Ilaria;
- Grazioli, Paolo;
- Di Fede, Elisabetta;
- Parodi, Chiara;
- Mariani, Milena;
- Kaiser, Frank J.;
- Selicorni, Angelo;
- Gervasini, Cristina;
- Massa, Valentina
Publication type:
Article
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
Published in:
Journal of Clinical Immunology, 2018, v. 38, n. 4, p. 494, doi. 10.1007/s10875-018-0508-9
By:
- Colombo, Elisa A.;
- Elcioglu, Nursel H.;
- Graziano, Claudio;
- Farinelli, Pamela;
- Di Fede, Elisabetta;
- Neri, Iria;
- Facchini, Elena;
- Greco, Mariangela;
- Gervasini, Cristina;
- Larizza, Lidia
Publication type:
Article
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.
Published in:
Cell Death Discovery, 2021, v. 7, n. 1, p. 1, doi. 10.1038/s41420-021-00414-2
By:
- Grazioli, Paolo;
- Parodi, Chiara;
- Mariani, Milena;
- Bottai, Daniele;
- Di Fede, Elisabetta;
- Zulueta, Aida;
- Avagliano, Laura;
- Cereda, Anna;
- Tenconi, Romano;
- Wierzba, Jolanta;
- Adami, Raffaella;
- Iascone, Maria;
- Ajmone, Paola Francesca;
- Vaccari, Thomas;
- Gervasini, Cristina;
- Selicorni, Angelo;
- Massa, Valentina
Publication type:
Article
KMT2A : Umbrella Gene for Multiple Diseases.
Published in:
Genes, 2022, v. 13, n. 3, p. 514, doi. 10.3390/genes13030514
By:
- Castiglioni, Silvia;
- Di Fede, Elisabetta;
- Bernardelli, Clara;
- Lettieri, Antonella;
- Parodi, Chiara;
- Grazioli, Paolo;
- Colombo, Elisa Adele;
- Ancona, Silvia;
- Milani, Donatella;
- Ottaviano, Emerenziana;
- Borghi, Elisa;
- Massa, Valentina;
- Ghelma, Filippo;
- Vignoli, Aglaia;
- Lesma, Elena;
- Gervasini, Cristina
Publication type:
Article
Saliva detection of SARS-CoV-2 for mitigating company outbreaks: a surveillance experience, Milan, Italy, March 2021.
Published in:
2021
By:
- Ottaviano, Emerenziana;
- Parodi, Chiara;
- Borghi, Elisa;
- Massa, Valentina;
- Gervasini, Cristina;
- Centanni, Stefano;
- Zuccotti, Gianvincenzo;
- LollipopStudy Group;
- Ancona, Silvia;
- Colombo, Elisa Adele;
- Di Fede, Elisabetta;
- Grazioli, Paolo;
- Lesma, Elena;
- Lettieri, Antonella;
- Bianchi, Silvia
Publication type:
journal article

Found: 12