skip to main content
Lingue:

Risutati 1 - 10 di 43  per Ricerca globale

Risultati 1 2 3 4 5 next page
Mostra solo
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Colombo, Elisa A ; Bazan, J Fernando ; Negri, Gloria ; Gervasini, Cristina ; Elcioglu, Nursel H ; Yucelten, Deniz ; Altunay, Ilknur ; Cetincelik, Umram ; Teti, Anna ; Del Fattore, Andrea ; Luciani, Matteo ; Sullivan, Spencer K ; Yan, Albert C ; Volpi, Ludovica ; Larizza, Lidia

Orphanet journal of rare diseases, 2012-01-23, Vol.7 (1), p.7-7 [Rivista Peer Reviewed]

Fulltext disponibile

2
Further evidence supporting the influence of brain-derived neurotrophic factor on the outcome of bipolar depression: independent effect of brain-derived neurotrophic factor and harm avoidance
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Further evidence supporting the influence of brain-derived neurotrophic factor on the outcome of bipolar depression: independent effect of brain-derived neurotrophic factor and harm avoidance

Mandelli, Laura ; Mazza, Marianna ; Martinotti, Giovanni ; Tavian, Daniela ; Colombo, Elisa ; Missaglia, Sara ; Di Nicola, Marco ; De Ronchi, Diana ; Negri, Gloria ; Colombo, Roberto ; Janiri, Luigi ; Serretti, Alessandro

Journal of psychopharmacology (Oxford), 2010-12, Vol.24 (12), p.1747-1754 [Rivista Peer Reviewed]

Fulltext disponibile

3
From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Negri, Gloria ; Magini, Pamela ; Milani, Donatella ; Colapietro, Patrizia ; Rusconi, Daniela ; Scarano, Emanuela ; Bonati, Maria Teresa ; Priolo, Manuela ; Crippa, Milena ; Mazzanti, Laura ; Wischmeijer, Anita ; Tamburrino, Federica ; Pippucci, Tommaso ; Finelli, Palma ; Larizza, Lidia ; Gervasini, Cristina

Human mutation, 2016-02, Vol.37 (2), p.175-183 [Rivista Peer Reviewed]

Fulltext disponibile

4
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

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 ; Pippucci, Tommaso ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2019-02-26, Vol.138 (3), p.257-269 [Rivista Peer Reviewed]

Fulltext disponibile

5
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence

Negri, Gloria ; Negri, Gloria ; Larizza, Lidia ; Larizza, Lidia ; Gervasini, Cristina ; Gervasini, Cristina

Indian journal of pediatrics, 2017-01, Vol.84 (1), p.91-92 [Rivista Peer Reviewed]

Fulltext disponibile

6
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Rusconi, Daniela ; Negri, Gloria ; Colapietro, Patrizia ; Picinelli, Chiara ; Milani, Donatella ; Spena, Silvia ; Magnani, Cinzia ; Silengo, Margherita Cirillo ; Sorasio, Lorena ; Curtisova, Vaclava ; Cavaliere, Maria Luigia ; Prontera, Paolo ; Stangoni, Gabriela ; Ferrero, Giovanni Battista ; Biamino, Elisa ; Fischetto, Rita ; Piccione, Maria ; Gasparini, Paolo ; Salviati, Leonardo ; Selicorni, Angelo ; Finelli, Palma ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2015-03-25, Vol.134 (6), p.613-626 [Rivista Peer Reviewed]

Fulltext disponibile

7
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

Colombo, Elisa Adele ; Spaccini, Luigina ; Volpi, Ludovica ; Negri, Gloria ; Cittaro, Davide ; Lazarevic, Dejan ; Zirpoli, Salvatore ; Farolfi, Andrea ; Gervasini, Cristina ; Cubellis, Maria Vittoria ; Larizza, Lidia

Orphanet journal of rare diseases, 2016-10-07, Vol.11 (1), p.136-136 [Rivista Peer Reviewed]

Fulltext disponibile

8
Potential impact of fetal genotype on maternal blood pressure during pregnancy: the example of EP300
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Potential impact of fetal genotype on maternal blood pressure during pregnancy: the example of EP300

Milani, Donatella ; Pezzani, Lidia ; Negri, Gloria ; Gervasini, Cristina ; Esposito, Susanna

Journal of hypertension, 2015-03, Vol.33 (3), p.664-665 [Rivista Peer Reviewed]

Fulltext disponibile

9
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms

Negri, Gloria ; Crescenzi, Barbara ; Colombo, Elisa Adele ; Fontana, Laura ; Barba, Gianluca ; Arcioni, Francesco ; Gervasini, Cristina ; Mecucci, Cristina ; Larizza, Lidia

British journal of haematology, 2015-11, Vol.171 (4), p.557-565 [Rivista Peer Reviewed]

Fulltext disponibile

10
Expanding the role of the splicingUSB1gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms
Material Type:
Articolo
Aggiungi allo Scaffale Elettronico

Expanding the role of the splicingUSB1gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms

Negri, Gloria ; Crescenzi, Barbara ; Colombo, Elisa Adele ; Fontana, Laura ; Barba, Gianluca ; Arcioni, Francesco ; Gervasini, Cristina ; Mecucci, Cristina ; Larizza, Lidia

British journal of haematology, 2015-11, Vol.171 (4), p.557-565 [Rivista Peer Reviewed]

Fulltext disponibile

Risutati 1 - 10 di 43  per Ricerca globale

Risultati 1 2 3 4 5 next page

Ricerca in corso nelle risorse remote ...