NEGRI, GLORIA

NEGRI, GLORIA  

Dipartimento di Scienze della Salute  

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Risultati 1 - 20 di 24 (tempo di esecuzione: 0.004 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation : correspondence 2017 G. NegriC. Gervasini + Article (author) -
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations 2016 E.A. ColomboL. VolpiG. NegriC. Gervasini + Article (author) -
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 2016 G. NegriD. MilaniP. ColapietroD. RusconiM. CrippaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms 2015 G. NegriE.A. ColomboL. FontanaC. GervasiniL. Larizza + Article (author) -
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 2015 G. NegriD. MilaniP. ColapietroD. RusconiP. FinelliS. SpenaL. LarizzaC. Gervasini + Article (author) -
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 2015 S. SpenaD. MilaniD. RusconiG. NegriP. ColapietroL. LarizzaC. Gervasini + Article (author) -
Potential impact of fetal genotype on maternal blood pressure during pregnancy : the example of EP300 2015 D. MilaniL. PezzaniG. NegriC. GervasiniS. Esposito Article (author) -
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 2015 D. RusconiG. NegriP. ColapietroS. SpenaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype 2014 E.A. ColomboL. FontanaG. RoversiG. NegriL. Larizza + Article (author) -
VIABLE PHENOTYPE ASSOCIATED WITH NOVEL MUTATIONS OF INTEGRIN 3, ENCODING A LAMININS RECEPTOR INVOLVED IN STRUCTURAL AND FUNCTIONAL ORGANIZATION OF LUNG, KIDNEY AND SKIN EPITHELIA 2014 E. ColomboG. NegriL. VolpiC. GervasiniL. Larizza + Book Part (author) -
EP300 (E1A binding protein p300) 2014 G. NegriC. Gervasini Multimedia Object (author) -
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 2013 G. NegriP. ColapietroD. RusconiD. MilaniL. ConsonniP. FinelliS. SpenaL. LarizzaC. Gervasini + Book Part (author) -
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 2013 C. GervasiniD. RusconiP. ColapietroS. SpenaG. NegriD. MilaniP. FinelliL. Larizza + Book Part (author) -
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 2013 G. NegriP. ColapietroD. RusconiD. MilaniL. ConsonniP. FinelliS. SpenaL. LarizzaC. Gervasini + Book Part (author) -
Clinical utility gene card for: poikiloderma with neutropenia 2013 L. LarizzaG. NegriE.A. ColomboL. Volpi + Article (author) -
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations 2012 E.A. ColomboG. NegriC.C.G. GervasiniL. VolpiL. Larizza + Article (author) -
SINDROME DI ROTHMUND-THOMSON: CARATTERIZZAZIONE CLINICO-MOLECOLARE DI TRE NUOVI PAZIENTI 2012 E.A. ColomboL. FontanaG. RoversiG. NegriL. Larizza + Book Part (author) -
ANALISI SEMIQUANTITATIVA DELL’ESPRESSIONE DELLE ISOFORME DEL GENE C16orf57 IN UN PANNELLO DI LINEE CELLULARI E TESSUTI ED IN PAZIENTI CON POICHILODERMA CON NEUTROPENIA 2012 L. FontanaG. NegriE.A. ColomboL. Larizza Book Part (author) -
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 2012 C. GervasiniG. NegriP. ColapietroD. Rusconi..R. TenconiP. FinelliS. SpenaL. Larizza + Book Part (author) -
NUOVE MUTAZIONI DEL GENE C16orf57 IN PAZIENTI AFFETTI DA POICHILODERMA CON NEUTROPENIA: ANALISI BIOINFORMATICA DELLA PROTEINA E PREDIZIONE DELL’EFFETTO DI TUTTE LE MUTAZIONI NOTE 2012 G. NegriE. ColomboC. GervasiniL. VolpiL. Larizza + Book Part (author) -