RUSCONI, DANIELA

RUSCONI, DANIELA  

Dipartimento di Scienze della Salute  

Mostra records
Risultati 1 - 20 di 23 (tempo di esecuzione: 0.004 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
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) -
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) -
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature. 2015 C. CastronovoM. CrippaI. BestettiD. RusconiL. LarizzaP. Finelli + Article (author) -
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 2015 M. CrippaD. RusconiC. CastronovoI. BestettiL. LarizzaP. Finelli + 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) -
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) -
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome 2014 C. CastronovoR. RossettiD. RusconiM.P. RecalcatiCACCIATORE, CHIARAP. InvernizziP. FinelliL. Persani + Article (author) -
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 2013 C. CastronovoE. ValtortaM. CrippaD. RusconiD. MilaniL. LarizzaP. Finelli + Article (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) -
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome 2013 C. GervasiniJ. AzzolliniD. RusconiL. LarizzaP. Finelli + Article (author) -
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 2013 D. RusconiM. CrippaC. GervasiniL. LarizzaP. Finelli + Article (author) -
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations 2013 N. TicozziC. TilocaN.E. MencacciC. MorelliA. DorettiD. RusconiC. ColombritaD. SangalliF. VerdeP. FinelliA. RattiV. Silani + Article (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) -
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype 2012 P. FinelliS. SirchiaM. MasciadriM. CrippaM. RecalcatiD. RusconiL. MontiL. Larizza + Article (author) -
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region 2011 P. FinelliM. CrippaE. ValtortaC. CastronovoM. MasciadriM. RecalcatiD. RusconiL. Larizza + Article (author) -
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion 2011 D. RusconiL. LarizzaP. Finelli + Article (author) -
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q 2009 D. RusconiM. CrippaC. GervasiniA. CeredaL. LarizzaP.Finelli + Conference Object -
Sindrome di Cornelia de Lange in un paziente portatore della Traslocazione t(5;15)(p13;q25.1): possibile effetto di posizione su NIPBL 2009 M. CrippaD. RusconiC. CastronovoM. MasciadriC. GervasiniL. LarizzaP. Finelli + Conference Object -