RUSCONI, DANIELA

RUSCONI, DANIELA  

Dipartimento di Scienze della Salute  

Risultati 1 - 20 di 24 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autore(i) Tipo File Abstract
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 1-mar-2013 D. RusconiM. CrippaC. GervasiniL. LarizzaP. Finelli + Article (author) -
AHSP (Alpha Hemoglobin Stabilizing Protein) Gene Expression during Normal and ß-Thalassemic Erythroid Differentiation 1-gen-2006 L. RonzoniI.V. LibaniD. RusconiM.D. Cappellini + Article (author) -
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 25-nov-2012 C. GervasiniG. NegriP. ColapietroD. Rusconi..R. TenconiP. FinelliS. SpenaL. Larizza + Book Part (author) -
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 1-gen-2015 D. RusconiG. NegriP. ColapietroS. SpenaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 1-gen-2015 G. NegriD. MilaniP. ColapietroD. RusconiP. FinelliS. SpenaL. LarizzaC. Gervasini + Article (author) -
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion 1-giu-2011 D. RusconiL. LarizzaP. Finelli + 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. 1-gen-2015 C. CastronovoM. CrippaI. BestettiD. RusconiL. LarizzaP. Finelli + Article (author) -
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 25-set-2013 C. GervasiniD. RusconiP. ColapietroS. SpenaG. NegriD. MilaniP. FinelliL. Larizza + Book Part (author) -
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes 1-gen-2013 C. CastronovoE. ValtortaM. CrippaD. RusconiD. MilaniL. LarizzaP. Finelli + Article (author) -
Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture : cellular and molecular characterization 1-gen-2008 L. RonzoniD. RusconiLIBANI, ILARIA VITTORIAM.D. Cappellini. + Article (author) -
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 26-mar-2015 M. CrippaD. RusconiC. CastronovoI. BestettiL. LarizzaP. Finelli + 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 1-feb-2016 G. NegriD. MilaniP. ColapietroD. RusconiM. CrippaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome 1-feb-2014 C. CastronovoR. RossettiD. RusconiM.P. RecalcatiCACCIATORE, CHIARAP. InvernizziP. FinelliL. Persani + Article (author) -
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome 3-apr-2013 C. GervasiniJ. AzzolliniD. RusconiL. LarizzaP. Finelli + Article (author) -
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region 1-giu-2011 P. FinelliM. CrippaE. ValtortaC. CastronovoM. MasciadriM. RecalcatiD. RusconiL. Larizza + Article (author) -
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 1-gen-2015 S. SpenaD. MilaniD. RusconiG. NegriP. ColapietroL. LarizzaC. Gervasini + Article (author) -
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype 4-apr-2012 P. FinelliS. SirchiaM. MasciadriM. CrippaM. RecalcatiD. RusconiL. MontiL. Larizza + Article (author) -
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 8-giu-2013 G. NegriP. ColapietroD. RusconiD. MilaniL. ConsonniP. FinelliS. SpenaL. LarizzaC. Gervasini + Book Part (author) -
NSD1 intragenic deletion in a patient with Sotos/5q subtelomeric deletion syndrome combined phenotype without 5q35.3 deletion 1-gen-2009 D. RusconiC. GervasiniL. LarizzaP. Finelli + Article (author) -
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q 1-nov-2009 D. RusconiM. CrippaC. GervasiniA. CeredaL. LarizzaP.Finelli + Conference Object -