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

Daniela Rusconi, Gloria Negri, Patrizia Colapietro, +20

Human Genetics

Molecular NeuroscienceRubinstein–taybi SyndromeDisease MechanismGenetic DisorderMendelian Disorder +7

Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture: Cellular and molecular characterization

Luisa Ronzoni, P. Bonara, Daniela Rusconi, +3

Blood Cells Molecules and Diseases

Peripheral Cd34+ CellsDevelopmental BiologyLymphocyte DevelopmentMedicineHematology +12

From Whole Gene Deletion to Point Mutations of<i>EP300</i>-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Gloria Negri, Pamela Magini, Donatella Milani, +13

Human Mutation

Rubinstein-taybi SyndromeGeneticsMotor DevelopmentGenetic EpidemiologyPathology +18

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations

Nicola Ticozzi, Cinzia Tiloca, Niccolò E. Mencacci, +10

Journal of Neurology

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisDisease-associated MutationsCerebrospinal FluidNeurological Disorder +5

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

Palma Finelli, Silvia Maria Sirchia, Maura Masciadri, +12

Molecular Cytogenetics

Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion

Daniela Rusconi, Emanuele Valtorta, Ornella Rodeschini, +6

Cancer Genetics

Whole Gene DeletionPituitary GlandSubcutaneous LipomaPathologyPituitary Disease +3

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

M. Crippa, Daniela Rusconi, Chiara Castronovo, +6

Molecular Cytogenetics

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, +10

BMC Medical Genetics

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes

Chiara Castronovo, Emanuele Valtorta, M. Crippa, +13

Molecular Cytogenetics

A novel mosaic <i>NSD1</i> intragenic deletion in a patient with an atypical phenotype

Chiara Castronovo, Daniela Rusconi, M. Crippa, +7

American Journal of Medical Genetics Part A