Publications by authors named "Daniela Rusconi"

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Case Report: A rare homozygous patient affected by systemic amyloidosis with a prominent heart involvement.
Emanuele Micaglio, Gloria Santangelo, Silvia Moscardelli, Daniela Rusconi, Francesco Musca

Front Cardiovasc Med· August 2023

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From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Gloria Negri, Pamela Magini, Donatella Milani, Patrizia Colapietro, Daniela Rusconi

Hum Mutat· February 2016

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Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Daniela Rusconi, Gloria Negri, Patrizia Colapietro, Chiara Picinelli, Donatella Milani

Hum Genet· June 2015

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Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
Milena Crippa, Daniela Rusconi, Chiara Castronovo, Ilaria Bestetti, Silvia Russo

Mol Cytogenet· April 2015

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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.
Chiara Castronovo, Milena Crippa, Ilaria Bestetti, Daniela Rusconi, Silvia Russo

Am J Med Genet A· January 2015

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Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.
Chiara Castronovo, Raffaella Rossetti, Daniela Rusconi, Maria P Recalcati, Chiara Cacciatore

Hum Reprod· February 2014

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Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
Chiara Castronovo, Emanuele Valtorta, Milena Crippa, Sara Tedoldi, Lorenza Romitti, Daniela Rusconi

Mol Cytogenet· October 2013

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Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.
Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri

BMC Med Genet· April 2013

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A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
Chiara Castronovo, Daniela Rusconi, Milena Crippa, Daniela Giardino, Cristina Gervasini

Am J Med Genet A· March 2013

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Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.
Nicola Ticozzi, Cinzia Tiloca, Niccolò E Mencacci, Claudia Morelli, Alberto Doretti, Daniela Rusconi

J Neurol· January 2013

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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, Milena Crippa, Maria Paola Recalcati, Daniela Rusconi

Mol Cytogenet· April 2012

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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, Daniela Giardino, Iughetti Lorenzo

Cancer Genet· June 2011

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SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.
Marcello Frigerio, Elena Passeri, Tiziana de Filippis, Daniela Rusconi, Rea Valaperta

BMC Med Genet· May 2011

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Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture: cellular and molecular characterization.
Luisa Ronzoni, Paola Bonara, Daniela Rusconi, Cecilia Frugoni, Ilaria Libani

Blood Cells Mol Dis· May 2008

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