Daniela Rusconi

Milan, Italy

Last Updated: 09/26/2026

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Found 12 publications

Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement.

Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement.

Journal: Frontiers in cardiovascular medicine

Published: February 13, 2023

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

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

Journal: Human mutation

Published: July 08, 2015

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

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

Journal: Human genetics

Published: January 20, 2015

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

Journal: Molecular cytogenetics

Published: January 15, 2015

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Journal: Clinical genetics

Published: July 28, 2014

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Journal: Clinical genetics

Published: December 17, 2013

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome.

Journal: Human reproduction (Oxford, England)

Published: December 11, 2013

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.

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.

Journal: American journal of medical genetics. Part A

Published: December 11, 2013

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

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

Journal: Molecular cytogenetics

Published: August 08, 2013

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

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

Journal: BMC medical genetics

Published: June 08, 2012

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

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

Journal: Journal of neurology

Published: March 14, 2012

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

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

Journal: Molecular cytogenetics

Published: February 15, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026