Maria E. Sana

Bergamo, Italy

Last Updated: 09/26/2026

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Found 12 publications

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.

Journal: PloS one

Published: July 14, 2016

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Journal: American journal of medical genetics. Part A

Published: April 15, 2016

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.

Journal: Clinical and experimental dermatology

Published: September 16, 2015

Pluripotent stem cell miRNAs and metastasis in invasive breast cancer.

Pluripotent stem cell miRNAs and metastasis in invasive breast cancer.

Journal: Journal of the National Cancer Institute

Published: October 13, 2014

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

Journal: Circulation. Cardiovascular genetics

Published: September 01, 2014

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Journal: American journal of medical genetics. Part A

Published: July 18, 2014

A large scale expression study associates uc.283-plus lncRNA with pluripotent stem cells and human glioma.

A large scale expression study associates uc.283-plus lncRNA with pluripotent stem cells and human glioma.

Journal: Genome medicine

Published: June 14, 2014

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.

Journal: American journal of medical genetics. Part A

Published: December 03, 2013

Letter by Iascone et al regarding article, "Population-based variation in cardiomyopathy genes".

Letter by Iascone et al regarding article, "Population-based variation in cardiomyopathy genes".

Journal: Circulation. Cardiovascular genetics

Published: December 20, 2012

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

Journal: Circulation

Published: December 06, 2012

A new mutational mechanism for hypertrophic cardiomyopathy.

A new mutational mechanism for hypertrophic cardiomyopathy.

Journal: Gene

Published: February 17, 2012

Breast cancer signatures for invasiveness and prognosis defined by deep sequencing of microRNA.

Breast cancer signatures for invasiveness and prognosis defined by deep sequencing of microRNA.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: February 09, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026