Publications by authors named "Maria P Leone"

Claim this Profile
V
Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.
Marco Castori, Sandra Mastroianno, Andrea Fontana, Silvia Morlino, Grazia Nardella, Maria Pia Leone

J Hum Genet· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
Lucia Micale, Aikaterini Vourlia, Carmela Fusco, Riccardo Pracella, Dimitrios-Christoforos Karagiannis, Maria Pia Leone

Eur J Hum Genet· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.
Silvia Morlino, Lorenzo Vaccaro, Maria Pia Leone, Grazia Nardella, Luigi Bisceglia

J Hum Genet· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Maria Pia Leone, Silvia Morlino, Grazia Nardella, Riccardo Pracella, Daniela Giachino

Hum Genet· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Compound Heterozygosity for Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.
Rocco Pio Ortore, Maria Pia Leone, Orazio Palumbo, Antonio Petracca, Eleonora M C Trecca

Audiol Res· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Phenotypic Variability of a Pathogenic Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.
Maria Pia Leone, Pietro Palumbo, Johan Saenen, Sandra Mastroianno, Stefano Castellana

Front Cardiovasc Med· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.
Stefano Castellana, Sandra Mastroianno, Pietro Palumbo, Orazio Palumbo, Tommaso Biagini, Maria Pia Leone

J Electrocardiol· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Sandra Mastroianno, Pietro Palumbo, Stefano Castellana, Maria Pia Leone, Raimondo Massaro

Ann Noninvasive Electrocardiol· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta

Ital J Pediatr· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma.
Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone

Int J Endocrinol· April 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Compound Phenotype Due to Recessive Variants in and Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Ester di Muro, Stefano Castellana

Genes (Basel)· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Na 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.
Giuseppe Di Stolfo, Pietro Palumbo, Stefano Castellana, Sandra Mastroianno, Tommaso Biagini, Maria Pia Leone

J Electrocardiol· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.
Giuseppe Di Stolfo, Maria Accadia, Sandra Mastroianno, Maria P Leone, Orazio Palumbo

Mol Genet Genomic Med· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.
Marco Castori, Claus-Eric Ott, Luigi Bisceglia, Maria Pia Leone, Tommaso Mazza

Am J Med Genet A· September 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
Orazio Palumbo, Maria Accadia, Pietro Palumbo, Maria Pia Leone, Antonio Scorrano

Eur J Med Genet· May 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Pietro Palumbo, Maria Accadia, Maria P Leone, Teresa Palladino, Raffaella Stallone

Am J Med Genet A· February 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone

Am J Med Genet A· July 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
Maria Pia Leone, Pietro Palumbo, Rocco Ortore, Stefano Castellana, Orazio Palumbo

Mol Cell Probes· June 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature.
Orazio Palumbo, Pietro Palumbo, Maria P Leone, Raffaella Stallone, Teresa Palladino

Mol Syndromol· October 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical and molecular characterization of a de novo 19p13.3 microdeletion.
Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Raffaella Stallone, Teresa Palladino

Mol Cytogenet· May 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.
Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Raffaella Stallone, Teresa Palladino

Am J Med Genet A· September 2015

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
Piero Stratta, Guido Merlotti, Claudio Musetti, Marco Quaglia, Alessia Pagani, Maria Pia Leone

Nephrol Dial Transplant· October 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis