Publications by authors named "Maria Accadia"

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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Gioia Mastromoro, Claudia Santoro, Marialetizia Motta, Ugo Sorrentino, Paola Daniele, Maria Accadia

Genet Med· November 2024

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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K M Russel, Kathleen Rooney, Maria Accadia

Hum Genet· June 2024

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Narcissistic Personality Disorder as Prodromal Feature of Early-Onset, GRN-Positive bvFTD: A Case Report.
Marco Michelutti, Daniele Urso, Valentina Gnoni, Alessia Giugno, Chiara Zecca, Maria Accadia

J Alzheimers Dis· March 2024

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Stress Echocardiography in Italian Echocardiographic Laboratories: A Survey of the Italian Society of Echocardiography and Cardiovascular Imaging.
Quirino Ciampi, Mauro Pepi, Francesco Antonini-Canterin, Andrea Barbieri, Agata Barchitta, Maria Accadia

J Cardiovasc Echogr· November 2023

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Organization and Activity of Italian Echocardiographic Laboratories: A Survey of the Italian Society of Echocardiography and Cardiovascular Imaging.
Quirino Ciampi, Mauro Pepi, Francesco Antonini-Canterin, Andrea Barbieri, Agata Barchitta, Maria Accadia

J Cardiovasc Echogr· May 2023

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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Maria Accadia

J Med Genet· February 2023

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Behavioral profiling in children and adolescents with Malan syndrome.
Paolo Alfieri, Federica Alice Maria Montanaro, Marina Macchiaiolo, Martina Collotta, Cristina Caciolo, Maria Accadia

Front Child Adolesc Psychiatry· February 2023

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Case report: Functional characterization of a novel intronic variant in patients with CHARGE syndrome.
Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Simona Ferrari, Maria Accadia

Front Genet· February 2023

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Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Paolo Alfieri, Marina Macchiaiolo, Martina Collotta, Federica Alice Maria Montanaro, Cristina Caciolo, Maria Accadia

J Clin Med· July 2022

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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Marina Macchiaiolo, Filippo M Panfili, Davide Vecchio, Michaela V Gonfiantini, Fabiana Cortellessa, Maria Accadia

Orphanet J Rare Dis· June 2022

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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Laura Pignata, Francesco Cecere, Ankit Verma, Bruno Hay Mele, Maria Monticelli, Maria Accadia

Clin Epigenetics· May 2022

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DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.
Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, Michael A Levy, Maria Rosaria Piemontese, Maria Accadia

Genet Med· January 2022

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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Maria Accadia

Hum Mol Genet· August 2021

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Novel Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Ester Di Muro, Pietro Palumbo, Mario Benvenuto, Maria Accadia, Marilena Carmela Di Giacomo

Genes (Basel)· July 2021

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Whole Exome Sequencing Reveals a Novel In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies.
Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo

Genes (Basel)· February 2021

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Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Gabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, Donatella Milani, Elisa Adele Colombo, Maria Accadia

J Med Genet· November 2020

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Epicardial Adipose Tissue and IL-13 Response to Myocardial Injury Drives Left Ventricular Remodeling After ST Elevation Myocardial Infarction.
Valentina Parisi, Serena Cabaro, Vittoria D'Esposito, Laura Petraglia, Maddalena Conte, Maria Accadia

Front Physiol· October 2020

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Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di Iorgi, Maria Accadia

BMC Pediatr· November 2019

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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

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Pericardial thrombus and cardiac tamponade after pericardiocentesis with intact heart walls.
Maria Accadia, Marco Di Maio, Raffaele Iengo, Mariarosaria Arnese, Renato Cocchia

Echocardiography· April 2019

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Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Flavia A M Maggiolini, Stuart Cantsilieris, Pietro D'Addabbo, Michele Manganelli, Bradley P Coe, Maria Accadia

PLoS Genet· March 2019

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Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di Lorgi, Maria Accadia

BMC Pediatr· October 2018

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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

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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

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Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Maria Accadia

Hum Mutat· April 2017

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