Publications by authors named "Maria C Digilio"

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Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.
Chiara Minotti, Sara Terreri, Andrea Del Fattore, Francesca Romana Lepri, Rosario Ruta, Maria Cristina Digilio

Clin Genet· January 2026

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Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study.
Marco Cappa, Marco Cappa, Francesco d'Aniello, Maria Cristina Digilio, Maria Giulia Gagliardi

Horm Res Paediatr· December 2025

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Further evidence of variants causing Joubert syndrome with skeletal involvement.
Fulvio D'Abrusco, Simone Gana, Enrico Alfei, Emanuela Scarano, Francesco Nicita, Maria Cristina Digilio

J Med Genet· November 2025

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9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.
Alessandro De Falco, Marie Vincent, Gaëlle Vieville, Marjolaine Gauthier, Klaus Dieterich, Maria Cristina Digilio

Am J Med Genet A· November 2025

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Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio

Am J Med Genet A· September 2025

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Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.
Alessandra Di Pede, Monia Magliozzi, Laura Valfré, Maria Lisa Dentici, Flaminia Pugnaloni, Maria Cristina Digilio

Genes (Basel)· September 2025

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Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Julia Volpi, Xiaonan Zhao, Nichole Owen, Tia Evans, Muriel Holder-Espinasse, Maria Cristina Digilio

Eur J Hum Genet· August 2025

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MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Maria Cristina Digilio

Am J Med Genet A· June 2025

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Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.
Jacopo Sartorelli, Lorena Travaglini, Giacomo Garone, Maria L Dentici, Lorenzo Sinibaldi, Maria C Digilio

Neuropediatrics· June 2025

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AUTS2-related syndrome: Insights from a large European cohort.
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima, Anne Destrèe, Maria Cristina Digilio

Genet Med· June 2025

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Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.
Xiaodun Yang, Angela Zanfardino, Riccardo Schiaffini, Jeff Ishibashi, Bareket Daniel, Maria Cristina Digilio

JCI Insight· June 2025

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Clinical Variability of Shashi-Pena Syndrome: A Novel Variant Associated with Overgrowth and Minor Neurodevelopmental Features.
Chiara Minotti, Ludovico Graziani, Alessia Micalizzi, Maria Lisa Dentici, Rossella Capolino, Maria Cristina Digilio

Mol Syndromol· May 2025

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Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Charlotte Guillouet, Valeria Agostini, Geneviève Baujat, Dario Cocciadiferro, Tommaso Pippucci, Maria Cristina Digilio

Am J Hum Genet· April 2025

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First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review.
Massimo Apicella, Andrea Battisti, Elisa Pisaneschi, Deny Menghini, Maria Cristina Digilio

Clin Neuropsychol· February 2025

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Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Davide Vecchio, Filippo M Panfili, Marina Macchiaiolo, Maria Lisa Dentici, Marina Trivisano, Maria Cristina Digilio

Eur J Med Genet· February 2025

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Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
Alessandro De Falco, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Maria Cristina Digilio

Eur J Paediatr Neurol· January 2025

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Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.
Francesco Dellepiane, Giulia Moltoni, Sara Ronci, Alessia Guarnera, Maria Camilla Rossi-Espagnet, Maria Cristina Digilio

Biomedicines· December 2024

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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 Cristina Digilio

Genet Med· November 2024

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Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Giacomo Garone, Alice Innocenti, Melissa Grasso, Alessandra Mandarino, Alessandro Capuano, Maria Cristina Digilio

Parkinsonism Relat Disord· September 2024

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Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.
Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia

Ital J Pediatr· September 2024

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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Maria Cristina Digilio

Eur J Hum Genet· August 2024

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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Maria Cristina Digilio

Eur J Hum Genet· August 2024

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Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.
Carolina Putotto, Marco Masci, Monia Magliozzi, Antonio Novelli, Bruno Marino, Maria Cristina Digilio

Birth Defects Res· July 2024

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A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese, Giorgia Catino, Valerio Mei, Maria Cristina Digilio

Int J Mol Sci· June 2024

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Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.
Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Maria Cristina Digilio

J Cardiovasc Dev Dis· April 2024

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