Publications by authors named "Roberta Milone"

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European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.
Madeleine Bloomfield, Alexandra Lautarescu, Síofra Heraty, Sarah Douglas, Pierre Violland, Roberta Milone

BMJ Open· June 2024

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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Francesca Peluso, Stefano G Caraffi, Gianluca Contrò, Lara Valeri, Manuela Napoli, Annarita Milone, Roberta Milone

J Med Genet· November 2023

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Enhancing Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances.
Veronica Bertini, Roberta Milone, Paola Cristofani, Francesca Cambi, Chiara Bosetti

Genes (Basel)· May 2022

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Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.
Roberta Milone, Claudia Cesario, Marina Goldoni, Rosa Pasquariello, Caterina Fusilli

J Pediatr Genet· December 2021

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Expanding the KIF4A-associated phenotype.
Silvia Kalantari, Colleen Carlston, Norah Alsaleh, Ghada M H Abdel-Salam, Fowzan Alkuraya, Roberta Milone

Am J Med Genet A· December 2021

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Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration.
Roberta Battini, Roberta Milone, Chiara Aiello, Guja Astrea, Antonella Sferra

Brain Dev· October 2021

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17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.
Roberta Milone, Raffaella Tancredi, Angela Cosenza, Anna Rita Ferrari, Roberta Scalise

Genes (Basel)· October 2021

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Focusing on Autism Spectrum Disorder in Xia-Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review.
Stefania Della Vecchia, Roberta Milone, Romina Cagiano, Sara Calderoni, Elisa Santocchi

Children (Basel)· May 2021

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De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability.
Roberta Milone, Roberta Scalise, Rosa Pasquariello, Stefano Berloffa, Ivana Ricca

Genes (Basel)· March 2021

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Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.
Roberta Battini, Giorgia Olivieri, Roberta Milone, Federica Mazio, Roberta Scalise

Brain Dev· June 2020

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A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined.
Roberta Milone, Maria Gnazzo, Elena Stefanutti, Dorella Serafin, Antonio Novelli

Brain Dev· February 2020

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A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
Roberta Milone, Riccardo Masson, Caterina Di Cosmo, Massimo Tonacchera, Veronica Bertini

Child Neurol Open· February 2019

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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Roberta Milone

Front Neurol· December 2018

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Four years follow up of ACY1 deficient patient and pedigree study.
Maria Grazia Alessandrì, Roberta Milone, Claudia Casalini, Claudia Nesti, Giovanni Cioni

Brain Dev· August 2018

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Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion.
Roberta Milone, Angelo Valetto, Veronica Bertini, Federico Sicca

Epileptic Disord· June 2017

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Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?
Veronica Bertini, Alessia Azzarà, Annalisa Legitimo, Roberta Milone, Roberta Battini

Front Genet· May 2017

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Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion.
Roberta Milone, Anna Rita Ferrari, Rosa Pasquariello, Stefania Bargagna

Child Neurol Open· December 2016

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Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication.
Roberta Milone, Angelo Valetto, Roberta Battini, Veronica Bertini, Giulia Valvo

Eur J Med Genet· May 2016

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Synthetic response of stimulated respiratory epithelium: modulation by prednisolone and iKK2 inhibition.
Lucy Bianca Woodman, Wing Yan Heidi Wan, Roberta Milone, Ken Grace, Ana Sousa

Chest· June 2013

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