Publications by authors named "Giulia Pascolini"

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Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.
Natasha L Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul-Rahman, Drew Cratsenberg, Giulia Pascolini

Am J Med Genet A· November 2025

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Efficacy of JAK inhibitors in treating dominant dystrophic epidermolysis bullosa and alopecia areata.
Francesco Moro, Maria B Pupa, Jo L Sinagra, Valeria Pacifico, Federica Trovato, Giulia Pascolini

Ital J Dermatol Venerol· October 2025

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Keratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case Report.
Gianluca Gizzi, Dario Didona, Giulia Pascolini, Michael Gores, Mohamed Ishaq Amer

Case Rep Dermatol· May 2025

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An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.
Giulia Pascolini, Dario Didona, Luigi Tarani

Diagnostics (Basel)· February 2025

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Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair Association.
Giulia Pascolini, Giovanni Luca Scaglione, Feliciana Mariotti, Paola Concolino, Angelo Minucci

Exp Dermatol· November 2024

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Broadening the -Associated Neurodevelopmental Phenotype.
Giulia Pascolini, Giovanni Luca Scaglione, Balasubramanian Chandramouli, Daniele Castiglia, Giovanni Di Zenzo

Children (Basel)· November 2024

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Clinical Improvement of Bullous Pemphigoid with Hyperkeratosis and Palmoplantar Keratoderma in Two Patients Treated with Dupilumab.
Giulia Pascolini, Feliciana Mariotti, Anna Pira, Biagio Didona, Giovanni Di Zenzo

Acta Derm Venereol· October 2024

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The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.
Giulia Pascolini, Martina Lipari, Federica Gaudioso, Luca Fania, Giovanni Di Zenzo

Mol Genet Genomic Med· August 2024

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Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.
Maria Gnazzo, Giulia Pascolini, Giovanni Parlapiano, Francesco Petrizzelli, Daniele Perrino

Clin Genet· July 2024

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Ectoderm-derived findings in Aymè-Gripp syndrome.
Giulia Pascolini, Giovanni Di Zenzo, Paolo Morani, Biagio Didona, Annarita Panebianco

J Dermatol· May 2024

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Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
Giulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco, Biagio Didona, Illana Gozes

Am J Med Genet A· May 2024

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Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1).
Giulia Pascolini, Paola Fortugno, Balasubramanian Chandramouli, Biagio Didona, Daniele Castiglia

Eur J Dermatol· October 2023

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Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
Anwar Baban, Marianna Cicenia, Monia Magliozzi, Giovanni Parlapiano, Marco Cirillo, Giulia Pascolini

Front Cardiovasc Med· July 2023

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Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.
Giulia Pascolini, Federica Gaudioso, Marina Baldi, Dario Alario, Francesco Dituri

J Hum Genet· June 2023

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First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes.
Giulia Pascolini, Mauro Calvani, Paola Grammatico

Ital J Pediatr· June 2022

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Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance.
Giulia Pascolini, Maria Gnazzo, Antonio Novelli, Paola Grammatico

Am J Med Genet A· May 2022

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Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB.
Giulia Pascolini, Chiara Passarelli, Martina Lipari, Balasubramanian Chandramouli, Giovanni Chillemi

Clin Genet· March 2022

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Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Giulia Pascolini, Federica Gaudioso, Chiara Passarelli, Antonio Novelli, Niccolò Di Giosaffatte

J Mol Neurosci· December 2021

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Metacarpophalangeal profile pattern analysis in a further patient with a novel ARID1B variant.
Giulia Pascolini

Congenit Anom (Kyoto)· September 2021

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Giulia Pascolini

Genet Med· June 2021

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Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Silvia Majore, Emanuele Agolini, Lucia Micale, Giulia Pascolini, Paolo Zuppi

Clin Genet· April 2021

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Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestry.
Giulia Pascolini, Federica Gaudioso, Maria Teresa Fadda, Luigi Laino, Alessandro Ferraris

Am J Med Genet A· March 2021

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Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication.
Giulia Pascolini, Emanuele Agolini, Nicole Fleischer, Rosella Pierantoni, Sara Loddo

Neurol Sci· December 2020

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Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".
Giulia Pascolini, Michele Valiante, Irene Bottillo, Luigi Laino, Nicole Fleischer

Eur J Med Genet· October 2020

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Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Michael S Breen, Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Giulia Pascolini

Am J Hum Genet· September 2020

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