Publications by authors named "Alessandro Falco"

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Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From Variants to Clinical Phenotypes.
Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, Mariateresa Zanobio, Margherita Scarpato, Alessandro De Falco

Neurol Genet· December 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, Luigia De Falco

Am J Med Genet A· November 2025

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Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.
Alessandro De Falco, Fabiola De Gregorio, Massimo Eraldo Abate, Chiara Paolella, Vincenzo Nigro

Am J Med Genet A· May 2025

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Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.
Alessandro De Falco, Elia Marco Paolo Minale, Camilla Meossi, Stefano Pagano, Rosanna Trovato

Am J Med Genet A· April 2025

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Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.
Alessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, Mattia Carvetta, Maria Chiara Baroni, Alessandro De Falco

Eur J Hum Genet· April 2025

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Impact of SDHA Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes.
Camilla Meossi, Alessandro De Falco, Marco Marchi, Anna Rubegni, Stefano Pagano

Clin Genet· March 2025

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Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in : An Italian Cohort Study.
Stefano Pagano, Diego Lopergolo, Alessandro De Falco, Camilla Meossi, Sara Satolli

Genes (Basel)· 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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Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-Up.
Antonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, Elia Marco Paolo Minale, Giangiacomo Di Nardo

Children (Basel)· October 2024

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Biologic anti-IL17 drugs in erythrodermic psoriasis.
Alessandro Falco, Cristina Mugheddu, Jasmine Anedda, Laura Pizzatti, Alice Tatti

JAAD Int· September 2024

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Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect.
Alessandro De Falco, Antonella Gambale, Michele Pinelli, Teresa Suero, Luigia De Falco

Cells· June 2024

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Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
Alessandro De Falco, Marianthi Karali, Chiara Criscuolo, Francesco Testa, Maria Rosaria Barillari

Am J Med Genet A· May 2024

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First Case of a Dominant De Novo Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo

Genes (Basel)· January 2024

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New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients.
Alessandro De Falco, Achille Iolascon, Flora Ascione, Carmelo Piscopo

Genes (Basel)· May 2023

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Non-surgical treatment of hidradenitis suppurativa: the role of cryotherapy.
Massimo Dell'Antonia, Jasmine Anedda, Alice Tatti, Alessandro Falco, Silvia Sanna

Front Med (Lausanne)· April 2023

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A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi

Genes (Basel)· January 2023

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