Publications by authors named "Mario Bengala"

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Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.
Ludovico Graziani, Silvia Genovese, Maria Luce Genovesi, Cristiana Di Rosa, Rosalba Di Noi, Mario Bengala

Mol Cytogenet· October 2025

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Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of -Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.
Ludovico Graziani, Miriam Lucia Carriero, Salvatore Melchionda, Bartolomeo Augello, Orazio Palumbo, Mario Bengala

Genes (Basel)· October 2025

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WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.
Ludovico Graziani, Miriam Lucia Carriero, Valentina Ferradini, Chiara Conte, Mario Bengala

Clin Genet· March 2025

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Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
Adrian F Daly, Leslie A Dunnington, David F Rodriguez-Buritica, Erica Spiegel, Francesco Brancati, Mario Bengala

Genome Med· September 2024

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Genetic Variability of -Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.
Ludovico Graziani, Miriam Lucia Carriero, Flavio Pozzi, Chiara Minotti, Aikaterini Andreadi, Mario Bengala

Mol Syndromol· August 2024

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A Novel Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.
Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero, Mario Bengala, Silvia Lai

Genes (Basel)· May 2024

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A case of hereditary dementia: Is it Alzheimer's disease or not?
Chiara Giuseppina Bonomi, Matilde Bruno, Vito Luigi Colona, Mario Bengala, Alessandro Martorana

J Neurol Sci· March 2024

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Long-Term Treatment with the Calcitonin Gene-Related Peptide Receptor Antagonist Erenumab in CADASIL: Two Case Reports.
Maria Albanese, Francesca Pescini, Chiara Di Bonaventura, Luigi Francesco Iannone, Silvia Bianchi, Mario Bengala

J Clin Med· March 2024

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Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGR Genetic Variants.
Gabriele Bonetti, William Cozza, Andrea Bernini, Jurgen Kaftalli, Chiara Mareso, Mario Bengala

Int J Mol Sci· November 2023

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Co-Inheritance of Pathogenic Variants in and Genes Determined by Parental Segregation and De Novo Origin: A Case Report.
Ludovico Graziani, Stefania Zampatti, Miriam Lucia Carriero, Chiara Minotti, Cristina Peconi, Mario Bengala

Genes (Basel)· August 2023

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Disorder of sex development: a rare case of a boy with an XY karyotype and Magnetic Resonance Imaging findings of hermaphroditism.
Rosaria Meucci, Mario Bengala, Guglielmo Manenti, Francesca Montesanto, Chiara Palombi

JBRA Assist Reprod· June 2023

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A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.
Ludovico Graziani, Giacomo Cinnirella, Valentina Ferradini, Chiara Conte, Federica Lo Bascio, Mario Bengala

Am J Med Genet A· June 2023

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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P Ferla, Shahryar Alavi, Mario Bengala

Genet Med· January 2023

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Case Report: Crossing a rugged road in a primary immune regulatory disorder.
Mayla Sgrulletti, Cristina Cifaldi, Silvia Di Cesare, Barbara Kroegler, Elisabetta Del Duca, Mario Bengala

Front Pediatr· January 2023

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1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.
Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala

J Cardiovasc Dev Dis· November 2021

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A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated Alleles.
Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Mario Bengala

Front Genet· June 2021

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Mario Bengala

Hum Mutat· January 2020

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Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Carmela Fusco, Grazia Nardella, Rita Fischetto, Massimiliano Copetti, Antonio Petracca, Mario Bengala

Hum Mol Genet· July 2019

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A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.
Marina Diomedi, Ziv Gan-Or, Fabio Placidi, Patrick A Dion, Anna Szuto, Mario Bengala

Eur J Med Genet· November 2016

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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Michele Ciavarella, Michelina Coco, Filomena Baorda, Pietro Stanziale, Massimiliano Chetta, Mario Bengala

Gene· February 2013

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A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Monica Marini, Renata Bocciardi, Stefania Gimelli, Marco Di Duca, Maria T Divizia, Mario Bengala

Genet Med· July 2010

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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
Maria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, Silvia Russo, Anna Maria Nardone

BMC Med Genet· April 2004

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