Fortunato Lonardo - Dissemin

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All papers authored by Fortunato Lonardo

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2023 Flaviana Marzano, Matteo Chiara

ORCID

, Arianna Consiglio

ORCID

, Gabriele D’Amato, Mattia Gentile

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, Valentina Mirabelli

ORCID

ORCID

, Camilla Savio, Marco Fabiani

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, Domenica D’Elia

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, Elisabetta Sbisà, Gioacchino Scarano

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, Fortunato Lonardo

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, Apollonia Tullo

ORCID

, Graziano Pesole

ORCID

and 1 other authors

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

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Paolo Fontana

ORCID

, Domenico Simeone, Alberto Budillon

ORCID

, Francesca Del Vecchio Blanco, Martina Caiazza

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, Alessandra D’Amico, Fortunato Lonardo

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, Vincenzo Nigro, Giuseppe Limongelli

ORCID

, Gioacchino Scarano

ORCID

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

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2021 Giovanna Tritto, Ivana Ricca

ORCID

, Marco Turi, Andrea Gemma, Filippo Muratori, Gioacchino Scarano

ORCID

, Fortunato Lonardo

ORCID

Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report

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2018 Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, Lynne M. Bird, Maria A. Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins and 55 other authors

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

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Laura Bernardini

ORCID

, Francesca C. Radio

ORCID

, Fabio Acquaviva, Cristina Gorgone, Diana Postorivo, Barbara Torres, Viola Alesi, Monia Magliozzi, Fortunato Lonardo

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, Matteo Della Monica, Anna M. Nardone, Claudia Cesario, Teresa Mattina

ORCID

, Gioacchino Scarano

ORCID

, Bruno Dallapiccola and 2 other authors

Small 4p16.3 deletions: Three additional patients and review of the literature

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Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, Lynne M. Bird, Maria A. Blazo, Leah W. Burke, Ashley Cannon, Felicity Collins and 55 other authors

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

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Andrea Remo

ORCID

, Erminia Manfrin

ORCID

, Pietro Parcesepe, Alberto Ferrarini

ORCID

, Hye Seung Han, Ugnius Mickys, Carmelo Laudanna, Michele Simbolo, Donatella Malanga, Duarte Mendes Oliveira, Elisabetta Baritono, Tommaso Colangelo, Lina Sabatino, Jacopo Giuliani, Enrico Molinari and 14 other authors

Centrosome Linker–induced Tetraploid Segregation Errors Link Rhabdoid Phenotypes and Lethal Colorectal Cancers

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Maria Chiara de Stefano, Giovanna Floridia, Federica Censi, Fabrizio Tosto, Marco Salvatore, Alessandro Civolani, Barbara Crescenzi, Daniela Giardino, Elisabetta Lenzini, Ermanna Lisi, Fortunato Lonardo

ORCID

, Marco Mancini, Antonio Novelli, Giuseppe Piombo, Sabine Stioui and 1 other authors

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

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F. Lonardo

ORCID

, M. S. Lonardo, F. Acquaviva, M. Della Monica, F. Scarano, G. Scarano

ORCID

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

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2017 A. Vetro, D. Goidin, I. Lesende, I. Limongelli, G. N. Ranzani, F. Novara, M. C. Bonaglia, B. Rinaldi, F. Franchi, E. Manolakos, F. Lonardo

ORCID

, F. Scarano, G. Scarano

ORCID

, L. Costantino, S. Tedeschi and 2 other authors

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH

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P. Fontana

ORCID

, M. Grasso, F. Acquaviva, E. Gennaro, M. L. Galli, M. Falco, F. Scarano, G. Scarano

ORCID

, F. Lonardo

ORCID

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly

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2016 Fabio Acquaviva, Maria Elena Sana, Matteo Della Monica, Michele Pinelli, Diana Postorivo, Paolo Fontana, Maria Teresa Falco, Anna Maria Nardone, Fortunato Lonardo

ORCID

, Maria Iascone

ORCID

, Gioacchino Scarano

ORCID

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

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2015 Fortunato Lonardo

ORCID

ORCID

, Scarano Gioacchino

The promise of non-invasive prenatal testing needs to be monitored scientifically

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2014 Fortunato Lonardo

ORCID

, Paola Di Natale, Susanna Lualdi, Fabio Acquaviva, Cristina Cuoco, Francesca Scarano, Marianna Maioli, Luigi Michele Pavone, Grazia Di Gregorio, Mirella Filocamo, Gioacchino Scarano

ORCID

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation

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2013 Matteo Della Monica, Domenico Galzerano, Sara Di Michele, Fabio Acquaviva, Giovanni Gregorio, Fortunato Lonardo

ORCID

, Francesca Sguazzo, Francesca Scarano, Diana Lama, Gioacchino Scarano

ORCID

Science, Art, and Mistery in the Statues and in the Anatomical Machines of the Prince of Sansevero: The Masterpieces of the "Sansevero Chapel"

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Matteo Della Monica, Roberto Mauri, Francesca Scarano, Fortunato Lonardo

ORCID

, Gioacchino Scarano

ORCID

The Salernitan School of Medicine: Women, Men, and Children. A Syndromological Review of the Oldest Medical School in the Western World

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Fortunato Lonardo

ORCID

Genomic microarrays in prenatal diagnosis

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Gianpaolo De Filippo, Domenico Rendina, Alfredo Nazzaro, Fortunato Lonardo

ORCID

, Claire Bouvattier, Pasquale Strazzullo

Baseline Inhibin B Levels for Diagnosis of Central Precocious Puberty in Girls

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2011 Fortunato Lonardo

ORCID

, Lucia Perone, Marianna Maioli, Maria Ciavarella, Roberto Ciccone, Matteo Della Monica, Matteo Della Monica, Cinzia Lombardi, Luisa Forino, Giuseppina Cantalupo, Lucia Masella, Francesca Scarano

Clinical, Cytogenetic and Molecular-Cytogenetic Characterization of a Patient With a De Novo Tandem Proximal-Intermediate Duplication of 16q and Review of the Literature

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2009 Fortunato Lonardo

ORCID

, Giuseppina Cantalupo, Maria Ciavarella, Matteo Della Monica, Cinzia Lombardi, Marianna Maioli, Lucia Masella, Alfredo Nazzaro, Gioacchino Scarano

ORCID

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation

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