A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D by Viola Alesi, Francesca Sessini, Silvia Genovese, Giusy Calvieri, Ester Sallicandro, Laura Ciocca, Maura Mingoia, Antonio Novelli, Paolo Moi

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Neurological and Neuroimaging Features of <i>CYB5R3</i>-Related Recessive Hereditary Methemoglobinemia Type II by Francesco Nicita, Letizia Sabatini, Viola Alesi, Giulia Lucignani, Ester Sallicandro, Antonella Sferra, Enrico Bertini, Ginevra Zanni, Giuseppe Palumbo

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Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene by Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem

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A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign by Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli

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Different Mechanisms Cause Hypomethylation of Both <i>H19</i> and <i>KCNQ1OT1</i> Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum by Francesco Passaretti, Laura Pignata, Giuseppina Vitiello, Viola Alesi, Gemma D’Elia, Francesco Cecere, Fabio Acquaviva, Daniele De Brasi, Antonio Novelli, Andrea Riccio, Achille Iolascon, Flavia Cerrato

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Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review by Chiara Minotti, Chiara Minotti, Ludovico Graziani, Ludovico Graziani, Ester Sallicandro, Maria Cristina Digilio, Roberto Falasca, Viola Alesi, Giuseppe Novelli, Giuseppe Novelli, Maria Lisa Dentici, Sara Loddo, Antonio Novelli

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1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review by Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban

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Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports by Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri

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A Complex Genomic Rearrangement Resulting in Loss of Function of <i>SCN1A</i> and <i>SCN2A</i> in a Patient with Severe Developmental and Epileptic Encephalopathy by Valeria Orlando, Silvia Di Tommaso, Viola Alesi, Sara Loddo, Silvia Genovese, Giorgia Catino, Licia Martucci, Maria Cristina Roberti, Marina Trivisano, Maria Lisa Dentici, Nicola Specchio, Bruno Dallapiccola, Alessandro Ferretti, Antonio Novelli

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PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports by Federica Alice Maria Montanaro, Alessandra Mandarino, Viola Alesi, Charles Schwartz, Daniela Judith Claps Sepulveda, Cindy Skinner, Michael Friez, Gabriele Piccolo, Antonio Novelli, Ginevra Zanni, Maria Lisa Dentici, Stefano Vicari, Paolo Alfieri

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Deep Intronic LINE-1 Insertions in <i>NF1</i>: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements by Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino

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Cardiovascular Involvement in Pediatric <i>FLNC</i> Variants: A Case Series of Fourteen Patients by Anwar Baban, Viola Alesi, Monia Magliozzi, Giovanni Parlapiano, Silvia Genovese, Marianna Cicenia, Sara Loddo, Valentina Lodato, Luca Di Chiara, Fabiana Fattori, Adele D’Amico, Paola Francalanci, Antonio Amodeo, Antonio Novelli, Fabrizio Drago

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Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis by Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli

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7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling by Maria Lisa Dentici, Paola Bergonzini, Francesco Scibelli, Cristina Caciolo, Paola De Rose, Francesca Cumbo, Viola Alesi, Rossella Capolino, Ginevra Zanni, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Maria Cristina Digilio, Bruno Dallapiccola, Stefano Vicari, Paolo Alfieri

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Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome by Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio

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Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis by Alessandra Boni, Marco Ranalli, Giada Del Baldo, Roberto Carta, Mariachiara Lodi, Emanuele Agolini, Martina Rinelli, Diletta Valentini, Sabrina Rossi, Viola Alesi, Antonella Cacchione, Evelina Miele, Iside Alessi, Anna Maria Caroleo, Giovanna Stefania Colafati, Maria Antonietta De Ioris, Luigi Boccuto, Mario Balducci, Andrea Carai, Angela Mastronuzzi

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