Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations by Giulio Calcagni, Maria Cristina Digilio, Bruno Marino, Marco Tartaglia

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Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains by Giulia Fasano, Claudia Compagnucci, Bruno Dallapiccola, Marco Tartaglia, Antonella Lauri

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Editorial: Endocrine aspects of Noonan syndrome and related syndromes by Giorgio Radetti, Thomas Edouard, Laura Mazzanti, Marco Tartaglia, Martin Zenker

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Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency by Fiorella Colasuonno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno

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Inside the Noonan “universe”: Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns by Stefano Stagi, Vittorio Ferrari, Marta Ferrari, Manuela Priolo, Marco Tartaglia

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Induced Pluripotent Stem Cells (iPSCs) and Gene Therapy: A New Era for the Treatment of Neurological Diseases by Giulia Paolini Sguazzi, Valentina Muto, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci

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New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement by Fiorella Colasuonno, Chiara Marioli, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno

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Cost-effectiveness of exome sequencing: an Italian pilot study on undiagnosed patients by F. Clementina Radio, Massimiliano Ruzzeddu, Andrea Bartuli, Antonio Novelli, Marco Tartaglia, Bruno Dallapiccola

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Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor by Giulia Fasano, Stefania Petrini, Valeria Bonavolontà, Graziamaria Paradisi, Catia Pedalino, Marco Tartaglia, Antonella Lauri

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Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids by Rossella Borghi, Valentina Magliocca, Marina Trivisano, Nicola Specchio, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci

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Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis by Rossella Borghi, Valentina Magliocca, Stefania Petrini, Libenzio Adrian Conti, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci

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Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency by Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci

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CRISPR/Cas9 and <i>piggyBac</i> Transposon-Based Conversion of a Pathogenic Biallelic <i>TBCD</i> Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophen... by Valentina Muto, Federica Benigni, Valentina Magliocca, Rossella Borghi, Elisabetta Flex, Valentina Pallottini, Alessandro Rosa, Claudia Compagnucci, Marco Tartaglia

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A minimally invasive fin scratching protocol for fast genotyping and early selection of zebrafish embryos by Martina Venditti, Catia Pedalino, Marion Rosello, Giulia Fasano, Malo Serafini, Céline Revenu, Filippo Del Bene, Marco Tartaglia, Antonella Lauri

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Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey by Mario Cesare Nurchis, Gian Marco Raspolini, Aurora Heidar Alizadeh, Gerardo Altamura, Francesca Clementina Radio, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani

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Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons by Chiara Marioli, Maurizio Muzzi, Fiorella Colasuonno, Cristian Fiorucci, Nicolò Cicolani, Stefania Petrini, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno

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Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype by Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli

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Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants by Manuela Priolo, Cecilia Mancini, Simone Pizzi, Luigi Chiriatti, Francesca Clementina Radio, Viviana Cordeddu, Letizia Pintomalli, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

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Defining language disorders in children and adolescents with Noonan Syndrome by Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C. Digilio, Rossella Capolino, Giuseppe Zampino, Marco Tartaglia, Stefano Vicari, Paolo Alfieri

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Co-Occurring Heterozygous <em>CNOT3</em> and <em>SMAD6</em> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype by Manuela Priolo, Francesca Clementina Radio, Simone Pizzi, Letizia Pintomalli, Francesca Pantaleoni, Cecilia Mancini, Viviana Cordeddu, Emilio Africa, Corrado Mammì, Bruno Dallapiccola, Marco Tartaglia

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