Gioacchino Scarano (G Scarano)

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 11

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Pulmonary Hypertension

Top Venues

Journal of endocrinological investigation

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome. Genes 15 (1) (2023)
Flaviana Marzano, Matteo Chiara, Arianna Consiglio, Gabriele D'Amato, Mattia Gentile, Valentina Mirabelli, Maria Piane, Camilla Savio, Marco Fabiani, Domenica D'Elia, Elisabetta Sbisà, Gioacchino Scarano, Fortunato Lonardo, Apollonia Tullo, Graziano Pesole, Maria Felicia Faienza
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II. International journal of molecular sciences 24 (15) (2023)
Maria Francesca Bedeschi, Stefano Mora, Franco Antoniazzi, Silvio Boero, Roberto Ravasio, Gioacchino Scarano, Angelo Selicorni, M Sessa, F Verdoni, Giuseppe Zampino, Mohamad Maghnie, null null
The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys. Journal of endocrinological investigation (2023)
Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D'Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect. Genes 14 (7) (2023)
Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome. Genes 15 (1) (2023)
Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome. Genes 15 (1) (2023)
Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome. Genes 15 (1) (2023)
Maria Elena Onore, Martina Caiazza, Antonella Farina, Gioacchino Scarano, Alberto Budillon, Rossella Nicoletta Borrelli, Giuseppe Limongelli, Vincenzo Nigro, Giulio Piluso
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome. Genes 15 (1) (2023)
Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D'Angelo, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Gioacchino Scarano, Giovanni Battista Rossi, Claudia Angelini, Angela Sparago, Flavia Cerrato, Andrea Riccio
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer. Cancers 15 (7) (2023)
Giovanna Tritto, Ivana Ricca, Marco Turi, Andrea Gemma, Filippo Muratori, Gioacchino Scarano, Fortunato Lonardo
Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report. Children (Basel, Switzerland) 8 (6) (2021)
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djuric, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Lughetti, Didier Lacombe, Massimo Maggi, Baris Malbora, Isabella Mammi, Sebastien Moutton, Rikke Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, Maria Luisa Poch-Olive, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B Dobyns, Alex R Paciorkowski
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genetics in medicine : official journal of the American College of Medical Genetics 19 (6) (2016)