Publications by authors named "Giuseppe Barrano"

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Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Generation Sequencing and Serological Analysis.
Maria Denaro, Elisa Ferro, Giuseppe Barrano, Salvatore Meli, Mariangela Busacca

Int J Mol Sci· March 2023

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Clinical Application of Easychip 8x15K Platform in 4106 Pregnancies Without Ultrasound Anomalies.
Valeria Orlando, Viola Alesi, Gianluca Di Giacomo, Michela Canestrelli, Chiara Calacci, Giuseppe Barrano

Reprod Sci· April 2021

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What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs.
Silvia Amodeo, Giuseppe Vitrano, Melania Guardino, Giuseppe Paci, Fulvio Corselli, Giuseppe Barrano

Ital J Pediatr· July 2020

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Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.
Stefania Zampatti, Julia Mela, Cristina Peconi, Giulia Pagliaroli, Stefania Carboni, Giuseppe Barrano

Prenat Diagn· December 2018

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A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS).
Rosangela Ferese, Stefania Zampatti, Anna Maria Pia Griguoli, Francesco Fornai, Emiliano Giardina, Giuseppe Barrano

J Mol Neurosci· July 2016

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335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.
Viola Alesi, Marta Bertoli, Giuseppe Barrano, Barbara Torres, Silvia Pusceddu

Gene· September 2012

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Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome.
Domenico Dell'edera, Annunziata Anna Epifania, Andrea Tinelli, Manuela Leo, Antonio Novelli, Giuseppe Barrano

Mol Med Rep· June 2012

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A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis.
Viola Alesi, Giuseppe Barrano, Sara Morara, Daria Darelli, Katia Petrilli

Am J Med Genet A· October 2011

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Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy.
Antonio Suppa, Alfredo Berardelli, Francesco Brancati, Massimo Marianetti, Giuseppe Barrano

Epilepsia· May 2009

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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Francesco Brancati, Giuseppe Barrano, Jennifer L Silhavy, Sarah E Marsh, Lorena Travaglini

Am J Hum Genet· July 2007

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Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.
Mattia Gambarin, Enza Maria Valente, Paolo Liberini, Giuseppe Barrano, Alberto Bonizzato

Mov Disord· October 2006

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Enza Maria Valente, Jennifer L Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami

Nat Genet· June 2006

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Enza Maria Valente, Francesco Brancati, Jennifer L Silhavy, Marco Castori, Sarah E Marsh, Giuseppe Barrano

Ann Neurol· March 2006

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