Claudio Graziano (C Graziano)

Scopus Author ID Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 27

Top Topics

Polycystic Kidney Disease

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

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

Publications

Mina Grippa, Claudio Graziano
Landscape of Constitutional SOX4 Variation in Human Disorders. Genes 15 (2) (2024)
Mina Grippa, Claudio Graziano
Landscape of Constitutional SOX4 Variation in Human Disorders. Genes 15 (2) (2024)
Mina Grippa, Claudio Graziano
Landscape of Constitutional SOX4 Variation in Human Disorders. Genes 15 (2) (2024)
Mina Grippa, Claudio Graziano
Landscape of Constitutional SOX4 Variation in Human Disorders. Genes 15 (2) (2024)
Mina Grippa, Claudio Graziano
Landscape of Constitutional SOX4 Variation in Human Disorders. Genes 15 (2) (2024)
Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population. Biomedicines 11 (3) (2023)
Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population. Biomedicines 11 (3) (2023)
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles. Genes 14 (6) (2023)
Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola, Claudio Graziano
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome. Genes 14 (2) (2023)
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles. Genes 14 (6) (2023)
Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola, Claudio Graziano
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome. Genes 14 (2) (2023)
Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola, Claudio Graziano
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome. Genes 14 (2) (2023)
Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola, Claudio Graziano
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome. Genes 14 (2) (2023)
Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola, Claudio Graziano
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome. Genes 14 (2) (2023)
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles. Genes 14 (6) (2023)
Enrico Ambrosini, Francesca Montanari, Carlotta Pia Cristalli, Irene Capelli, Claudio La Scola, Andrea Pasini, Claudio Graziano
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles. Genes 14 (6) (2023)
Naama Hirsch, Idit Dahan, Eva D'haene, Matan Avni, Sarah Vergult, Marta Vidal-García, Pamela Magini, Claudio Graziano, Giulia Severi, Elena Bonora, Anna Maria Nardone, Francesco Brancati, Alberto Fernández Jaén, Olson J Rory, Benedikt Hallgrimsson, Ramon Y Birnbaum
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations. Genome research 32 (7) (2022)
Daniele Castiglia, Paola Fortugno, Angelo Giuseppe Condorelli, Sabina Barresi, Naomi De Luca, Simone Pizzi, Iria Neri, Claudio Graziano, Diletta Trojan, Diego Ponzin, Sabrina Rossi, Giovanna Zambruno, Marco Tartaglia
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops. Genes 12 (5) (2021)
Sara Nuovo, Alessia Micalizzi, Ludovica Pasca, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. Journal of medical genetics (2021)
Anna Morgan, Flavio Faletra, Giulia Severi, Martina La Bianca, Laura Licchetta, Paolo Gasparini, Claudio Graziano, Giorgia Girotto
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss. Biomedicines 10 (1) (2021)
Jacopo Pruccoli, Claudio Graziano, Chiara Locatelli, Lucia Maltoni, Hodman Ahmed Sheikh Maye, Duccio Maria Cordelli
Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature. Genes 12 (10) (2021)
Luca Spinardi, Gianfranco Vornetti, Sara Rosa Maria De Martino, Rita Golfieri, L Faccioli, M Pastore Trossello, Claudio Graziano, Maria Elisabetta Mariucci, Andrea Donti
Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis. AJNR. American journal of neuroradiology 41 (10) (2020)
Maria Elisabetta Mariucci, Luca Spinardi, Silvia Stagni, Claudio Graziano, Luigi Lovato, Davide Pacini, Luca Di Marco, Lucio Careddu, Emanuela Angeli, Cristina Ciuca, Anita Wischmeijer, Gaetano Gargiulo, Andrea Donti
Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene. American journal of medical genetics. Part A 182 (7) (2020)
Anna Morgan, Stefania Lenarduzzi, Beatrice Spedicati, Elisabetta Cattaruzzi, Flora Maria Murru, Giulia Pelliccione, Daniela Mazzà, Marcella Zollino, Claudio Graziano, Umberto Ambrosetti, Marco Seri, Flavio Faletra, Giorgia Girotto
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population. Genes 11 (11) (2020)
Simona Amenta, Silvia Frangella, Giuseppe Marangi, Serena Lattante, Stefania Ricciardi, Paolo Niccolò Doronzio, Daniela Orteschi, Chiara Veredice, Ilaria Contaldo, Giuseppe Zampino, Mattia Gentile, Emanuela Scarano, Claudio Graziano, Marcella Zollino
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Journal of medical genetics (2020)
Giovanni Innella, Donatella Greco, Diana Carli, Pamela Magini, Elisa Giorgio, Ornella Galesi, Giovanbattista Giovanni Battista Ferrero, Corrado Romano, Alfredo Brusco, Claudio Graziano
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). American journal of medical genetics. Part A 185 (2) (2020)
Claudio Graziano, Patrick Despang, Flavia Palombo, Giulia Severi, Annio Posar, Alessandra Cassio, Tommaso Pippucci, Federica Isidori, Jan Matthes, Elena Bonora
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder. Journal of autism and developmental disorders (2020)