Ugo Sorrentino

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 29

Top Topics

Vascular Smooth Muscle Cells

Intellectual Disability

Top Venues

Journal of neurology

European journal of human genetics : EJHG

Tremor and other hyperkinetic movements (New York, N.Y.)

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

Publications

Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. Journal of neurology 271 (5) (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Ugo Sorrentino, Massimo Menegazzo, Ilaria Gabbiato, Davide Calosci, Carlo Federico Zambon, Daniela Zuccarello
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples. Genes 15 (7) (2024)
Ugo Sorrentino, Massimo Menegazzo, Ilaria Gabbiato, Davide Calosci, Carlo Federico Zambon, Daniela Zuccarello
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples. Genes 15 (7) (2024)
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. Journal of neurology 271 (5) (2024)
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. Journal of neurology 271 (5) (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. Journal of neurology 271 (5) (2024)
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. Journal of neurology 271 (5) (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG 32 (7) (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG 32 (7) (2024)
Ugo Sorrentino, Luigi Michele Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Ján Necpál, Robert Jech, Michael Zech
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. Tremor and other hyperkinetic movements (New York, N.Y.) 14 (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG 32 (7) (2024)
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. Journal of neurology 271 (5) (2024)
Cristina Calderan, Ugo Sorrentino, Luca Persano, Eva Trevisson, Geppo Sartori, Leonardo Salviati, Maria Andrea Desbats
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. European journal of human genetics : EJHG 32 (7) (2024)
Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes. Journal of neurology (2024)
Ugo Sorrentino, Massimo Menegazzo, Ilaria Gabbiato, Davide Calosci, Carlo Federico Zambon, Daniela Zuccarello
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples. Genes 15 (7) (2024)
Ugo Sorrentino, Massimo Menegazzo, Ilaria Gabbiato, Davide Calosci, Carlo Federico Zambon, Daniela Zuccarello
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples. Genes 15 (7) (2024)
Tiziana Persico, Maria Lucrezia Tranquillo, Renato Seracchioli, Daniela Zuccarello, Ugo Sorrentino
PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. Genes 15 (1) (2023)
Ugo Sorrentino, Marny Fedrigo, Anna Paola Calò, Martina Perin, Paola Veronese, Leonardo Salviati
ZFHX4 truncating variant and orofacial clefting. American journal of medical genetics. Part A (2023)
Tiziana Persico, Maria Lucrezia Tranquillo, Renato Seracchioli, Daniela Zuccarello, Ugo Sorrentino
PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. Genes 15 (1) (2023)
Roberta Giuliano, Anna Maione, Angela Vallefuoco, Ugo Sorrentino, Daniela Zuccarello
Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature. Genes 14 (11) (2023)
Tiziana Persico, Maria Lucrezia Tranquillo, Renato Seracchioli, Daniela Zuccarello, Ugo Sorrentino
PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. Genes 15 (1) (2023)
Tiziana Persico, Maria Lucrezia Tranquillo, Renato Seracchioli, Daniela Zuccarello, Ugo Sorrentino
PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. Genes 15 (1) (2023)
Tiziana Persico, Maria Lucrezia Tranquillo, Renato Seracchioli, Daniela Zuccarello, Ugo Sorrentino
PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the FMR1 Gene. Genes 15 (1) (2023)
Davide Calosci, Lisa Passaglia, Ilaria Gabbiato, Francesca Cartisano, Rebecca Affuso, Ugo Sorrentino, Daniela Zuccarello
Public Awareness and Acceptability of PGT-M in Cancer Predisposition Syndromes. Genes 14 (11) (2023)
Ugo Sorrentino, Caterina Agosto, Franca Benini, Cinzia Bertolin, Matteo Cassina, Luca Bonadies, Francesca Caroppo, Anna Belloni Fortina, Leonardo Salviati
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant. Clinical genetics (2023)
Alessandro Martini, Flavia Sorrentino, Ugo Sorrentino, Matteo Cassina
Genetics & Epigenetics of Hereditary Deafness: An Historical Overview. Audiology research 11 (4) (2021)