Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Stefania Lenarduzzi"'
Autor:
Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati
Publikováno v:
Audiology Research, Vol 13, Iss 6, Pp 989-995 (2023)
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural and mental disorders in USH patients ha
Externí odkaz:
https://doaj.org/article/893f3b8dfeb74e40bc4043078ccd565d
Autor:
Stefania Lenarduzzi, Beatrice Spedicati, Beatrice Alessandrini, Paola Tesolin, Alessia Paldino, Marta Gigli, Gianfranco Sinagra, Paolo Gasparini, Matteo Dal Ferro, Giorgia Girotto
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)
Abstract Background Hereditary cardiovascular diseases comprise several different entities. In this study, we focused on cardiomyopathies (i.e., hypertrophic, dilated, arrhythmogenic, and left ventricular non‐compaction), channelopathies (i.e., Bru
Externí odkaz:
https://doaj.org/article/1a864837196843758670c4c862d40d1a
Autor:
Thomas Caiffa, Antimo Tessitore, Loira Leoni, Elena Reffo, Daniela Chicco, Biancamaria D'Agata Mottolese, Elisa Rubinato, Giorgia Girotto, Stefania Lenarduzzi, Egidio Barbi, Marco Bobbo, Giovanni Di Salvo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundLeft ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) is a cardiac ion channelopathy presenting with a
Externí odkaz:
https://doaj.org/article/9ac5dd9f1a3d401c9050575d71b10466
Autor:
Aurora Santin, Beatrice Spedicati, Anna Morgan, Stefania Lenarduzzi, Paola Tesolin, Giuseppe Giovanni Nardone, Daniela Mazzà, Giovanni Di Lorenzo, Federico Romano, Francesca Buonomo, Alessandro Mangogna, Maria Pina Concas, Gabriella Zito, Giuseppe Ricci, Giorgia Girotto
Publikováno v:
Biomedicines, Vol 11, Iss 8, p 2122 (2023)
Endometriosis (EM) is a common multifactorial gynaecological disorder. Although Genome-Wide Association Studies have largely been employed, the current knowledge of the genetic mechanisms underlying EM is far from complete, and other approaches are n
Externí odkaz:
https://doaj.org/article/ef49f382ccb44ad0a6ab2c8ddaf4a7e2
Autor:
Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, Elisa Rubinato, Stefania Lenarduzzi, Claudio Graziano, Livia Garavelli, Sara Miccoli, Stefania Bigoni, Anna Morgan, Giorgia Girotto
Publikováno v:
Biomedicines, Vol 11, Iss 3, p 703 (2023)
Hearing loss is the most frequent sensorineural disorder, affecting approximately 1:1000 newborns. Hereditary forms (HHL) represent 50–60% of cases, highlighting the relevance of genetic testing in deaf patients. HHL is classified as non-syndromic
Externí odkaz:
https://doaj.org/article/247d10c972d24626a14760225f8bc478
Autor:
Paola Tesolin, Sofia Fiorino, Stefania Lenarduzzi, Elisa Rubinato, Elisabetta Cattaruzzi, Lydie Ammar, Veronica Castro, Eva Orzan, Claudio Granata, Daniele Dell’Orco, Anna Morgan, Giorgia Girotto
Publikováno v:
Genes, Vol 12, Iss 10, p 1569 (2021)
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patient
Externí odkaz:
https://doaj.org/article/bacd21e274474bcbad7f791c3b3d41d0
Autor:
Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, Vanna Pecile, Marcello Morgutti, Eva Orzan, Sara Ghiselli, Umberto Ambrosetti, Marco Brumat, Poornima Gajendrarao, Martina La Bianca, Flavio Faletra, Enrico Grosso, Fabio Sirchia, Alberto Sensi, Claudio Graziano, Marco Seri, Paolo Gasparini, Giorgia Girotto
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Hereditary hearing loss (HHL) is a common disorder characterized by a huge genetic heterogeneity. The definition of a correct molecular diagnosis is essential for proper genetic counseling, recurrence risk estimation, and therapeutic options. From 20
Externí odkaz:
https://doaj.org/article/4aac6c1292fa4eeebf88317e738de9f8
Autor:
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
Publikováno v:
Genes, Vol 11, Iss 11, p 1237 (2020)
Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the impor
Externí odkaz:
https://doaj.org/article/78229e595e95426385609856ebf2839a
Autor:
Stefano, D'Errico, Pier Riccardo, Bergamini, Paolo, Fattorini, Fabrizio, Zanconati, Rossana, Bussani, Maria Assunta, Cova, Lorenzo, Pagnan, Manuel, Belgrano, Paolo, Gasparini, Giorgia, Girotto, Stefania, Lenarduzzi, Riccardo, Addobbati, Serena, Rakar, Aneta, Aleksova, Matteo, Dal Ferro, Massimo, Zecchin, Gianfranco, Sinagra
Publikováno v:
Giornale italiano di cardiologia (2006). 23(11)
With the regional law n. 26 of December 30, 2020, the Friuli Venezia Giulia Region wanted to promote the establishment of the Regional Register of Sudden Cardiac Death, with the aim of favoring the study of all those deaths that occurred suddenly and
Autor:
Alessia Paldino, Matteo Dal Ferro, Davide Stolfo, Ilaria Gandin, Kristen Medo, Sharon Graw, Marta Gigli, Giulia Gagno, Denise Zaffalon, Matteo Castrichini, Marco Masè, Antonio Cannatà, Francesca Brun, Garrett Storm, Giovanni Maria Severini, Stefania Lenarduzzi, Giorgia Girotto, Paolo Gasparini, Francesca Bortolotti, Mauro Giacca, Serena Zacchigna, Marco Merlo, Matthew R.G. Taylor, Luisa Mestroni, Gianfranco Sinagra
Publikováno v:
Journal of the American College of Cardiology. 80(21)
Background: Diverse genetic backgrounds often lead to phenotypic heterogeneity in cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on the analysis of a single phenotype, and the diagnostic and prognostic features of