Výsledky vyhledávání - "Elisa Rubinato"

Akademický článek

Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders

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

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Akademický článek

New insights on Noonan syndrome’s clinical phenotype: a single center retrospective study

Autor: Francesco Baldo, Alice Fachin, Beatrice Da Re, Elisa Rubinato, Marco Bobbo, Egidio Barbi

Publikováno v: BMC Pediatrics, Vol 22, Iss 1, Pp 1-8 (2022)

Abstract Background Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from other syndromes, its diagnosis can be challenging and its prevalence in th

Externí odkaz: https://doaj.org/article/a1e67435f6bd4d43877dbc9b1307a7c4

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Akademický článek

Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report

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

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Akademický článek

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

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

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Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

Autor: Beatrice Spedicati, Anna Morgan, Giulia Pianigiani, Luciana Musante, Elisa Rubinato, Aurora Santin, Giuseppe Giovanni Nardone, Flavio Faletra, Giorgia Girotto

Publikováno v: Genes; Volume 13; Issue 11; Pages: 2023

Dual molecular diagnoses are defined as the presence of pathogenic variants at two distinct and independently segregating loci that cause two different Mendelian conditions. In this study, we report the identification of double genetic disorders in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3424c2cc6c8c88b70eb9457cab761719
https://hdl.handle.net/11368/3034240

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Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

Autor: Giorgia Girotto, Daniele Dell'Orco, Anna Morgan, Paola Tesolin, Elisa Rubinato, Lydie Ammar, Claudio Granata, Eva Orzan, Stefania Lenarduzzi, Sofia Fiorino, Elisabetta Cattaruzzi, Veronica Castro

Publikováno v: Genes, Vol 12, Iss 1569, p 1569 (2021)
Genes
Volume 12
Issue 10

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::5755daf18d83ba00688a60d0ea122d15
https://www.mdpi.com/2073-4425/12/10/1569

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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104033-. ⟨10.1016/j.ejmg.2020.104033⟩

We describe two sporadic and two familial cases with loss-of-function variants in PRPS1, which is located on the X chromosome and encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). We illustrate the clinical variability associated with decrea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4b3f120bbff9b00c97b9b8bdaccaa8
https://hal.archives-ouvertes.fr/hal-03491518

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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss

Autor: Navaneethakrishnan Krishnamoorthy, Elisa Rubinato, Martina La Bianca, Paolo Gasparini, Umberto Ambrosetti, Diego Vozzi, Annamaria Franzè, Dragana Vuckovic, Giorgia Girotto, Mariateresa Di Stazio, Pierangela Castorina, Stefania Cappellani, Anna Morgan

Publikováno v: European Journal of Human Genetics

Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes and ARHL genetic risk factors still need to be identified. To fill thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2bb0c752abeb137a4c61cfc7cb6b42
http://hdl.handle.net/11368/2928872

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TBL1Y: a new gene involved in syndromic hearing loss

Autor: Paolo Gasparini, Michael P. Myers, Anna Morgan, Pio Adamo D′Adamo, Wei Liu, Diego Vozzi, Mauro Giacca, Giorgia Girotto, Chiara Collesi, Elisa Rubinato, Mariateresa Di Stazio

Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c147e428afb53187105779f63e3edb7
http://hdl.handle.net/11368/2930290

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