Search Results - "Rubinato, Elisa"

New insights on Noonan syndrome's clinical phenotype: a single center retrospective study by Baldo, Francesco, Fachin, Alice, Da Re, Beatrice, Rubinato, Elisa, Bobbo, Marco, Barbi, Egidio

“…Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from…”
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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss by Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

“…Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts,…”
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Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders by Tesolin, Paola, Santin, Aurora, Morgan, Anna, Lenarduzzi, Stefania, Rubinato, Elisa, Girotto, Giorgia, Spedicati, Beatrice

“…Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable…”
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The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population by Spedicati, Beatrice, Santin, Aurora, Nardone, Giuseppe Giovanni, Rubinato, Elisa, Lenarduzzi, Stefania, Graziano, Claudio, Garavelli, Livia, Miccoli, Sara, Bigoni, Stefania, Morgan, Anna, Girotto, Giorgia

“…Hearing loss is the most frequent sensorineural disorder, affecting approximately 1:1000 newborns. Hereditary forms (HHL) represent 50-60% of cases,…”
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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review by Mercati, Oriane, Abi Warde, Marie-Thérèse, Lina-Granade, Geneviève, Rio, Marlène, Heide, Solveig, de Lonlay, Pascale, Ceballos-Picot, Irène, Robert, Matthieu P., Couloigner, Vincent, Beltrand, Jacques, Boddaert, Nathalie, Rodriguez, Diana, Rubinato, Elisa, Lapierre, Jean-Michel, Merlette, Christophe, Sanquer, Sylvia, Rötig, Agnès, Prokisch, Holger, Lyonnet, Stanislas, Loundon, Natalie, Kaplan, Josseline, Bonnefont, Jean-Paul, Munnich, Arnold, Besmond, Claude, Jonard, Laurence, Marlin, Sandrine

“…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…”
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Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report by Caiffa, Thomas, Tessitore, Antimo, Leoni, Loira, Reffo, Elena, Chicco, Daniela, D'Agata Mottolese, Biancamaria, Rubinato, Elisa, Girotto, Giorgia, Lenarduzzi, Stefania, Barbi, Egidio, Bobbo, Marco, Di Salvo, Giovanni

“…Background Left ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep…”
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Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment by Jonard, Laurence, Brotto, Davide, Moreno-Pelayo, Miguel A., del Castillo, Ignacio, Kremer, Hannie, Pennings, Ronald, Caria, Helena, Fialho, Graça, Boudewyns, An, Van Camp, Guy, Ołdak, Monika, Oziębło, Dominika, Deggouj, Naïma, De Siati, Romolo Daniele, Gasparini, Paolo, Girotto, Giorgia, Verstreken, Margriet, Dossena, Silvia, Roesch, Sebastian, Battelino, Saba, Trebušak Podkrajšek, Katarina, Warnecke, Athanasia, Lenarz, Thomas, Lesinski-Schiedat, Anke, Mondain, Michel, Roux, Anne-Françoise, Denoyelle, Françoise, Loundon, Natalie, Serey Gaut, Margaux, Trevisi, Patrizia, Rubinato, Elisa, Martini, Alessandro, Marlin, Sandrine

“…The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug…”
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A Girl with Photosensitivity and Hepatic Steatosis by Pavan, Matteo, MD, Gortani, Giulia, MD, Rubinato, Elisa, MD, Faletra, Flavio, MD, Pastore, Serena, MD, Ventura, Alessandro, MD

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A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta by Rubinato, Elisa, Morgan, Anna, D'Eustacchio, Angela, Pecile, Vanna, Gortani, Giulia, Gasparini, Paolo, Faletra, Flavio

“…Osteogenesis imperfecta (OI) is a hereditary bone disease characterized by decreased bone density and multiple fractures, usually inherited in an autosomal…”
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MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review by Rubinato, Elisa, Rondeau, Sophie, Giuliano, Fabienne, Kossorotoff, Manoelle, Parodi, Marine, Gherbi, Souad, Steffan, Julie, Jonard, Laurence, Marlin, Sandrine

“…Mutations in MED12 gene have been described in association with syndromic and non-syndromic X-linked intellectual disability (XLID). Up to date at least three…”
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Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures by Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia

“…Dual molecular diagnoses are defined as the presence of pathogenic variants at two distinct and independently segregating loci that cause two different…”
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TBL1Y: a new gene involved in syndromic hearing loss by Di Stazio, Mariateresa, Collesi, Chiara, Vozzi, Diego, Liu, Wei, Myers, Mike, Morgan, Anna, D Adamo, Pio Adamo, Girotto, Giorgia, Rubinato, Elisa, Giacca, Mauro, Gasparini, Paolo

“…Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian…”
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Pendred Syndrome, or Not Pendred Syndrome? That Is the Question by Tesolin, Paola, Fiorino, Sofia, Lenarduzzi, Stefania, Rubinato, Elisa, Cattaruzzi, Elisabetta, Ammar, Lydie, Castro, Veronica, Orzan, Eva, Granata, Claudio, Dell'Orco, Daniele, Morgan, Anna, Girotto, Giorgia

“…Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or…”
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Obstructive Jaundice in a 3‐Month‐Old Baby by Amaddeo, Alessandro, Rubinato, Elisa, Schleef, Jurgen, Olenik, Damiana, Giglia, Domenica, Marchetti, Federico, Ventura, Alessandro

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PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss by Girotto, Giorgia, Scheffer, Déborah I., Morgan, Anna, Vozzi, Diego, Rubinato, Elisa, Di Stazio, Mariateresa, Muzzi, Enrico, Pensiero, Stefano, Giersch, Anne B., Corey, David P., Gasparini, Paolo

“…Hereditary Hearing Loss (HHL) is an extremely heterogeneous disorder. Approximately 30 out of 80 known HHL genes are associated with autosomal dominant forms…”
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Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report by Caiffa, Thomas, Tessitore, Antimo, Leoni, Loira, Reffo, Elena, Chicco, Daniela, D'Agata Mottolese, Biancamaria, Rubinato, Elisa, Girotto, Giorgia, Lenarduzzi, Stefania, Barbi, Egidio, Bobbo, Marco, Di Salvo, Giovanni

“…BackgroundLeft ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep…”
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