Search Results - "Barati, Shila"

Investigation of Genetic Variations of IL6 and IL6R as Potential Prognostic and Pharmacogenetics Biomarkers: Implications for COVID-19 and Neuroinflammatory Disorders by Strafella, Claudia, Caputo, Valerio, Termine, Andrea, Barati, Shila, Caltagirone, Carlo, Giardina, Emiliano, Cascella, Raffaella

“…In the present study, we investigated the distribution of genetic variations in and genes, which may be employed as prognostic and pharmacogenetic biomarkers…”
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Longitudinal Structure-Function Evaluation in a Patient with CDHR1 -Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling by Cusumano, Andrea, Falsini, Benedetto, D'Apolito, Fabian, D'Ambrosio, Michele, Sebastiani, Jacopo, Cascella, Raffaella, Barati, Shila, Giardina, Emiliano

“…Retinal dystrophies related to damaging variants in the cadherin-related family member 1 ( ) gene are rare and phenotypically heterogeneous. Here, we report a…”
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NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants by Michelini, Sandro, Ricci, Maurizio, Serrani, Roberta, Barati, Shila, Kenanoglu, Sercan, Veselenyiova, Dominika, Kurti, Danjela, Baglivo, Mirko, Basha, Syed Hussain, Priya, Sasi, Dautaj, Astrit, Dundar, Munis, Krajcovic, Juraj, Bertelli, Matteo

“…Background We developed a Next‐Generation‐Sequencing (NGS) protocol to screen the most frequent genetic variants related to lymphedema and a group of candidate…”
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Two rare PROX1 variants in patients with lymphedema by Ricci, Maurizio, Amato, Bruno, Barati, Shila, Compagna, Rita, Veselenyiova, Dominika, Kenanoglu, Sercan, Stuppia, Liborio, Beccari, Tommaso, Baglivo, Mirko, Kurti, Danjela, Krajcovic, Juraj, Serrani, Roberta, Dundar, Munis, Basha, Syed H., Chiurazzi, Pietro, Bertelli, Matteo

“…Background The PROX1 gene is specifically expressed in a subpopulation of endothelial cells that, by budding and sprouting, give rise to the lymphatic system…”
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Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications by Strafella, Claudia, Caputo, Valerio, Termine, Andrea, Barati, Shila, Gambardella, Stefano, Borgiani, Paola, Caltagirone, Carlo, Novelli, Giuseppe, Giardina, Emiliano, Cascella, Raffaella

“…Angiotensin-converting enzyme 2 (ACE2) has been recognized as the entry receptor of the novel severe acute respiratory syndrome coronavirus 2 (SARS-Cov-2)…”
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Longitudinal Structure–Function Evaluation in a Patient with ICDHR1/I-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling by Cusumano, Andrea, Falsini, Benedetto, D’Apolito, Fabian, D’Ambrosio, Michele, Sebastiani, Jacopo, Cascella, Raffaella, Barati, Shila, Giardina, Emiliano

“…Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous…”
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Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from ADH1B, CYP1A2 and MTHFR by Barati, Shila, Fabrizio, Carlo, Strafella, Claudia, Cascella, Raffaella, Caputo, Valerio, Megalizzi, Domenica, Peconi, Cristina, Mela, Julia, Colantoni, Luca, Caltagirone, Carlo, Termine, Andrea, Giardina, Emiliano

“…In the present review, the main features involved in the susceptibility and progression of neurodegenerative disorders (NDDs) have been discussed, with the…”
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Genetic analysis of intellectual disability and autism by Chiurazzi, Pietro, Kiani, Aysha Karim, Miertus, Jan, Barati, Shila, Manara, Elena, Paolacci, Stefano, Stuppia, Liborio, Gurrieri, Fiorella, Bertelli, Matteo

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Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from IADH1B/I, ICYP1A2/I and IMTHFR/I by Barati, Shila, Fabrizio, Carlo, Strafella, Claudia, Cascella, Raffaella, Caputo, Valerio, Megalizzi, Domenica, Peconi, Cristina, Mela, Julia, Colantoni, Luca, Caltagirone, Carlo, Termine, Andrea, Giardina, Emiliano

“…In the present review, the main features involved in the susceptibility and progression of neurodegenerative disorders (NDDs) have been discussed, with the…”
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Non-syndromic monogenic male infertility by Guerri, Giulia, Maniscalchi, Tiziana, Barati, Shila, Busetto, Gian Maria, Del Giudice, Francesco, De Berardinis, Ettore, Cannarella, Rossella, Calogero, Aldo Eugenio, Bertelli, Matteo

“…Infertility is a widespread clinical problem affecting 8-12% of couples worldwide. Of these, about 30% are diagnosed with idiopathic infertility since no…”
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Genetic syndromes with localized subcutaneous fat tissue accumulation by Precone, Vincenza, Barati, Shila, Paolacci, Stefano, Salgarello, Marzia, Visconti, Giuseppe, Gentileschi, Stefano, Guerri, Giulia, Gagliardi, Lucilla, Aquilanti, Barbara, Matera, Giuseppina, Velluti, Valeria, Miggiano, Giacinto Abele Donato, Herbst, Karen L., Bertelli, Matteo

“…Syndromes with localized accumulation of subcutaneous fatty tissue belong to a group of genetically and phenotypically heterogeneous disorders. These diseases…”
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Syndromic infertility by Guerri, Giulia, Maniscalchi, Tiziana, Barati, Shila, Dhuli, Kristjana, Busetto, Gian Maria, Del Giudice, Francesco, De Berardinis, Ettore, De Antoni, Luca, Miertus, Jan, Bertelli, Matteo

“…Infertility due to genetic mutations that cause other defects, besides infertility, is defined as syndromic. Here we describe three of these disorders for…”
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Cardiomyopathies by Precone, Vincenza, Krasi, Geraldo, Guerri, Giulia, Madureri, Alberto, Piazzani, Mariangela, Michelini, Sandro, Barati, Shila, Maniscalchi, Tiziana, Bressan, Simone, Bertelli, Matteo

“…The most common cardiomyopathies often present to primary care physicians with similar symptoms, despite the fact that they involve a variety of phenotypes and…”
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Non-syndromic monogenic female infertility by Guerri, Giulia, Maniscalchi, Tiziana, Barati, Shila, Gerli, Sandro, Di Renzo, Gian Carlo, Della Morte, Chiara, Marceddu, Giuseppe, Casadei, Arianna, Laganà, Antonio Simone, Sturla, Davide, Ghezzi, Fabio, Garzon, Simone, Unfer, Vittorio, Bertelli, Matteo

“…Infertility is a significant clinical problem. It affects 8-12% of couples worldwide, about 30% of whom are diagnosed with idiopathic infertility (infertility…”
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Longitudinal Structure-Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling by Cusumano, Andrea, Falsini, Benedetto, D'Apolito, Fabian, D'Ambrosio, Michele, Sebastiani, Jacopo, Cascella, Raffaella, Barati, Shila, Giardina, Emiliano

“…BACKGROUNDRetinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous…”
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