Search Results - "Balzano, Sara"

NANS-mediated synthesis of sialic acid is required for brain and skeletal development by van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier-Daire, Valérie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heise, Torben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

“…Andrea Superti-Furga, Ron Wevers, Clara van Karnebeek, Luisa Bonafé and colleagues identify mutations in NANS , which encodes the sialic acid synthase, in nine…”
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Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator by Allou, Lila, Balzano, Sara, Magg, Andreas, Quinodoz, Mathieu, Royer-Bertrand, Beryl, Schöpflin, Robert, Chan, Wing-Lee, Speck-Martins, Carlos E., Carvalho, Daniel Rocha, Farage, Luciano, Lourenço, Charles Marques, Albuquerque, Regina, Rajagopal, Srilakshmi, Nampoothiri, Sheela, Campos-Xavier, Belinda, Chiesa, Carole, Niel-Bütschi, Florence, Wittler, Lars, Timmermann, Bernd, Spielmann, Malte, Robson, Michael I., Ringel, Alessa, Heinrich, Verena, Cova, Giulia, Andrey, Guillaume, Prada-Medina, Cesar A., Pescini-Gobert, Rosanna, Unger, Sheila, Bonafé, Luisa, Grote, Phillip, Rivolta, Carlo, Mundlos, Stefan, Superti-Furga, Andrea

“…Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks 1 , but the exact nature and extent of their involvement in human…”
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Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression by Ruberto, Francesco Paolo, Balzano, Sara, Namburi, Prasanthi, Kimchi, Adva, Pescini-Gobert, Rosanna, Obolensky, Alexey, Banin, Eyal, Ben-Yosef, Tamar, Sharon, Dror, Rivolta, Carlo

“…Heterozygous mutations in the gene , encoding a pre-mRNA splicing factor, cause autosomal dominant retinitis pigmentosa (adRP) with reduced penetrance. At the…”
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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects by Nikopoulos, Konstantinos, Farinelli, Pietro, Giangreco, Basilio, Tsika, Chrysanthi, Royer-Bertrand, Beryl, Mbefo, Martial K., Bedoni, Nicola, Kjellström, Ulrika, El Zaoui, Ikram, Di Gioia, Silvio Alessandro, Balzano, Sara, Cisarova, Katarina, Messina, Andrea, Decembrini, Sarah, Plainis, Sotiris, Blazaki, Styliani V., Khan, Muhammad Imran, Micheal, Shazia, Boldt, Karsten, Ueffing, Marius, Moulin, Alexandre P., Cremers, Frans P.M., Roepman, Ronald, Arsenijevic, Yvan, Tsilimbaris, Miltiadis K., Andréasson, Sten, Rivolta, Carlo

“…Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and…”
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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility by Bedoni, Nicola, Haer-Wigman, Lonneke, Vaclavik, Veronika, Tran, Viet H, Farinelli, Pietro, Balzano, Sara, Royer-Bertrand, Beryl, El-Asrag, Mohammed E, Bonny, Olivier, Ikonomidis, Christos, Litzistorf, Yan, Nikopoulos, Konstantinos, Yioti, Georgia G, Stefaniotou, Maria I, McKibbin, Martin, Booth, Adam P, Ellingford, Jamie M, Black, Graeme C, Toomes, Carmel, Inglehearn, Chris F, Hoyng, Carel B, Bax, Nathalie, Klaver, Caroline C W, Thiadens, Alberta A, Murisier, Fabien, Schorderet, Daniel F, Ali, Manir, Cremers, Frans P M, Andréasson, Sten, Munier, Francis L, Rivolta, Carlo

“…Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and…”
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Insulin causes endothelial dysfunction in humans : Sites and mechanisms by ARCARO, Guido, CRETTI, Anna, BALZANO, Sara, LECHI, Alessandro, MUGGEO, Michele, BONORA, Enzo, BONADONNA, Riccardo C

“…Insulin resistance is often accompanied by hyperinsulinemia and may predispose to atherosclerosis. Endothelium plays a central role in atherogenesis. The in…”
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Correlation Between Baseline Characteristics and Clinical Outcomes in a Large Population of Diabetes Patients Treated with Liraglutide in a Real-World Setting in Italy by Lapolla, Annunziata, Frison, Vera, Bettio, Michela, Pos, Michela Dal, Rocchini, Paola, Panebianco, Giuseppe, Tadiotto, Federica, Tos, Virgilio Da, D׳Ambrosio, Michele, Marangoni, Alberto, Ferrari, Maria, Pianta, Alessandro, Balzano, Sara, Confortin, Loris, Lamonica, Mario, Marin, Narciso, Strazzabosco, Marco, Brun, Elisabetta, Mesturino, Chiara Alberta, Simoncini, Maria, Zen, Francesco, Bax, Giuseppe, Bonsembiante, Barbara, Cardone, Claudio, Dal Frà, Maria Grazia, Gallo, Alessandra, Masin, Michela, Piarulli, Francesco, Sartore, Giovanni, Simioni, Natalino

“…Treatment with liraglutide in randomized controlled trials is associated with significant reductions in glycated hemoglobin (HbA1c) and weight loss in type 2…”
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Clinical Features, Cardiovascular Risk Profile, and Therapeutic Trajectories of Patients with Type 2 Diabetes Candidate for Oral Semaglutide Therapy in the Italian Specialist Care by Morieri, Mario Luca, Candido, Riccardo, Frontoni, Simona, Disoteo, Olga, Solini, Anna, Fadini, Gian Paolo

“…Introduction This study aimed to address therapeutic inertia in the management of type 2 diabetes (T2D) by investigating the potential of early treatment with…”
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Clinical Impact of 5 Years of Liraglutide Treatment on Cardiovascular Risk Factors in Patients with Type 2 Diabetes Mellitus in a Real-Life Setting in Italy: An Observational Study by Frison, Vera, Simioni, Natalino, Marangoni, Alberto, Balzano, Sara, Vinci, Carmela, Zenari, Luciano, De Moliner, Lorena, Tadiotto, Federica, D’Ambrosio, Michele, Confortin, Loris, Marin, Narciso, Lombardi, Simonetta, Costa, Silvana, Prosperini, Giuseppe, Lapolla, Annunziata

“…Introduction Based on existing data regarding the durability of liraglutide in type 2 diabetes, this study aimed to assess its long-term effectiveness at…”
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Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development by van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier, Valerie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heisse, Thorben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

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Erratum: Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development by van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier, Valerie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heisse, Thorben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

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Correction: Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development by van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier, Valerie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heisse, Thorben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

“…Nat. Genet. 48, 777–784 (2016); published online 23 May 2016; corrected after print 6 March 2017 In the version of this article initially published, the name…”
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Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation by Genesio, Rita, Mormile, Angela, Licenziati, Maria Rosaria, De Brasi, Daniele, Leone, Graziella, Balzano, Sara, Izzo, Antonella, Bonfiglio, Ferdinando, Conti, Anna, Fioretti, Gennaro, Lenta, Selvaggia, Poggiano, Maria Rita, Siani, Paolo, Nitsch, Lucio

“…Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the initial…”
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Correlation Between Baseline Characteristics and Clinical Outcomes in a Large Populati on of Diabetes Patients Treated with Liraglutide in a Real-World Setting in Italy by Lapolla, Annunziata, MD, Frison, Vera, MD, Bettio, Michela, MD, Pos, Michela Dal, MD, Rocchini, Paola, MD, Panebianco, Giuseppe, MD, Tadiotto, Federica, MD, Tos, Virgilio Da, MD, D׳Ambrosio, Michele, MD, Marangoni, Alberto, MD, Ferrari, Maria, MD, Pianta, Alessandro, MD, Balzano, Sara, MD, Confortin, Loris, MD, Lamonica, Mario, MD, Marin, Narciso, MD, Strazzabosco, Marco, MD, Brun, Elisabetta, MD, Mesturino, Chiara Alberta, MD, Simoncini, Maria, MD, Zen, Francesco, MD, Bax, Giuseppe, MD, Bonsembiante, Barbara, MD, Cardone, Claudio, MD, Dal Frà, Maria Grazia, MD, Gallo, Alessandra, MD, Masin, Michela, MD, Piarulli, Francesco, MD, Sartore, Giovanni, MD, Simioni, Natalino, MD

“…Abstract Purpose Treatment with liraglutide in randomized controlled trials is associated with significant reductions in glycated hemoglobin (HbA1c ) and…”
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Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation by Genesio, Rita, Mormile, Angela, Licenziati, Maria Rosaria, De Brasi, Daniele, Leone, Graziella, Balzano, Sara, Izzo, Antonella, Bonfiglio, Ferdinando, Conti, Anna, Fioretti, Gennaro, Lenta, Selvaggia, Poggiano, Maria Rita, Siani, Paolo, Nitsch, Lucio

“…BACKGROUNDPrimary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea), a decrease in the…”
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