Search Results - "Bedoni, Nicola"

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data by Quinodoz, Mathieu, Peter, Virginie G, Bedoni, Nicola, Royer Bertrand, Béryl, Cisarova, Katarina, Salmaninejad, Arash, Sepahi, Neda, Rodrigues, Raquel, Piran, Mehran, Mojarrad, Majid, Pasdar, Alireza, Ghanbari Asad, Ali, Fonseca Vieira Álvares Sousa Ferrand Almeida, Ana Berta, Santos, Maria Luisa, Superti-Furga, Andrea, Rivolta, Carlo

“…© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation,…”
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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies by Rehman, Atta Ur, Sepahi, Neda, Bedoni, Nicola, Ravesh, Zeinab, Salmaninejad, Arash, Cancellieri, Francesca, Peter, Virginie G., Quinodoz, Mathieu, Mojarrad, Majid, Pasdar, Alireza, Asad, Ali Ghanbari, Ghalamkari, Saman, Piran, Mehran, Piran, Mehrdad, Superti-Furga, Andrea, Rivolta, Carlo

“…Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation…”
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Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies by Salmaninejad, Arash, Bedoni, Nicola, Ravesh, Zeinab, Quinodoz, Mathieu, Shoeibi, Nasser, Mojarrad, Majid, Pasdar, Alireza, Rivolta, Carlo

“…Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by…”
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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs by Bedoni, Nicola, Quinodoz, Mathieu, Pinelli, Michele, Cappuccio, Gerarda, Torella, Annalaura, Nigro, Vincenzo, Testa, Francesco, Simonelli, Francesca, Corton, Marta, Lualdi, Susanna, Lanza, Federica, Morana, Giovanni, Ayuso, Carmen, Di Rocco, Maja, Filocamo, Mirella, Banfi, Sandro, Brunetti-Pierri, Nicola, Superti-Furga, Andrea, Rivolta, Carlo

“…Abstract We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously…”
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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice by Moye, Abigail R, Bedoni, Nicola, Cunningham, Jessica G, Sanzhaeva, Urikhan, Tucker, Eric S, Mathers, Peter, Peter, Virginie G, Quinodoz, Mathieu, Paris, Liliana P, Coutinho-Santos, Luísa, Camacho, Pedro, Purcell, Madeleine G, Winkelmann, Abbie C, Foster, James A, Pugacheva, Elena N, Rivolta, Carlo, Ramamurthy, Visvanathan

“…Cilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class…”
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acr-23 Encodes a monepantel-sensitive channel in Caenorhabditis elegans by Rufener, Lucien, Bedoni, Nicola, Baur, Roland, Rey, Samantha, Glauser, Dominique A, Bouvier, Jacques, Beech, Robin, Sigel, Erwin, Puoti, Alessandro

“…Monepantel is a member of the recently identified class of anthelmintics known as the amino-acetonitrile derivatives (AADs). Monepantel controls all major…”
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A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans by Khateb, Samer, Kowalewski, Björn, Bedoni, Nicola, Damme, Markus, Pollack, Netta, Saada, Ann, Obolensky, Alexey, Ben-Yosef, Tamar, Gross, Menachem, Dierks, Thomas, Banin, Eyal, Rivolta, Carlo, Sharon, Dror

“…Purpose We aimed to identify the cause of disease in patients suffering from a distinctive, atypical form of Usher syndrome. Methods Whole-exome and genome…”
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Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition by El Zaoui, Ikram, Bucher, Maya, Rimoldi, Donata, Nicolas, Michael, Kaya, Gurkan, Pescini Gobert, Rosanna, Bedoni, Nicola, Schalenbourg, Ann, Sakina, Ezziat, Zografos, Leonidas, Leyvraz, Serge, Riggi, Nicolo, Rivolta, Carlo, Moulin, Alexandre P

“…To analyze the activity of mitogen-activated protein kinase (MAPK) and phosphoinositide 3-kinases/mechanistic target of rapamycin (PI3K/mTOR) pathways in…”
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Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome by Gioia, Silvio Alessandro Di, Bedoni, Nicola, von Scheven-Gête, Annette, Vanoni, Federica, Superti-Furga, Andrea, Hofer, Michaël, Rivolta, Carlo

“…PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis…”
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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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The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation by Redin, Claire, Pavlidou, Despina Christina, Bhuiyan, Zahurul, Porretta, Alessandra Pia, Monney, Pierre, Bedoni, Nicola, Maurer, Fabienne, Sekarski, Nicole, Atallah, Isis, Émeline, Davoine, Jeanrenaud, Xavier, Pruvot, Etienne, Fellay, Jacques, Superti-Furga, Andrea

“…MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from…”
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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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acr-23 Encodes a Monepantel-Sensitive Channel in Caenorhabditis elegans: e1003524 by Rufener, Lucien, Bedoni, Nicola, Baur, Roland, Rey, Samantha, Glauser, Dominique A, Bouvier, Jacques, Beech, Robin, Sigel, Erwin, Puoti, Alessandro

“…Monepantel is a member of the recently identified class of anthelmintics known as the amino-acetonitrile derivatives (AADs). Monepantel controls all major…”
Get full text