Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Nicola Bedoni"'
Autor:
Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or
Externí odkaz:
https://doaj.org/article/45ebab2103354052b1c5d15d59bd2b73
Autor:
Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of ho
Externí odkaz:
https://doaj.org/article/e12a3800741f47d7be5c3348cd65ae5a
Autor:
Abigail R Moye, Nicola Bedoni, Jessica G Cunningham, Urikhan Sanzhaeva, Eric S Tucker, Peter Mathers, Virginie G Peter, Mathieu Quinodoz, Liliana P Paris, Luísa Coutinho-Santos, Pedro Camacho, Madeleine G Purcell, Abbie C Winkelmann, James A Foster, Elena N Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy
Publikováno v:
PLoS Genetics, Vol 15, Iss 8, p e1008315 (2019)
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 of genetic disorders, known collectively as ciliopathies. Many strides have been made towar
Externí odkaz:
https://doaj.org/article/480975d5e12444a18eb9f8d47c79cac6
Autor:
Lucien Rufener, Nicola Bedoni, Roland Baur, Samantha Rey, Dominique A Glauser, Jacques Bouvier, Robin Beech, Erwin Sigel, Alessandro Puoti
Publikováno v:
PLoS Pathogens, Vol 9, Iss 8, p e1003524 (2013)
Monepantel is a member of the recently identified class of anthelmintics known as the amino-acetonitrile derivatives (AADs). Monepantel controls all major gastro-intestinal nematodes in sheep including those that are resistant to the classical anthel
Externí odkaz:
https://doaj.org/article/7666d14c819444b495de9c1727116a05
Autor:
Ali Ghanbari Asad, Alireza Pasdar, Andrea Superti-Furga, Neda Sepahi, Zeinab Ravesh, Francesca Cancellieri, Saman Ghalamkari, Mathieu Quinodoz, Mehrdad Piran, Virginie G. Peter, Arash Salmaninejad, Mehran Piran, Nicola Bedoni, Carlo Rivolta, Atta Ur Rehman, Majid Mojarrad
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports
Scientific Reports
Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or syndromic
Autor:
Claire Redin, Despina Christina Pavlidou, Zahurul Bhuiyan, Alessandra Pia Porretta, Pierre Monney, Nicola Bedoni, Fabienne Maurer, Nicole Sekarski, Isis Atallah, Davoine Émeline, Xavier Jeanrenaud, Etienne Pruvot, Jacques Fellay, Andrea Superti-Furga
Publikováno v:
European journal of medical genetics, vol. 65, no. 12, pp. 104627
MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these varia
Autor:
Carlo Rivolta, Béryl Royer Bertrand, Virginie G. Peter, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Luisa Coutinho Santos, Alireza Pasdar, Katarina Cisarova, Mehran Piran, Mathieu Quinodoz, Nicola Bedoni, Ali Ghanbari Asad, Andrea Superti-Furga, Majid Mojarrad, Ana Berta Sousa
Publikováno v:
Nature communications, vol. 12, no. 1, pp. 518
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
© The Author(s) 2021. Open AccessThis article is licensed under a Creative CommonsAttribution 4.0 International License, which permits use, sharing,adaptation, distribution and reproduction in any medium or format, as long as you giveappropriate cre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a2c3b02407893cc63692f43ede378f
https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB
https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB
Autor:
Majid Mojarrad, Nasser Shoeibi, Carlo Rivolta, Nicola Bedoni, Zeinab Ravesh, Mathieu Quinodoz, Alireza Pasdar, Arash Salmaninejad
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-7 (2020)
Scientific Reports
Scientific Reports
Inherited retinal dystrophies (IRDs), displaying pronounced genetic and clinical heterogeneity, comprise of a broad range of diseases characterized by progressive retinal cell death and gradual loss of vision. By the combined use of whole exome seque
Autor:
Andrea Superti-Furga, Carlo Rivolta, Francesco Testa, Nicola Bedoni, Marta Corton, Federica Lanza, Nicola Brunetti-Pierri, Mirella Filocamo, Francesca Simonelli, Mathieu Quinodoz, Susanna Lualdi, Giovanni Morana, Sandro Banfi, Annalaura Torella, Vincenzo Nigro, Carmen Ayuso, Maja Di Rocco, Michele Pinelli, Tudp, Gerarda Cappuccio
We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously unrecognized autosomal recessive disorder that included a severe form of spondylo-epiphyseal dysplasia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d912b3bc5abf7b210cf70941e50d99b6
Autor:
Alexandre Moulin, Styliani V. Blazaki, Ikram El Zaoui, Yvan Arsenijevic, Basilio Giangreco, Konstantinos Nikopoulos, Sotiris Plainis, Katarina Cisarova, Ulrika Kjellström, Pietro Farinelli, Shazia Micheal, Frans P.M. Cremers, Silvio Alessandro Di Gioia, Sara Balzano, Andrea Messina, Martial Mbefo, Marius Ueffing, Sarah Decembrini, Muhammad Imran Khan, Sten Andréasson, Carlo Rivolta, Chrysanthi Tsika, Beryl Royer-Bertrand, Nicola Bedoni, Miltiadis K. Tsilimbaris, Karsten Boldt, Ronald Roepman
Publikováno v:
American Journal of Human Genetics, 99, 770-6
American journal of human genetics, vol. 99, no. 3, pp. 770-776
American Journal of Human Genetics, 99, 3, pp. 770-6
American journal of human genetics, vol. 99, no. 3, pp. 770-776
American Journal of Human Genetics, 99, 3, pp. 770-6
Item does not contain fulltext Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other r