Zobrazeno 21 - 30
of 71
pro vyhledávání: '"Mathieu Quinodoz"'
Autor:
Mukhtar Ullah, Atta Ur Rehman, Marc Folcher, Adnan Ullah, Faisal Usman, Abdur Rashid, Bilal Khan, Mathieu Quinodoz, Muhammad Ansar, Carlo Rivolta
Publikováno v:
Ophthalmic Research.
Introduction: Retinitis pigmentosa (RP) is a rare degenerative retinal disease caused by mutations in approximately seventy genes. Currently, despite the availability of large-scale DNA sequencing technologies, ~30-40% of patients still cannot be dia
Autor:
Alissa Muller, Jack Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park-Windhol, Beryll Klingler, Jane Matsell, Simon Hostettler, Patricia Galliker, Mert Duman, Yanyan Hou, Pierre Balmer, Tamás Virág, Luis Alberto Barrera, Quan Xu, Dániel Péter Magda, Ferenc Kilin, Arogya Khadka, Mathieu Quinodoz, Pascal W. Hasler, Pierre-Henri Moreau, Lyne Fellmann, Thierry Azoulay, Marco Cattaneo, Simone Picelli, Alice Grison, Cameron S. Cowan, Lucas Janeschitz-Kriegl, Ákos Kusnyerik, Magdalena Renner, Zoltán Zsolt Nagy, Arnold Szabó, Carlo Rivolta, Hendrik P.N. Scholl, David Bryson, Giuseppe Ciaramella, Botond Roska, Bence György
Stargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to loss-of-function mutations in theABCA4gene. We have designed a dual adeno-associated viral vector split-intein a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd497ac7466dc48e5713f90aa2177981
https://doi.org/10.1101/2023.04.17.535579
https://doi.org/10.1101/2023.04.17.535579
Autor:
Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, Beryl Royer-Bertrand, Peter D. Stenson, David N. Cooper, Sheila Unger, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
American journal of human genetics, vol. 109, no. 3, pp. 457-470
We used a machine learning approach to analyze the within-gene distribution of missense variants observed in hereditary conditions and cancer. When applied to 840 genes from the ClinVar database, this approach detected a significant non-random distri
Autor:
Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
Publikováno v:
Human molecular genetics, vol 32, iss 4
The purpose of this paper is to identify likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eecf9b5f20e38556985a642ed4fc37b
https://escholarship.org/uc/item/4z14k3r2
https://escholarship.org/uc/item/4z14k3r2
Autor:
Afia Iqbal, Muhammad Iqbal, Hafiz Muhammad Azhar Baig, Giacomo Calzetti, Muhammad Ansar, Carlo Rivolta, Mathieu Quinodoz, Muhammad Naeem
Publikováno v:
Ophthalmic Research. 65:104-110
Introduction: Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities. Methods: We analyzed four large con
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:
Alexey Koval, Yonika A. Larasati, Mikhail Savitsky, Gonzalo P. Solis, Jean-Marc Good, Mathieu Quinodoz, Carlo Rivolta, Andrea Superti-Furga, Vladimir L. Katanaev
Publikováno v:
Med. 4:311-325.e7
Autor:
Virginie G. Peter, Mathieu Quinodoz, Silvia Sadio, Sebastian Held, Márcia Rodrigues, Marta Soares, Ana Berta Sousa, Luisa Coutinho Santos, Markus Damme, Carlo Rivolta
Publikováno v:
Human Mutation. 43:2326-2327
Autor:
Fabio Candotti, Claudia Poloni, Christophe Bonvin, Belinda Campos-Xavier, Jean-Louis Blouin, Athina Fouriki, Mathieu Quinodoz, Carlo Rivolta, Stéphanie Christen-Zaech, Orbicia Riccio, Armand Bottani, Michael Hofer, Andrea Superti-Furga, Camille Kumps, Maja Beck-Popovic, Virginie G. Peter, Mattia Rizzi, Raffaele Renella, Felicitas Bellutti Enders, Frossard Valérie, Federica Angelini, Isis Atallah, Sheila Unger
Publikováno v:
Clinical Genetics. 99:780-788
Four individuals from two families presented with a multisystemic condition of suspected genetic origin that was diagnosed only after genome analysis. The main phenotypic features were immune system dysregulation (severe immunodeficiency with autoimm
Autor:
Federica Graziola, Viola Alesi, Boris Keren, Bruno Dallapiccola, Alexandra Afenjar, Barbara K. Robens, Andrea Superti-Furga, Andrea Guerin, Antonio Novelli, Mathieu Quinodoz, Maria Lisa Dentici, Alessandro Capuano, Valerio Licursi, Sébastien Lebon, Lorena Travaglini, Annapurna Poduri
Publikováno v:
Journal of Medical Genetics. 59:262-269
BackgroundNext-generation sequencing, combined with international pooling of cases, has impressively enhanced the discovery of genes responsible for Mendelian neurodevelopmental disorders, particularly in individuals affected by clinically undiagnose