Zobrazeno 61 - 70
of 193
pro vyhledávání: '"Carlo Rivolta"'
Autor:
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López Soriano, Eva D’haene, Fadi S. Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A. Bergen, Camiel J. F. Boon, Julie De Zaeytijd, Chris F. Inglehearn, Bohdan Kousal, Bart P. Leroy, Carlo Rivolta, Veronika Vaclavik, Jenneke van den Ende, Mary J. van Schooneveld, José Luis Gómez-Skarmeta, Juan J. Tena, Juan R. Martinez-Morales, Petra Liskova, Kris Vleminckx, Elfride De Baere
North Carolina macular dystrophy (NCMD) is a rare autosomal dominant disease affecting macular development. The disease is caused by non-coding single nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two distinct c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79feee9e3f4666cf8b923858f2090fe3
https://doi.org/10.1101/2022.03.08.481329
https://doi.org/10.1101/2022.03.08.481329
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:
Andrea Grosso, Lawrence A. Yannuzzi, Stephen H. Tsang, Piero Ceruti, David Sarraf, Ehud Zamir, Karolina Kaminska, Mathieu Quinodoz, Antonio Amoroso, Silvia Deaglio, Jasmine H. Francis, Mauro Fioretto, Carlo Rivolta, Giacomo Calzetti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea30eac9d1690afc902615d9408646ca
https://hdl.handle.net/11562/1086166
https://hdl.handle.net/11562/1086166
Autor:
Atta Ur Rehman, Konstantinos Nikopoulos, Mathieu Quinodoz, Theodoros Giannopoulos, Evangelia S Panagiotou, Anastasios G. P. Konstas, Thomas Papathomas, Carlo Rivolta, Stavrenia Koukoula
Publikováno v:
Ophthalmology and Therapy, Vol 9, Iss 3, Pp 677-684 (2020)
Ophthalmology and Therapy
Ophthalmology and Therapy
Introduction Full-thickness macular hole (FTMH) formation is rarely seen in patients with retinitis pigmentosa (RP) and can have an adverse impact on their residual visual function. The underlying mechanisms are unknown, and clinical experience is li
Autor:
Caroline Lang, Patrick Meylan, Carlo Rivolta, Stéphanie Christen-Zaech, Sophie Mermoud, Caroline Gallay, Alexandre Johannsen
Publikováno v:
European Journal of Pediatrics, Vol. 179, No 9 (2020) pp. 1367-1377
The influence of environmental factors on atopic dermatitis (AD) has been investigated in many cross-sectional studies. It remains however unclear if they could influence AD development early in life. This prospective birth cohort study aimed to moni
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
Publikováno v:
Proc Natl Acad Sci U S A
One of the major questions in human genetics is what percentage of individuals in the general population carry a disease-causing mutation. Based on publicly available information on genotypes from six main world populations, we created a database inc
Autor:
Michel Michaelides, Michael E. Cheetham, Marco Aben, Alison J. Hardcastle, Hannie Kremer, Daniele Ottaviani, Stefan Mundlos, Graeme C.M. Black, Susan M Downes, Robert K. Koenekoop, Julio C. Corral-Serrano, Jordi Corominas, Gavin Arno, Andrew R. Webster, Claire E. L. Smith, Uirá Souto Melo, Carlo Rivolta, Suzanne E. de Bruijn, Chris F. Inglehearn, Raj Ramesar, L. Ingeborgh van den Born, Susanne Roosing, Christian Gilissen, Nikolas Pontikos, Musa M. Mhlanga, Jacquie Greenberg, F. Lucy Raymond, Frans P.M. Cremers, Alessia Fiorentino, Timo W. F. Mulders, Stephanie Fanucchi, Silvia Albert, Simon Mead, Lisa Roberts, Michalis Georgiou, George Rebello, Carel B. Hoyng
Publikováno v:
American Journal of Human Genetics, 107, 5, pp. 802-814
American Journal of Human Genetics, 107, 802-814
American Journal of Human Genetics
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American Journal of Human Genetics, 107, 802-814
American Journal of Human Genetics
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
© 2020 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated
Autor:
Belinda Campos-Xavier, Noriko Miyake, Andrea Superti-Furga, Gabriela Ferraz Leal, Mathieu Quinodoz, Sérgio B. Sousa, Elizabeth C. Engle, Virginie G. Peter, Silvio Alessandro Di Gioia, Naomichi Matsumoto, Jorge Pinto-Basto, Carlo Rivolta, Sheila Unger, Frederic Shapiro, Rosanna Pescini Gobert, Eduardo D. Silva, Gabriela Soares
Publikováno v:
Genetics in Medicine
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
Purpose We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with sc
Autor:
Massimo GIRARDIS, Andrea Antinori, Eunate Arana-Arri, Stefania Mantovani, Nadia Harerimana, Carlota Dobaño Lazaro, Elisa Arribas Rodríguez, Maria Teresa La Rovere, Albert Tenesa, Arianna Gabrieli, Elizabeth Atkinson, Chiara Fallerini, David Bernardo, Kai Kisand, Jahad Alghamdi, Alex Soriano, Vorasuk Shotelersuk, Aida Fiz López, Carlo Rivolta, Andrea Ganna, Elena Bargagli, Francesca Fava, Maurizio Bussotti
The Coronavirus Disease 2019 (COVID-19) pandemic continues to pose a major public health threat especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity we for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59fc19f81a4fc57b9894503b945cb22b
https://doi.org/10.1101/2021.11.08.21265944
https://doi.org/10.1101/2021.11.08.21265944
Autor:
Jens S. Andersen, Mathieu Quinodoz, Reem Suleiman, Pernille Martens, Konstantinos Nikopoulos, André Brás Gonçalves, Pietro Farinelli, Carlo Rivolta, Catja Weiss, Sebastian Patzke, Beinta Biskopstø Joensen, Lotte B. Pedersen, Magnus Per Damsø Jeppesen, Sarah Kirstine Hasselbalch, Søren T. Christensen, Signe Krogh Ohlsen
Publikováno v:
Gonçalves, A B, Hasselbalch, S K, Joensen, B B, Patzke, S, Martens, P, Ohlsen, S K, Quinodoz, M, Nikopoulos, K, Suleiman, R, Jeppesen, M P D, Weiss, C, Christensen, S T, Rivolta, C, Andersen, J S, Farinelli, P & Pedersen, L B 2021, ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ', eLife, vol. 10, e63731 . https://doi.org/10.7554/eLife.63731
eLife
eLife, Vol 10 (2021)
Gonçalves, A B, Hasselbalch, S K, Joensen, B B, Patzke, S, Martens, P, Ohlsen, S K, Quinodoz, M, Nikopoulos, K, Suleiman, R, Jeppesen, M P D, Weiss, C, Christensen, S T, Rivolta, C, Andersen, J S, Farinelli, P & Pedersen, L B 2021, ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ', eLife, vol. 10, e63731 . https://doi.org/10.7554/elife.63731
eLife
eLife, Vol 10 (2021)
Gonçalves, A B, Hasselbalch, S K, Joensen, B B, Patzke, S, Martens, P, Ohlsen, S K, Quinodoz, M, Nikopoulos, K, Suleiman, R, Jeppesen, M P D, Weiss, C, Christensen, S T, Rivolta, C, Andersen, J S, Farinelli, P & Pedersen, L B 2021, ' CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels ', eLife, vol. 10, e63731 . https://doi.org/10.7554/elife.63731
CEP78 is a centrosomal protein implicated in ciliogenesis and ciliary length control, and mutations in the CEP78 gene cause retinal cone-rod dystrophy associated with hearing loss. However, the mechanism by which CEP78 affects cilia formation is unkn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3a7d2563e61fcb57025b1d22c78b416
https://findresearcher.sdu.dk:8443/ws/files/185246823/elife_63731_v2.pdf
https://findresearcher.sdu.dk:8443/ws/files/185246823/elife_63731_v2.pdf