Zobrazeno 91 - 100
of 193
pro vyhledávání: '"Carlo Rivolta"'
Autor:
Carlo Rivolta, Andrea Superti-Furga, Sébastien Lebon, Beryl Royer-Bertrand, Eliane Roulet-Perez, Mathieu Quinodoz, Claudia Poloni, Filipa Bastos, Heidi Fodstad, Marie-Claude Addor
Publikováno v:
BMC Neurology
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC neurology, vol. 20, no. 1, pp. 17
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC neurology, vol. 20, no. 1, pp. 17
Background A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among t
Autor:
Jan De Bleecker, David Creytens, Matias Wagner, Sophie Walraedt, Christiane Neuhofer, Kirsten A. Wunderlich, Almut Turid Bischoff, Irina Balikova, Gabriele Holtappels, Bart P. Leroy, Pietro Farinelli, Thalia Van Laethem, Konstantinos Nikopoulos, Thomas Klopstock, Frank Peelman, Claus Bachert, Lara Derycke, Nina Lambrechts, Sarah De Jaegere, Jan Gerris, Riet De Rycke, Lotte B. Pedersen, Frauke Coppieters, Carlo Rivolta, Giulia Ascari, Elfride De Baere, Toon Rosseel, Pernille Martens, Brecht Guillemyn, Jo Van Dorpe, Olga Krysko
Publikováno v:
Human mutation 41(5), 998-1011 (2020). doi:10.1002/humu.23993
Human Mutation
HUMAN MUTATION
Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, K A, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, L B, Klopstock, T, Rivolta, C, Leroy, B P, De Baere, E & Coppieters, F 2020, ' Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility ', Human Mutation, vol. 41, no. 5, pp. 998-1011 . https://doi.org/10.1002/humu.23993
Human Mutation
HUMAN MUTATION
Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, K A, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, L B, Klopstock, T, Rivolta, C, Leroy, B P, De Baere, E & Coppieters, F 2020, ' Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility ', Human Mutation, vol. 41, no. 5, pp. 998-1011 . https://doi.org/10.1002/humu.23993
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized the first CEP78 missense vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196f4251d9acc06335a2b6535feb8fc9
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:
Constantin J. Pournaras, Emmanuelle Ranza, Jawad Ahmed, Aziz Qurban, Muhammad Ansar, Maleeha Azam, Omer Farooq, Mateusz Kecik, Sohail A. Paracha, Federico Santoni, Carlo Rivolta, Madhur Shetty, Raheel Qamar, Yacine Aggoun, Periklis Makrythanasis, Ilse Kern, Ariane Malclès, Waqar Muzaffar, Stylianos E. Antonarakis, Justyna Iwaszkiewicz, L. Keith Henry, Liaqat Ali, Muhammad T. Sarwar
Publikováno v:
Human Molecular Genetics, Vol. 29, No 4 (2020) pp. 618-623
In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93236516b8b85a990bb421150e887bff
https://archive-ouverte.unige.ch/unige:142242
https://archive-ouverte.unige.ch/unige:142242
Dystrophic epidermolysis bullosa is a major form of epidermolysis bullosa and may be inherited as an autosomal dominant or recessive trait, with associated mutations in the COL7A1 gene. Here, we describe a consanguineous Pakistani family with four af
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200938a810c751e214e9a0a3412f8db4
Autor:
Koh Hei Sonoda, Taro Kominami, Toru Nakazawa, Carlo Rivolta, Shinji Ueno, Kenichi Kawano, Yoshito Koyanagi, Yasuki Ito, Koji M. Nishiguchi, Hiroko Terasaki
To report the clinical course and high resolution images of autosomal recessive retinitis pigmentosa (RP) associated with a variant of the RP1 gene (c.4052_4053ins328/p.Tyr1352Alafs*9; m1), a high frequency founder variant in Japanese RP patients.; R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::000c98d28ed04df28d53c8377db1836d
https://edoc.unibas.ch/79688/
https://edoc.unibas.ch/79688/
Autor:
Virginie G. Peter, Andrea Superti-Furga, Mathieu Quinodoz, Carlo Rivolta, Atta Ur Rehman, Abdur Rashid, Syed Akhtar Khan
Publikováno v:
Genes
Volume 11
Issue 1
Genes, vol. 11, no. 1
Volume 11
Issue 1
Genes, vol. 11, no. 1
Variants in more than 271 different genes have been linked to hereditary retinal diseases, making comprehensive genomic approaches mandatory for accurate diagnosis. We explored the genetic landscape of retinal disorders in consanguineous families fro
Autor:
Akira Murakami, Yuka Mori, Yasuhiro Ikeda, Fuyuki Miya, Sato Kota, Toru Nakazawa, Koh Hei Sonoda, Yukihide Momozawa, Yoshito Koyanagi, Koji M. Nishiguchi, Misato Tsugita, Masato Akiyama, Tatsuhiko Tsunoda, Shinji Ueno, Yuko Wada, Jo Nishino, Takashi Kamatani, Kosuke Fujita, Hiroshi Kunikata, Hiroko Terasaki, Toru Takigawa, Tatsuro Ishibashi, Carlo Rivolta, Katarina Cisarova, Toshiaki Abe, Motokazu Tsujikawa
To uncover genetic basis of autosomal recessive retinitis pigmentosa (ARRP), we applied 2-step genome-wide association study (GWAS) in 640 Japanese patients prescreened with targeted re-sequencing. Meta-GWAS identified three independent peaks atP< 5.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50733af01fbda3527807c26c3c2c003
Autor:
Atta Ur, Rehman, Virginie G, Peter, Mathieu, Quinodoz, Abdur, Rashid, Syed Akhtar, Khan, Andrea, Superti-Furga, Carlo, Rivolta
Publikováno v:
Genes
Variants in more than 271 different genes have been linked to hereditary retinal diseases, making comprehensive genomic approaches mandatory for accurate diagnosis. We explored the genetic landscape of retinal disorders in consanguineous families fro
Autor:
Carlo Rivolta, E. Roulet, Beryl Royer-Bertrand, Andrea Superti-Furga, Mathieu Quinodoz, F. Bastos, Sébastien Lebon, Marie-Claude Addor, Heidi Fodstad
Publikováno v:
Neuropediatrics. 49:S1-S12