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Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. [electronic resource] by
- Bastos, Filipa
- Quinodoz, Mathieu
- Addor, Marie-Claude
- Royer-Bertrand, Beryl
- Fodstad, Heidi
- Rivolta, Carlo
- Poloni, Claudia
- Superti-Furga, Andrea
- Roulet-Perez, Eliane
- Lebon, Sebastien
Producer: 20200409
In:
BMC neurology vol. 20
Availability: No items available.
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Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis. [electronic resource] by
- Fregni, Giulia
- Quinodoz, Mathieu
- Möller, Emely
- Vuille, Joanna
- Galland, Sabine
- Fusco, Carlo
- Martin, Patricia
- Letovanec, Igor
- Provero, Paolo
- Rivolta, Carlo
- Riggi, Nicolo
- Stamenkovic, Ivan
Producer: 20180905
In:
EBioMedicine vol. 29
Availability: No items available.
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Herpes simplex encephalitis in adult patients with MASP-2 deficiency. [electronic resource] by
- Bibert, Stéphanie
- Piret, Jocelyne
- Quinodoz, Mathieu
- Collinet, Emilie
- Zoete, Vincent
- Michielin, Olivier
- Menasria, Rafik
- Meylan, Pascal
- Bihl, Titus
- Erard, Véronique
- Fellmann, Florence
- Rivolta, Carlo
- Boivin, Guy
- Bochud, Pierre-Yves
Producer: 20200305
In:
PLoS pathogens vol. 15
Availability: No items available.
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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. [electronic resource] by
- Peter, Virginie G
- Quinodoz, Mathieu
- Pinto-Basto, Jorge
- Sousa, Sergio B
- Di Gioia, Silvio Alessandro
- Soares, Gabriela
- Ferraz Leal, Gabriela
- Silva, Eduardo D
- Pescini Gobert, Rosanna
- Miyake, Noriko
- Matsumoto, Naomichi
- Engle, Elizabeth C
- Unger, Sheila
- Shapiro, Frederic
- Superti-Furga, Andrea
- Rivolta, Carlo
- Campos-Xavier, Belinda
Producer: 20200501
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
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Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. [electronic resource] 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
Producer: 20200107
In:
PLoS genetics vol. 15
Availability: No items available.
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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. [electronic resource] by
- Astuti, Galuh D N
- van den Born, L Ingeborgh
- Khan, M Imran
- Hamel, Christian P
- Bocquet, Béatrice
- Manes, Gaël
- Quinodoz, Mathieu
- Ali, Manir
- Toomes, Carmel
- McKibbin, Martin
- El-Asrag, Mohammed E
- Haer-Wigman, Lonneke
- Inglehearn, Chris F
- Black, Graeme C M
- Hoyng, Carel B
- Cremers, Frans P M
- Roosing, Susanne
Publication details: Genes Jan 2018
In:
Genes vol. 9
Availability: No items available.
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12.
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. [electronic resource] by
- Nikopoulos, Konstantinos
- Cisarova, Katarina
- Quinodoz, Mathieu
- Koskiniemi-Kuendig, Hanna
- Miyake, Noriko
- Farinelli, Pietro
- Rehman, Atta Ur
- Khan, Muhammad Imran
- Prunotto, Andrea
- Akiyama, Masato
- Kamatani, Yoichiro
- Terao, Chikashi
- Miya, Fuyuki
- Ikeda, Yasuhiro
- Ueno, Shinji
- Fuse, Nobuo
- Murakami, Akira
- Wada, Yuko
- Terasaki, Hiroko
- Sonoda, Koh-Hei
- Ishibashi, Tatsuro
- Kubo, Michiaki
- Cremers, Frans P M
- Kutalik, Zoltán
- Matsumoto, Naomichi
- Nishiguchi, Koji M
- Nakazawa, Toru
- Rivolta, Carlo
Producer: 20190827
In:
Nature communications vol. 10
Availability: No items available.
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