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Year | Number of Results |
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2019 | 1 |
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2024 | 2 |
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Page 1
The complexity of the cilium: spatiotemporal diversity of an ancient organelle.
Curr Opin Cell Biol. 2018 Dec;55:139-149. doi: 10.1016/j.ceb.2018.08.001. Epub 2018 Aug 20.
Curr Opin Cell Biol. 2018.
PMID: 30138887
Free PMC article.
Review.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF.
Scala M, et al. Among authors: fievet l.
Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27.
Genet Med. 2024.
PMID: 38158856
Free article.
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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ; 99 Lives Consortium; Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B.
Cogné B, et al. Among authors: fievet l.
Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7.
Am J Hum Genet. 2020.
PMID: 32386558
Free PMC article.
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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.
Sanna-Cherchi S, et al. Among authors: fievet l.
Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018.
Am J Hum Genet. 2017.
PMID: 29100090
Free PMC article.
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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.
Sanna-Cherchi S, et al. Among authors: fievet l.
Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003.
Am J Hum Genet. 2017.
PMID: 29220675
Free PMC article.
No abstract available.
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Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors.
Carrillo-Rosas S, Weber C, Fievet L, Messaddeq N, Karam A, Trottier Y.
Carrillo-Rosas S, et al. Among authors: fievet l.
Hum Mol Genet. 2019 Mar 15;28(6):912-927. doi: 10.1093/hmg/ddy401.
Hum Mol Genet. 2019.
PMID: 30445451
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AAV-Mediated CAG-Targeting Selectively Reduces Polyglutamine-Expanded Protein and Attenuates Disease Phenotypes in a Spinocerebellar Ataxia Mouse Model.
Niewiadomska-Cimicka A, Fievet L, Surdyka M, Jesion E, Keime C, Singer E, Eisenmann A, Kalinowska-Poska Z, Nguyen HHP, Fiszer A, Figiel M, Trottier Y.
Niewiadomska-Cimicka A, et al. Among authors: fievet l.
Int J Mol Sci. 2024 Apr 15;25(8):4354. doi: 10.3390/ijms25084354.
Int J Mol Sci. 2024.
PMID: 38673939
Free PMC article.
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