Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Mov Disord. 2024 Mar 4. doi: 10.1002/mds.29752. Online ahead of print.
Mov Disord. 2024.
PMID: 38436103
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Wirth T, Bonnet C, Delvallée C, Pellerin D, Bogdan T, Clément G, Schalk A, Chanson JB, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Brais B, Tranchant C, Renaud M, Anheim M.
Wirth T, et al. Among authors: delvallee c.
J Neurol. 2024 Apr;271(4):2078-2085. doi: 10.1007/s00415-024-12182-x. Epub 2024 Jan 23.
J Neurol. 2024.
PMID: 38263489
Item in Clipboard
Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).
Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M.
Wirth T, et al. Among authors: delvallee c.
Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20.
Mov Disord. 2023.
PMID: 37470282
Item in Clipboard
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J.
Karam A, et al. Among authors: delvallee c.
Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729.
Int J Mol Sci. 2023.
PMID: 37240074
Free PMC article.
Item in Clipboard
Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.
Delvallée C, Dollfus H.
Delvallée C, et al.
Cold Spring Harb Perspect Med. 2023 Jan 3;13(1):a041303. doi: 10.1101/cshperspect.a041303.
Cold Spring Harb Perspect Med. 2023.
PMID: 36596648
Review.
Item in Clipboard
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C, Nicaise S, Antin M, Leuvrey AS, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze JF, Génin E, Redon R, Demurger F, Devriendt K, Mathieu-Dramard M, Poitou-Bernert C, Odent S, Katsanis N, Mandel JL, Davis EE, Dollfus H, Muller J.
Delvallée C, et al.
Clin Genet. 2021 Feb;99(2):318-324. doi: 10.1111/cge.13878. Epub 2020 Nov 14.
Clin Genet. 2021.
PMID: 33169370
Free PMC article.
Item in Clipboard
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Estrada-Cuzcano A, Etard C, Delvallée C, Stoetzel C, Schaefer E, Scheidecker S, Geoffroy V, Schneider A, Studer F, Mattioli F, Chennen K, Sigaudy S, Plassard D, Poch O, Piton A, Strahle U, Muller J, Dollfus H.
Estrada-Cuzcano A, et al. Among authors: delvallee c.
Hum Mutat. 2020 Jan;41(1):240-254. doi: 10.1002/humu.23924. Epub 2019 Oct 17.
Hum Mutat. 2020.
PMID: 31549751
Item in Clipboard
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.
Schaefer E, Delvallée C, Mary L, Stoetzel C, Geoffroy V, Marks-Delesalle C, Holder-Espinasse M, Ghoumid J, Dollfus H, Muller J.
Schaefer E, et al. Among authors: delvallee c.
Front Genet. 2019 Jan 30;10:21. doi: 10.3389/fgene.2019.00021. eCollection 2019.
Front Genet. 2019.
PMID: 30761183
Free PMC article.
Item in Clipboard
Cite
Cite