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The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach.
Chou HT, Apelt L, Farrell DP, White SR, Woodsmith J, Svetlov V, Goldstein JS, Nager AR, Li Z, Muller J, Dollfus H, Nudler E, Stelzl U, DiMaio F, Nachury MV, Walz T. Chou HT, et al. Among authors: dollfus h. Structure. 2019 Sep 3;27(9):1384-1394.e4. doi: 10.1016/j.str.2019.06.006. Epub 2019 Jul 11. Structure. 2019. PMID: 31303482 Free PMC article.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strähle U, Nachury MV, Dollfus H. Scheidecker S, et al. Among authors: dollfus h. J Med Genet. 2014 Feb;51(2):132-6. doi: 10.1136/jmedgenet-2013-101785. Epub 2013 Sep 11. J Med Genet. 2014. PMID: 24026985 Free PMC article.
AnnotSV: an integrated tool for structural variations annotation.
Geoffroy V, Herenger Y, Kress A, Stoetzel C, Piton A, Dollfus H, Muller J. Geoffroy V, et al. Among authors: dollfus h. Bioinformatics. 2018 Oct 15;34(20):3572-3574. doi: 10.1093/bioinformatics/bty304. Bioinformatics. 2018. PMID: 29669011
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H. Scheidecker S, et al. Among authors: dollfus h. Hum Mutat. 2019 Oct;40(10):1826-1840. doi: 10.1002/humu.23799. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31116475 Free article.
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Gouronc A, Zilliox V, Jacquemont ML, Darcel F, Leuvrey AS, Nourisson E, Antin M, Alessandri JL, Doray B, Gueguen P, Payet F, Randrianaivo H, Stoetzel C, Scheidecker S, Flodrops H, Dollfus H, Muller J. Gouronc A, et al. Among authors: dollfus h. Clin Genet. 2020 Aug;98(2):166-171. doi: 10.1111/cge.13768. Epub 2020 Jun 22. Clin Genet. 2020. PMID: 32361989
Reproduction Function in Male Patients With Bardet Biedl Syndrome.
Koscinski I, Mark M, Messaddeq N, Braun JJ, Celebi C, Muller J, Zinetti-Bertschy A, Goetz N, Dollfus H, Rossignol S. Koscinski I, et al. Among authors: dollfus h. J Clin Endocrinol Metab. 2020 Dec 1;105(12):e4417-29. doi: 10.1210/clinem/dgaa551. J Clin Endocrinol Metab. 2020. PMID: 32835378 Free PMC article.
272 results