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WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729.
Int J Mol Sci. 2023.
PMID: 37240074
Free PMC article.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J.
Geoffroy V, et al. Among authors: leuvrey as.
Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8.
Hum Mutat. 2018.
PMID: 29688594
Free article.
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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: leuvrey as.
Clin Genet. 2020 Aug;98(2):166-171. doi: 10.1111/cge.13768. Epub 2020 Jun 22.
Clin Genet. 2020.
PMID: 32361989
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Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.
Mauring L, Porter LF, Pelletier V, Riehm A, Leuvrey AS, Gouronc A, Studer F, Stoetzel C, Dollfus H, Muller J.
Mauring L, et al. Among authors: leuvrey as.
Front Genet. 2020 Aug 21;11:938. doi: 10.3389/fgene.2020.00938. eCollection 2020.
Front Genet. 2020.
PMID: 32973878
Free PMC article.
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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. Among authors: leuvrey as.
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.
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Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.
Okutman Ö, Gürbüz AS, Salvarci A, Büyük U, Ruso H, Gürgan T, Tarabeux J, Leuvrey AS, Nourisson E, Lang C, Muller J, Viville S.
Okutman Ö, et al. Among authors: leuvrey as.
Reprod Sci. 2024 Apr 25. doi: 10.1007/s43032-024-01553-4. Online ahead of print.
Reprod Sci. 2024.
PMID: 38664359
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