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Page 1
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
Gargaun E, Falcone S, Solé G, Durigneux J, Urtizberea A, Cuisset JM, Benkhelifa-Ziyyat S, Julien L, Boland A, Sandron F, Meyer V, Deleuze JF, Salgado D, Desvignes JP, Béroud C, Chessel A, Blesius A, Krahn M, Levy N, Leturcq F, Pietri-Rouxel F. Gargaun E, et al. Among authors: boland a. Biomedicines. 2021 Feb 20;9(2):219. doi: 10.3390/biomedicines9020219. Biomedicines. 2021. PMID: 33672764 Free PMC article.
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage.
Gourhant L, Bocher O, De Saint Martin L, Ludwig TE, Boland A, Deleuze JF, Merviel P, Dupré PF, Lemarié CA, Couturaud F, Le Maréchal C, Génin E, Pasquier E. Gourhant L, et al. Among authors: boland a. Reprod Biomed Online. 2021 Apr;42(4):789-798. doi: 10.1016/j.rbmo.2021.01.008. Epub 2021 Jan 19. Reprod Biomed Online. 2021. PMID: 33658156
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Ziegler A, Steindl K, Hanner AS, Kar RK, Prouteau C, Boland A, Deleuze JF, Coubes C, Bézieau S, Küry S, Maystadt I, Le Mao M, Lenaers G, Navet B, Faivre L, Tran Mau-Them F, Zanoni P, Chung WK, Rauch A, Bonneau D, Park MH. Ziegler A, et al. Among authors: boland a. Am J Hum Genet. 2022 Aug 4;109(8):1549-1558. doi: 10.1016/j.ajhg.2022.06.010. Epub 2022 Jul 19. Am J Hum Genet. 2022. PMID: 35858628 Free PMC article.
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: boland a. Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729. Int J Mol Sci. 2023. PMID: 37240074 Free PMC article.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmüller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G, Roos A. Hathazi D, et al. Among authors: boland a. Brain. 2021 Sep 4;144(8):2427-2442. doi: 10.1093/brain/awab133. Brain. 2021. PMID: 33792664 Free PMC article.
Genetics and Cognitive Vulnerability to Sleep Deprivation in Healthy Subjects: Interaction of ADORA2A, TNF-α and COMT Polymorphisms.
Erblang M, Drogou C, Gomez-Merino D, Rabat A, Guillard M, Beers PV, Quiquempoix M, Boland A, Deleuze JF, Olaso R, Derbois C, Prost M, Dorey R, Léger D, Thomas C, Chennaoui M, Sauvet F. Erblang M, et al. Among authors: boland a. Life (Basel). 2021 Oct 19;11(10):1110. doi: 10.3390/life11101110. Life (Basel). 2021. PMID: 34685481 Free PMC article.
569 results