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Page 1
B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.
Gauthier LW, Gossez M, Malcus C, Viel S, Monneret G, Bordonné R, Pons L, Cabet S, Delous M, Mazoyer S, Putoux A, Edery P. Gauthier LW, et al. Among authors: delous m. Clin Genet. 2024 Oct;106(4):476-482. doi: 10.1111/cge.14571. Epub 2024 Jun 4. Clin Genet. 2024. PMID: 38837402
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, Sala G, Cologne A, Delous M, Lesca G, Padgett RA, Leutenegger AL, Lacroix V, Edery P, Mazoyer S. Benoit-Pilven C, et al. Among authors: delous m. PLoS One. 2020 Jul 6;15(7):e0235655. doi: 10.1371/journal.pone.0235655. eCollection 2020. PLoS One. 2020. PMID: 32628740 Free PMC article.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Khatri D, Putoux A, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, Castelle M, Cornen G, Grotto S, Guët A, Guibaud L, Michot C, Odent S, Ruaud L, Sacaze E, Hamel V, Bordonné R, Leutenegger AL, Edery P, Burglen L, Attié-Bitach T, Mazoyer S, Delous M. Khatri D, et al. Among authors: delous m. Proc Natl Acad Sci U S A. 2023 Feb 28;120(9):e2102569120. doi: 10.1073/pnas.2102569120. Epub 2023 Feb 21. Proc Natl Acad Sci U S A. 2023. PMID: 36802443 Free PMC article.
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids.
Guguin J, Chen TY, Cuinat S, Besson A, Bertiaux E, Boutaud L, Ardito N, Imaz Murguiondo M, Cabet S, Hamel V, Thomas S, Pain B, Edery P, Putoux A, Tang TK, Mazoyer S, Delous M. Guguin J, et al. Among authors: delous m. PLoS Genet. 2024 Dec 16;20(12):e1011517. doi: 10.1371/journal.pgen.1011517. eCollection 2024 Dec. PLoS Genet. 2024. PMID: 39680576 Free PMC article.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. Delous M, et al. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558409
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bouasker S, et al. Among authors: delous m. J Med Genet. 2023 Mar;60(3):294-300. doi: 10.1136/jmedgenet-2022-108475. Epub 2022 Jul 5. J Med Genet. 2023. PMID: 35790350
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Dupont MA, Humbert C, Huber C, Siour Q, Guerrera IC, Jung V, Christensen A, Pouliet A, Garfa-Traoré M, Nitschké P, Injeyan M, Millar K, Chitayat D, Shannon P, Girisha KM, Shukla A, Mechler C, Lorentzen E, Benmerah A, Cormier-Daire V, Jeanpierre C, Saunier S, Delous M. Dupont MA, et al. Among authors: delous m. Hum Mol Genet. 2019 Aug 15;28(16):2720-2737. doi: 10.1093/hmg/ddz091. Hum Mol Genet. 2019. PMID: 31042281
24 results