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899 results

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Page 1
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G. Arrondel C, et al. Among authors: laurent a. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x. Nat Commun. 2019. PMID: 31481669 Free PMC article.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Extra-osseous manifestations in chronic recurrent multifocal osteomyelitis: a retrospective study.
Robert M, Giolito A, Reumaux H, Rossi-Semerano L, Guillemin C, Biarrotte L, Leguevaques D, Belot A, Duquesne A, Frachette C, Laurent A, Desjonquères M, Larbre JP, Galeotti C, Koné-Paut I, Dusser P. Robert M, et al. Among authors: laurent a. Rheumatology (Oxford). 2024 Sep 1;63(SI2):SI233-SI239. doi: 10.1093/rheumatology/kead473. Rheumatology (Oxford). 2024. PMID: 37698983
Methotrexate does not affect lung function in children with juvenile idiopathic arthritis.
Perrin T, Coutier L, Ranchoup J, Rifard A, Eymery M, Ohlmann C, Werck-Gallois MC, Laurent A, Desjonquères M, Duquesne A, Belot A, Reix P. Perrin T, et al. Among authors: laurent a. Pediatr Pulmonol. 2023 Dec;58(12):3630-3636. doi: 10.1002/ppul.26681. Epub 2023 Sep 13. Pediatr Pulmonol. 2023. PMID: 37701972 No abstract available.
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.
Bardet J, Laverdure N, Fusaro M, Picard C, Garnier L, Viel S, Collardeau-Frachon S, Guillebon JM, Durieu I, Casari-Thery C, Mortamet G, Laurent A, Belot A. Bardet J, et al. Among authors: laurent a. J Clin Med. 2021 Sep 24;10(19):4369. doi: 10.3390/jcm10194369. J Clin Med. 2021. PMID: 34640385 Free PMC article.
899 results