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Ghosal Type Hematodiaphyseal Dysplasia.
Jeevan A, Doyard M, Kabra M, Daire VC, Gupta N. Jeevan A, et al. Among authors: doyard m. Indian Pediatr. 2016 Apr;53(4):347-8. doi: 10.1007/s13312-016-0851-y. Indian Pediatr. 2016. PMID: 27156553 Free article.
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
Doyard M, Bacrot S, Huber C, Di Rocco M, Goldenberg A, Aglan MS, Brunelle P, Temtamy S, Michot C, Otaify GA, Haudry C, Castanet M, Leroux J, Bonnefont JP, Munnich A, Baujat G, Lapunzina P, Monnot S, Ruiz-Perez VL, Cormier-Daire V. Doyard M, et al. J Med Genet. 2018 Apr;55(4):278-284. doi: 10.1136/jmedgenet-2017-104999. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358272
Bone status in a mouse model of genetic hemochromatosis.
Guggenbuhl P, Fergelot P, Doyard M, Libouban H, Roth MP, Gallois Y, Chalès G, Loréal O, Chappard D. Guggenbuhl P, et al. Among authors: doyard m. Osteoporos Int. 2011 Aug;22(8):2313-9. doi: 10.1007/s00198-010-1456-2. Epub 2010 Oct 26. Osteoporos Int. 2011. PMID: 20976594
Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.
Bordat J, Suarez F, Cormier-Daire V, De Latour RP, Soulier J, Meignin V, Doyard M, Larcher L, Vanderbecken S, De Fontbrune FS. Bordat J, et al. Among authors: doyard m. Haematologica. 2024 Mar 14. doi: 10.3324/haematol.2023.284098. Online ahead of print. Haematologica. 2024. PMID: 38497148 Free article.