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The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: donadille b. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Harmonising phenomics information for a better interoperability in the rare disease field.
Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, Köhler S, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, Robinson PN, Rath A. Maiella S, et al. Among authors: donadille b. Eur J Med Genet. 2018 Nov;61(11):706-714. doi: 10.1016/j.ejmg.2018.01.013. Epub 2018 Feb 7. Eur J Med Genet. 2018. PMID: 29425702 Review.
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.
Decaudain A, Vantyghem MC, Guerci B, Hécart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebbé C, Béréziat V, Capeau J, Lascols O, Vigouroux C. Decaudain A, et al. Among authors: donadille b. J Clin Endocrinol Metab. 2007 Dec;92(12):4835-44. doi: 10.1210/jc.2007-0654. Epub 2007 Aug 21. J Clin Endocrinol Metab. 2007. PMID: 17711925
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Mosbah H, Donadille B, Vatier C, Janmaat S, Atlan M, Badens C, Barat P, Béliard S, Beltrand J, Ben Yaou R, Bismuth E, Boccara F, Cariou B, Chaouat M, Charriot G, Christin-Maitre S, De Kerdanet M, Delemer B, Disse E, Dubois N, Eymard B, Fève B, Lascols O, Mathurin P, Nobécourt E, Poujol-Robert A, Prevost G, Richard P, Sellam J, Tauveron I, Treboz D, Vergès B, Vermot-Desroches V, Wahbi K, Jéru I, Vantyghem MC, Vigouroux C. Mosbah H, et al. Among authors: donadille b. Orphanet J Rare Dis. 2022 Apr 19;17(Suppl 1):170. doi: 10.1186/s13023-022-02308-7. Orphanet J Rare Dis. 2022. PMID: 35440056 Free PMC article.
How can we make pregnancy safe for women with Turner syndrome?
Donadille B, Bernard V, Christin-Maitre S. Donadille B, et al. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):100-107. doi: 10.1002/ajmg.c.31682. Epub 2019 Feb 15. Am J Med Genet C Semin Med Genet. 2019. PMID: 30767364 Free article. Review.
Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.
Aboura A, Dupas C, Tachdjian G, Portnoï MF, Bourcigaux N, Dewailly D, Frydman R, Fauser B, Ronci-Chaix N, Donadille B, Bouchard P, Christin-Maitre S. Aboura A, et al. Among authors: donadille b. J Clin Endocrinol Metab. 2009 Nov;94(11):4540-6. doi: 10.1210/jc.2009-0186. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837940
53 results