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Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.
Bodemer C, Diociaiuti A, Hadj-Rabia S, Robert MP, Desguerre I, Manière MC, de la Dure-Molla M, De Liso P, Federici M, Galeotti A, Fusco F, Fraitag S, Demily C, Taieb C, Valeria Ursini M, El Hachem M, Steffann J. Bodemer C, et al. Among authors: maniere mc. J Eur Acad Dermatol Venereol. 2020 Jul;34(7):1415-1424. doi: 10.1111/jdv.16403. J Eur Acad Dermatol Venereol. 2020. PMID: 32678511 Review.
[Alcopops: systemic and dental consequences].
Michel PA, Loing A, Manière MC. Michel PA, et al. Among authors: maniere mc. Arch Pediatr. 2010 Dec;17(12):1744-8. doi: 10.1016/j.arcped.2010.08.002. Arch Pediatr. 2010. PMID: 20926267 French.
Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations.
Bugueno IM, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N, Manière MC, Herault Y, Bloch-Zupan A, Haushalter-Laugel V. Bugueno IM, et al. Among authors: maniere mc. Genes Dis. 2024 Apr 20;11(5):101303. doi: 10.1016/j.gendis.2024.101303. eCollection 2024 Sep. Genes Dis. 2024. PMID: 38721411 Free PMC article. No abstract available.
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Manière MC, Gérard B, Bugueno IM, Laugel-Haushalter V. Bloch-Zupan A, et al. Among authors: maniere mc. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023. Front Physiol. 2023. PMID: 37228816 Free PMC article.
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. Douzgou S, et al. Among authors: maniere mc. Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. Epub 2021 Jul 16. Clin Genet. 2022. PMID: 34240408 Free PMC article. Review.
44 results