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Craniosynostosis and hypophosphatasia.
Di Rocco F, Baujat G, Cormier-Daire V, Rothenbuhler A, Linglart A. Di Rocco F, et al. Among authors: rothenbuhler a. Arch Pediatr. 2017 May;24(5S2):5S89-5S92. doi: 10.1016/S0929-693X(18)30022-8. Arch Pediatr. 2017. PMID: 29405940
Craniosynostosis and metabolic bone disorder. A review.
Di Rocco F, Rothenbuhler A, Cormier Daire V, Bacchetta J, Adamsbaum C, Baujat G, Rossi M, Lingart A. Di Rocco F, et al. Among authors: rothenbuhler a. Neurochirurgie. 2019 Nov;65(5):258-263. doi: 10.1016/j.neuchi.2019.09.008. Epub 2019 Sep 25. Neurochirurgie. 2019. PMID: 31562881 Review.
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, Rothenbuhler A, Guggenbuhl P, Cormier C, Baujat G, Debiais F, Capri Y, Cohen-Solal M, Parent P, Chiesa J, Dieux A, Petit F, Roume J, Isnard M, Cormier-Daire V, Linglart A, Millán JL, Salles JP, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. Among authors: rothenbuhler a. Mol Genet Metab. 2015 Nov;116(3):215-20. doi: 10.1016/j.ymgme.2015.09.010. Epub 2015 Sep 30. Mol Genet Metab. 2015. PMID: 26432670 Free PMC article.
[Osteoporosis in children with cerebral palsy].
Linglart A, Marchand I, Djavidi A, Senez C, Benigni I, Rothenbuhler A, Forin V. Linglart A, et al. Among authors: rothenbuhler a. Arch Pediatr. 2009 Jun;16(6):614-5. doi: 10.1016/S0929-693X(09)74087-4. Arch Pediatr. 2009. PMID: 19541105 French. No abstract available.
Phosphate and Vitamin D Prevent Periodontitis in X-Linked Hypophosphatemia.
Biosse Duplan M, Coyac BR, Bardet C, Zadikian C, Rothenbuhler A, Kamenicky P, Briot K, Linglart A, Chaussain C. Biosse Duplan M, et al. Among authors: rothenbuhler a. J Dent Res. 2017 Apr;96(4):388-395. doi: 10.1177/0022034516677528. Epub 2016 Nov 13. J Dent Res. 2017. PMID: 27821544
A sensitive assay for measuring whole-blood responses to type I IFNs.
Gervais A, Le Floc'h C, Le Voyer T, Bizien L, Bohlen J, Celmeli F, Al Qureshah F, Masson C, Rosain J, Chbihi M, Lévy R, Castagnoli R, Rothenbuhler A, Jouanguy E, Zhang Q, Zhang SY, Béziat V, Bustamante J, Puel A, Bastard P, Casanova JL. Gervais A, et al. Among authors: rothenbuhler a. Proc Natl Acad Sci U S A. 2024 Oct;121(40):e2402983121. doi: 10.1073/pnas.2402983121. Epub 2024 Sep 23. Proc Natl Acad Sci U S A. 2024. PMID: 39312669 Free PMC article.
Prevalence of hearing loss in pseudohypoparathyroidism.
Djian C, Berkenou J, Rothenbuhler A, Botton J, Linglart A, Nevoux J. Djian C, et al. Among authors: rothenbuhler a. Orphanet J Rare Dis. 2024 Sep 12;19(1):339. doi: 10.1186/s13023-024-03299-3. Orphanet J Rare Dis. 2024. PMID: 39267114 Free PMC article.
92 results