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Page 1
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: guggenbuhl p. 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.
[Recommendations for the measurement of blood 25-OH vitamin D].
Souberbielle JC, Deschenes G, Fouque D, Groussin L, Guggenbuhl P, Jean G, Linglart A, Thomas T. Souberbielle JC, et al. Among authors: guggenbuhl p. Ann Biol Clin (Paris). 2016 Jan-Feb;74(1):7-19. doi: 10.1684/abc.2015.1107. Ann Biol Clin (Paris). 2016. PMID: 26711312 Free article. Review. French.
French law: what about a reasoned reimbursement of serum vitamin D assays?
Souberbielle JC, Benhamou CL, Cortet B, Rousière M, Roux C, Abitbol V, Annweiler C, Audran M, Bacchetta J, Bataille P, Beauchet O, Bardet R, Benachi A, Berenbaum F, Blain H, Borson-Chazot F, Breuil V, Briot K, Brunet P, Carel JC, Caron P, Chabre O, Chanson P, Chapurlat R, Cochat P, Coutant R, Christin-Maitre S, Cohen-Solal M, Combe C, Cormier C, Courbebaisse M, Debrus G, Delemer B, Deschenes G, Duquenne M, Duval G, Fardellone P, Fouque D, Friedlander G, Gauvain JB, Groussin L, Guggenbuhl P, Houillier P, Hannedouche T, Jacot W, Javier RM, Jean G, Jeandel C, Joly D, Kamenicky P, Knebelmann B, Lafage-Proust MH, LeBouc Y, Legrand E, Levy-Weil F, Linglart A, Machet L, Maheu E, Mallet E, Marcelli C, Marès P, Mariat C, Maruani G, Maugars Y, Montagnon F, Moulin B, Orcel P, Partouche H, Personne V, Pierrot-Deseilligny C, Polak M, Pouteil-Noble C, Prié D, Raynaud-Simon A, Rolland Y, Sadoul JL, Salle B, Sault C, Schott AM, Sermet-Gaudelus I, Soubrier M, Tack I, Thervet E, Tostivint I, Touraine P, Tremollières F, Urena-Torres P, Viard JP, Wemeau JL, Weryha G, Winer N, Young J, Thomas T. Souberbielle JC, et al. Among authors: guggenbuhl p. Geriatr Psychol Neuropsychiatr Vieil. 2016 Dec 1;14(4):377-382. doi: 10.1684/pnv.2016.0631. Geriatr Psychol Neuropsychiatr Vieil. 2016. PMID: 27818369 Review. English.
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Geneviève D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. Among authors: guggenbuhl p. J Bone Miner Metab. 2018 Nov;36(6):723-733. doi: 10.1007/s00774-017-0888-6. Epub 2017 Dec 13. J Bone Miner Metab. 2018. PMID: 29236161
High bone mass in adults.
Paccou J, Michou L, Kolta S, Debiais F, Cortet B, Guggenbuhl P. Paccou J, et al. Among authors: guggenbuhl p. Joint Bone Spine. 2018 Dec;85(6):693-699. doi: 10.1016/j.jbspin.2018.01.007. Epub 2018 Mar 2. Joint Bone Spine. 2018. PMID: 29407041 Review.
Vitamin D Supplementation in France in patients with or at risk for osteoporosis: Recent data and new practices.
Souberbielle JC, Cormier C, Cavalier E, Breuil V, Debiais F, Fardellone P, Guggenbuhl P, Javier RM, Legrand E, Lespessailles E, Paccou J, Thomas T, Cortet B; au nom du Groupe de recherche et d’information sur les ostéoporoses, (GRIO). Souberbielle JC, et al. Among authors: guggenbuhl p. Joint Bone Spine. 2020 Jan;87(1):25-29. doi: 10.1016/j.jbspin.2019.04.004. Epub 2019 Apr 30. Joint Bone Spine. 2020. PMID: 31051244
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.
Mancini M, Chapurlat R, Isidor B, Desjonqueres M, Couture G, Guggenbuhl P, Coutant R, El Chehadeh S, Fradin M, Frazier A, Goldenberg A, Guillot P, Koumakis E, Mehsen-Cêtre N, Rossi M, Schaefer É, Sigaudy S, Porquet-Bordes V, Fontanges É, Letard P, Edouard T, Javier RM, Cohen-Solal M, Funck-Brentano T, Collet C. Mancini M, et al. Among authors: guggenbuhl p. Calcif Tissue Int. 2024 Nov;115(5):591-598. doi: 10.1007/s00223-024-01288-z. Epub 2024 Sep 24. Calcif Tissue Int. 2024. PMID: 39316135
Difficulties in the diagnosis of vertebral fracture in men: agreement between doctors.
Fechtenbaum J, Briot K, Paternotte S, Audran M, Breuil V, Cortet B, Debiais F, Grados F, Guggenbuhl P, Laroche M, Legrand E, Lespessailles E, Marcelli C, Orcel P, Szulc P, Thomas T, Kolta S, Roux C; bone section of the French Rheumatology Society. Fechtenbaum J, et al. Among authors: guggenbuhl p. Joint Bone Spine. 2014 Mar;81(2):169-74. doi: 10.1016/j.jbspin.2013.12.006. Epub 2014 Jan 23. Joint Bone Spine. 2014. PMID: 24462127
157 results