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Page 1
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. 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
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. 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.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E. Sperelakis-Beedham B, et al. Among authors: porquet bordes v. Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27. Mol Genet Metab. 2021. PMID: 33549410
Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum.
Koumakis E, Cormier-Daire V, Dellal A, Debernardi M, Cortet B, Debiais F, Javier RM, Thomas T, Mehsen-Cetre N, Cohen-Solal M, Fontanges E, Laroche M, Porquet-Bordes V, Marcelli C, Benachi A, Briot K, Roux C, Cormier C. Koumakis E, et al. Among authors: porquet bordes v. Orphanet J Rare Dis. 2022 Jan 28;17(1):22. doi: 10.1186/s13023-021-02148-x. Orphanet J Rare Dis. 2022. PMID: 35090500 Free PMC article.
Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.
Rouleau C, Malorie M, Collet C, Porquet-Bordes V, Gennero I, Eddiry S, Laroche M, Salles JP, Couture G, Edouard T. Rouleau C, et al. Among authors: porquet bordes v. Bone Rep. 2022 Feb 23;16:101176. doi: 10.1016/j.bonr.2022.101176. eCollection 2022 Jun. Bone Rep. 2022. PMID: 35252483 Free PMC article.
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population.
El Allali Y, Hermetet C, Bacchetta J, Amouroux C, Rothenbuhler A, Porquet-Bordes V, Champigny MA, Baron S, Barat P, Bony-Trifunovic H, Bourdet K, Busiah K, Cartigny-Maciejewski M, Compain F, Coutant R, Amsellem-Jager J, De Kerdanet M, Magontier N, Mignot B, Richard O, Rossignol S, Soskin S, Berot A, Naud-Saudreau C, Salles JP, Linglart A, Edouard T, Lienhardt-Roussie A. El Allali Y, et al. Eur J Endocrinol. 2021 Feb;184(2):347-355. doi: 10.1530/EJE-20-1119. Eur J Endocrinol. 2021. PMID: 33361469
Prenatal features and neonatal management of severe hyperparathyroidism caused by the heterozygous inactivating calcium-sensing receptor variant, Arg185Gln: A case report and review of the literature.
Aubert-Mucca M, Dubucs C, Groussolles M, Vial J, Le Guillou E, Porquet-Bordes V, Pasmant E, Salles JP, Edouard T. Aubert-Mucca M, et al. Among authors: porquet bordes v. Bone Rep. 2021 Jun 9;15:101097. doi: 10.1016/j.bonr.2021.101097. eCollection 2021 Dec. Bone Rep. 2021. PMID: 34169121 Free PMC article.
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults.
Nannette G, Bar C, Diene G, Pienkowski C, Oliver-Petit I, Jouret B, Cartault A, Porquet-Bordes V, Salles JP, Grunenwald S, Edouard T, Molinas C, Tauber M. Nannette G, et al. Among authors: porquet bordes v. J Clin Endocrinol Metab. 2023 Jan 17;108(2):323-330. doi: 10.1210/clinem/dgac583. J Clin Endocrinol Metab. 2023. PMID: 36201475
15 results