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Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J. Laurent MR, et al. Among authors: mortier gr. Front Endocrinol (Lausanne). 2021 Mar 19;12:641543. doi: 10.3389/fendo.2021.641543. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33815294 Free PMC article. Review.
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.
D'haene B, Hellemans J, Craen M, De Schepper J, Devriendt K, Fryns JP, Keymolen K, Debals E, de Klein A, de Jong EM, Segers K, De Paepe A, Mortier G, Vandesompele J, De Baere E. D'haene B, et al. J Clin Endocrinol Metab. 2010 Jun;95(6):3010-8. doi: 10.1210/jc.2009-2218. Epub 2010 Apr 7. J Clin Endocrinol Metab. 2010. PMID: 20375215
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.
Peeters S, Declerck K, Thomas M, Boudin E, Beckers D, Chivu O, Heinrichs C, Devriendt K, de Zegher F, Van Hul W, Vanden Berghe W, De Schepper J, Rooman R, Mortier G; WES-BESPEED Study Group. Peeters S, et al. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa465. doi: 10.1210/clinem/dgaa465. J Clin Endocrinol Metab. 2020. PMID: 32685970
Corrigendum: Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J. Laurent MR, et al. Among authors: mortier gr. Front Endocrinol (Lausanne). 2021 May 25;12:686401. doi: 10.3389/fendo.2021.686401. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34113319 Free PMC article.
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. Savarirayan R, et al. Among authors: mortier gr. Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26. Nat Rev Endocrinol. 2022. PMID: 34837063 Free article. Review.
The first European consensus on principles of management for achondroplasia.
Cormier-Daire V, AlSayed M, Ben-Omran T, de Sousa SB, Boero S, Fredwall SO, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Peijin Z, Mohnike K. Cormier-Daire V, et al. Orphanet J Rare Dis. 2021 Jul 31;16(1):333. doi: 10.1186/s13023-021-01971-6. Orphanet J Rare Dis. 2021. PMID: 34332609 Free PMC article.
259 results