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Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.
Lauffer P, Boudin E, van der Kaay DCM, Koene S, van Haeringen A, van Tellingen V, Van Hul W, Prickett TCR, Mortier G, Espiner EA, van Duyvenvoorde HA. Lauffer P, et al. Among authors: boudin e. J Endocr Soc. 2022 Feb 10;6(4):bvac019. doi: 10.1210/jendso/bvac019. eCollection 2022 Apr 1. J Endocr Soc. 2022. PMID: 35233476 Free PMC article.
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Boudin E, de Jong TR, Prickett TCR, Lapauw B, Toye K, Van Hoof V, Luyckx I, Verstraeten A, Heymans HSA, Dulfer E, Van Laer L, Berry IR, Dobbie A, Blair E, Loeys B, Espiner EA, Wit JM, Van Hul W, Houpt P, Mortier GR. Boudin E, et al. Am J Hum Genet. 2018 Aug 2;103(2):288-295. doi: 10.1016/j.ajhg.2018.06.007. Epub 2018 Jul 19. Am J Hum Genet. 2018. PMID: 30032985 Free PMC article.
WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.
Huybrechts Y, Mortier G, Boudin E, Van Hul W. Huybrechts Y, et al. Among authors: boudin e. Front Endocrinol (Lausanne). 2020 Apr 9;11:165. doi: 10.3389/fendo.2020.00165. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32328030 Free PMC article. Review.
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. Among authors: boudin e. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa465. doi: 10.1210/clinem/dgaa465. J Clin Endocrinol Metab. 2020. PMID: 32685970
Sclerosing bone dysplasias.
Boudin E, Van Hul W. Boudin E, et al. Best Pract Res Clin Endocrinol Metab. 2018 Oct;32(5):707-723. doi: 10.1016/j.beem.2018.06.003. Epub 2018 Jun 18. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30449550 Review.
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
Peeters S, Decramer A, Cain SA, Houpt P, Verstreken F, Noyez J, Hermans C, Jacobs W, Lammens M, Fransen E, Kumar AA, Vandeweyer G, Loeys B, Van Hul W, Baldock C, Boudin E, Mortier G. Peeters S, et al. Among authors: boudin e. J Med Genet. 2021 Nov;58(11):778-782. doi: 10.1136/jmedgenet-2020-107085. Epub 2020 Sep 8. J Med Genet. 2021. PMID: 32900841
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: boudin e. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14. Am J Hum Genet. 2020. PMID: 33058759 Free PMC article.
45 results