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Page 1
Bayesian estimation of the sensitivity and specificity of coprological and serological diagnostic tests for the detection of Ascaris suum infection on pig farms.
Delsart M, Répérant JM, Benoit C, Boudin E, Da-Costa JF, Dorenlor V, Eono F, Eveno E, Kerphérique S, Poulain G, Souquière M, Thomas-Hénaff M, Pol F, Dufour B, Rose N, Fablet C. Delsart M, et al. Among authors: boudin e. Int J Parasitol. 2024 Apr 25:S0020-7519(24)00080-8. doi: 10.1016/j.ijpara.2024.04.010. Online ahead of print. Int J Parasitol. 2024. PMID: 38677398 Free article.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schütz L, Haack TB, Weber A, Biliouri E, Vinkšel M, Zagožen A, Peterlin B, Pai S, Telegrafi A, Henderson LB, Ells C, Turner L, Wuyts W, Van Hul W, Hendrickx G, Mortier GR. Beyltjens T, et al. Among authors: boudin e. J Med Genet. 2023 May;60(5):498-504. doi: 10.1136/jmg-2022-108739. Epub 2022 Oct 14. J Med Genet. 2023. PMID: 36241386 Free PMC article.
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.
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.
Huybrechts Y, Boudin E, Hendrickx G, Steenackers E, Hamdy N, Mortier G, Martínez Díaz-Guerra G, Bracamonte MS, Appelman-Dijkstra NM, Van Hul W. Huybrechts Y, et al. Among authors: boudin e. Genes (Basel). 2021 Dec 28;13(1):80. doi: 10.3390/genes13010080. Genes (Basel). 2021. PMID: 35052419 Free PMC article.
A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.
De Ridder R, Vandeweyer G, Boudin E, Hendrickx G, Huybrechts Y, Cremers TC, Devogelaer JP, Mortier G, Fransen E, Van Hul W. De Ridder R, et al. Among authors: boudin e. Calcif Tissue Int. 2021 Dec;109(6):656-665. doi: 10.1007/s00223-021-00881-w. Epub 2021 Jun 25. Calcif Tissue Int. 2021. PMID: 34173013
Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.
Martínez-Gil N, Roca-Ayats N, Atalay N, Pineda-Moncusí M, Garcia-Giralt N, Van Hul W, Boudin E, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. Martínez-Gil N, et al. Among authors: boudin e. JBMR Plus. 2020 Nov 2;4(12):e10423. doi: 10.1002/jbm4.10423. eCollection 2020 Dec. JBMR Plus. 2020. PMID: 33354644 Free PMC article.
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.
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
45 results