Eveline Boudin

Antwerpen, VLG, Belgium

Last Updated: 09/26/2026

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Found 41 publications

Loss of the Ubiquitin-Associated Domain of sqstm1/p62 in Zebrafish Causes a Phenotype Resembling Paget's Disease of Bone.

Loss of the Ubiquitin-Associated Domain of sqstm1/p62 in Zebrafish Causes a Phenotype Resembling Paget's Disease of Bone.

Journal: Calcified tissue international

Published: November 14, 2024

An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.

An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.

Journal: Calcified tissue international

Published: July 10, 2023

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.

Journal: Bone

Published: August 05, 2022

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.

Journal: Journal of medical genetics

Published: June 29, 2022

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.

Broadening the Spectrum of Loss-of-Function Variants in NPR-C-Related Extreme Tall Stature.

Journal: Journal of the Endocrine Society

Published: December 15, 2021

Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.

Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis.

Journal: Genes

Published: December 03, 2021

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.

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.

Journal: Calcified tissue international

Published: April 07, 2021

Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.

Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus.

Journal: JBMR plus

Published: September 21, 2020

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Journal: American journal of human genetics

Published: April 28, 2020

Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.

Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.

Journal: Journal of medical genetics

Published: April 14, 2020

A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.

A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.

Journal: Bone

Published: April 07, 2020

DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.

DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 30, 2020

Showing 1-12 of 41

Last Updated: 09/26/2026