E. Steenackers

发表

ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain.

A. Lambeir, J. Merregaert, A. El Ghalbzouri, 2009, Matrix biology : journal of the International Society for Matrix Biology.

The Lrp4R1170Q Homozygous Knock‐In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

G. Mortier, P. D’Haese, Igor Fijałkowski, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities

M. Andersen, K. Brixen, W. Van Hul, 2017, Calcified Tissue International.

A common LRP4 haplotype is associated with bone mineral density and hip geometry in men-data from the Odense Androgen Study (OAS).

M. Andersen, K. Brixen, W. Van Hul, 2013, Bone.

Mutations in sFRP1 or sFRP4 are not a common cause of craniotubular hyperostosis.

G. Mortier, O. Kuismin, Igor Fijałkowski, 2012, Bone.

Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)

G. Mortier, S. Bhadada, W. Van Hul, 2020, Bone reports.

Germline mosaicism in osteopathia striata with cranial sclerosis – recurrence in siblings

W. Reardon, E. Phelan, W. Van Hul, 2016, Clinical dysmorphology.

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

G. Mortier, W. Van Hul, N. Hamdy, 2021, Genes.

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

G. Mortier, W. Van Hul, D. Geneviève, 2022, Bone.

Camurati–Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred

G. Mortier, W. Hul, S. Bhadada, 2014, Calcified Tissue International.

A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Igor Fijalkowski, Geert Mortier, G. Mortier, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Phospholipid Scramblase 1 Is Secreted by a Lipid Raft-dependent Pathway and Interacts with the Extracellular Matrix Protein 1 in the Dermal Epidermal Junction Zone of Human Skin*

X. Van Ostade, J. Merregaert, P. Ponsaerts, 2010, The Journal of Biological Chemistry.

Novel SOST gene mutation in a sclerosteosis patient and her parents.

A. Arya, S. Bhadada, W. Van Hul, 2013, Bone.

Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

G. Mortier, R. Cousins, R. Stokroos, 2018, PLoS genetics.

Camurati–Engelmann Disease (Progressive Diaphyseal Dysplasia): Reports of an Indian Kindred

G. Mortier, S. Bhadada, W. Van Hul, 2013, Calcified Tissue International.

Localization of the gene for X-linked calvarial hyperostosis to chromosome Xq27.3-Xqter.

I. Glass, W. Van Hul, V. Borra, 2014, Bone.

Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates

S. Bhadada, W. Van Hul, D. Dayal, 2021, AACE clinical case reports.

Identification of a Novel Nonsense Variant in the DLL3 Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani Family

G. Mortier, W. Ahmad, W. Van Hul, 2023, Molecular Syndromology.

The Lrp4R1170Q Homozygous Knock‐In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

G. Mortier, Igor Fijałkowski, W. Van Hul, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.