Search details
1.
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.
Hum Genomics
; 18(1): 53, 2024 May 27.
Article
in English
| MEDLINE | ID: mdl-38802968
2.
An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
Calcif Tissue Int
; 114(2): 171-181, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38051321
3.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
J Med Genet
; 60(5): 498-504, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36241386
4.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Article
in English
| MEDLINE | ID: mdl-33058759
5.
Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.
Calcif Tissue Int
; 113(5): 552-557, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37728743
6.
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.
J Med Genet
; 58(11): 778-782, 2021 11.
Article
in English
| MEDLINE | ID: mdl-32900841
7.
Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.
Am J Hum Genet
; 103(2): 288-295, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-30032985
8.
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.
Calcif Tissue Int
; 109(6): 656-665, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34173013
9.
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
PLoS Genet
; 14(4): e1007321, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29621230
10.
WNT16 Requires Gα Subunits as Intracellular Partners for Both Its Canonical and Non-Canonical WNT Signalling Activity in Osteoblasts.
Calcif Tissue Int
; 106(3): 294-302, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31760436
11.
Camurati-Engelmann Disease.
Calcif Tissue Int
; 104(5): 554-560, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30721323
12.
Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.
Calcif Tissue Int
; 104(6): 613-621, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30726512
13.
Evaluation of a Role for NPY and NPY2R in the Pathogenesis of Obesity by Mutation and Copy Number Variation Analysis in Obese Children and Adolescents.
Ann Hum Genet
; 82(1): 1-10, 2018 Jan.
Article
in English
| MEDLINE | ID: mdl-28857123
14.
Dysfunction of lipid sensor GPR120 leads to obesity in both mouse and human.
Nature
; 483(7389): 350-4, 2012 Feb 19.
Article
in English
| MEDLINE | ID: mdl-22343897
15.
Human Genetics of Sclerosing Bone Disorders.
Curr Osteoporos Rep
; 16(3): 256-268, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29656376
16.
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Hum Mol Genet
; 24(11): 3038-49, 2015 Jun 01.
Article
in English
| MEDLINE | ID: mdl-25669657
17.
Genetic Screening of WNT4 and WNT5B in Two Populations with Deviating Bone Mineral Densities.
Calcif Tissue Int
; 100(3): 244-249, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28078366
18.
Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
J Med Genet
; 53(8): 568-74, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27055475
19.
Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.
Mol Genet Metab
; 117(3): 383-8, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26795956
20.
Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.
Am J Med Genet A
; 170(6): 1479-84, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26994744