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PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

Osteoporosis international, 2017-10, Vol.28 (10), p.3023-3032

2017

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A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report

Calcified tissue international, 2021-12, Vol.109 (6), p.626-632

2021

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Defective WNT signaling may protect from articular cartilage deterioration – a quantitative MRI study on subjects with a heterozygous WNT1 mutation

Osteoarthritis and cartilage, 2019-11, Vol.27 (11), p.1636-1646

2019

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Defective WNT signaling associates with bone marrow fibrosis—a cross-sectional cohort study in a family with WNT1 osteoporosis

Osteoporosis international, 2018-02, Vol.29 (2), p.479-487

2018

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Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

Journal of bone and mineral research, 2016-09, Vol.31 (9), p.1734-1742

2016

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FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents

Bone (New York, N.Y.), 2015-02, Vol.71, p.124-130

2015

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Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations

Bone (New York, N.Y.), 2021-05, Vol.146, p.115900-115900, Article 115900

2021

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Genetic variation in WNT16 and its association with bone mineral density, fractures and osteoporosis in children with bone fragility

Bone Reports, 2022-06, Vol.16, p.101525-101525, Article 101525

2022

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Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3

The journal of clinical endocrinology and metabolism, 2017-07, Vol.102 (7), p.2340-2348

2017

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A novel MYT1L mutation in a patient with severe early‐onset obesity and intellectual disability

American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1972-1975

2018

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Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling

The journal of clinical endocrinology and metabolism, 2018-05, Vol.103 (5), p.1985-1996

2018

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A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia

Frontiers in immunology, 2018-10, Vol.9, p.2468-2468

2018

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Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

Journal of bone and mineral research, 2022-09, Vol.37 (9), p.1623-1641

2022

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New Insights Into Monogenic Causes of Osteoporosis

Frontiers in endocrinology (Lausanne), 2019-02, Vol.10, p.70-70

2019

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Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23

Journal of bone and mineral research, 2020-05, Vol.35 (5), p.901-912

2020

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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

JCI insight, 2019-04, Vol.4 (7)

2019

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An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility

JBMR plus, 2021-07, Vol.5 (7), p.e10509-n/a

2021

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Increased Burden of Common Risk Alleles in Children With a Significant Fracture History

Journal of bone and mineral research, 2020-05, Vol.35 (5), p.875-882

2020

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Impaired WNT signaling and the spine—Heterozygous WNT1 mutation causes severe age-related spinal pathology

Bone (New York, N.Y.), 2017-08, Vol.101, p.3-9

2017

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CRTAP variants in early‐onset osteoporosis and recurrent fractures

American journal of medical genetics. Part A, 2017-03, Vol.173 (3), p.806-808

2017

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Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis

Frontiers in endocrinology (Lausanne), 2022-09, Vol.13, p.954730-954730

2022

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Unique, Gender‐Dependent Serum microRNA Profile in PLS3 Gene‐Related Osteoporosis

Journal of bone and mineral research, 2020-10, Vol.35 (10), p.1962-1973

2020

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Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility

Frontiers in endocrinology (Lausanne), 2018-07, Vol.9, p.380-380

2018

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Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes

European journal of medical genetics, 2019-11, Vol.62 (11), p.103573-103573, Article 103573

2019

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A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, Vol.27, p.933

2019

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PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants

A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report

Defective WNT signaling may protect from articular cartilage deterioration – a quantitative MRI study on subjects with a heterozygous WNT1 mutation

Defective WNT signaling associates with bone marrow fibrosis—a cross-sectional cohort study in a family with WNT1 osteoporosis

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults

FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents

Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations

Genetic variation in WNT16 and its association with bone mineral density, fractures and osteoporosis in children with bone fragility

Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3

A novel MYT1L mutation in a patient with severe early‐onset obesity and intellectual disability

Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling

A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia

Early‐Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen

New Insights Into Monogenic Causes of Osteoporosis

Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility

Increased Burden of Common Risk Alleles in Children With a Significant Fracture History

Impaired WNT signaling and the spine—Heterozygous WNT1 mutation causes severe age-related spinal pathology

CRTAP variants in early‐onset osteoporosis and recurrent fractures

Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis

Unique, Gender‐Dependent Serum microRNA Profile in PLS3 Gene‐Related Osteoporosis

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility

Recessive multiple epiphyseal dysplasia – Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes

A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

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