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Cartilage‐hair hypoplasia with normal height in childhood—4 patients with a unique genotype

Clinical genetics, 2017-08, Vol.92 (2), p.204-207

2017

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Anti-tumor necrosis factor treatment in cherubism — Clinical, radiological and histological findings in two children

Bone (New York, N.Y.), 2013-01, Vol.52 (1), p.347-353

2013

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A Novel Splice Mutation in PLS3 Causes X‐linked Early Onset Low‐Turnover Osteoporosis

Journal of bone and mineral research, 2015-03, Vol.30 (3), p.510-518

2015

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Skeletal outcome in long-term survivors of childhood high-risk neuroblastoma treated with high-dose therapy and autologous stem cell rescue

Bone marrow transplantation (Basingstoke), 2017-05, Vol.52 (5), p.711-716

2017

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Long-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study

European journal of endocrinology, 2013-02, Vol.168 (2), p.281-288

2013

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Fetal urinoma: two new cases and a review of the literature

Ultrasound in obstetrics & gynecology, 2006-11, Vol.28 (6), p.848-852

2006

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Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort

Prenatal diagnosis, 2022-11, Vol.42 (12), p.1525-1537

2022

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Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

Annals of the New York Academy of Sciences, 2011-12, Vol.1242 (1), p.40-55

2011

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Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease–A Prospective Study

The Journal of pediatrics, 2014-06, Vol.164 (6), p.1436-1443.e1

2014

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High prevalence of vertebral compression fractures in patients with juvenile idiopathic arthritis

BONE, 2009, Vol.45, p.S61-S61

2009

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Vertebral morphology in aromatase inhibitor–treated males with idiopathic short stature or constitutional delay of puberty

Journal of bone and mineral research, 2010-07, Vol.25 (7), p.1536-1543

2010

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A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.845889-845889

2022

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Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations

Frontiers in endocrinology (Lausanne), 2020-03, Vol.11, p.109-109

2020

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Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study

Journal of clinical immunology, 2021-07, Vol.41 (5), p.1064-1071

2021

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Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation

European journal of endocrinology, 2016-09, Vol.175 (3), p.211-218

2016

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Bisphosphonate Treatment and the Characteristics of Femoral Fractures in Children With Osteogenesis Imperfecta

The journal of clinical endocrinology and metabolism, 2017-04, Vol.102 (4), p.1333-1339

2017

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PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology

Frontiers in endocrinology (Lausanne), 2020-06, Vol.11, p.393-393

2020

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Impaired Bone Health in Inflammatory Bowel Disease: A Case–Control Study in 80 Pediatric Patients

Calcified tissue international, 2012-08, Vol.91 (2), p.121-130

2012

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Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta

Hormone research in paediatrics, 2011-01, Vol.75 (5), p.346-353

2011

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Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

Journal of clinical immunology, 2020-04, Vol.40 (3), p.503-514

2020

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Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: A case-control study

Journal of bone and mineral research, 2012-06, Vol.27 (6), p.1413-1424

2012

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Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

Clinical endocrinology (Oxford), 2010-04, Vol.72 (4), p.481-488

2010

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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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Bone marrow fat unsaturation in young adults is not affected by present or childhood obesity, but increases with age: A pilot study

Metabolism, clinical and experimental, 2015-11, Vol.64 (11), p.1574-1581

2015

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High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

Journal of allergy and clinical immunology, 2017-01, Vol.139 (1), p.375-378

2017

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Cartilage‐hair hypoplasia with normal height in childhood—4 patients with a unique genotype

Anti-tumor necrosis factor treatment in cherubism — Clinical, radiological and histological findings in two children

A Novel Splice Mutation in PLS3 Causes X‐linked Early Onset Low‐Turnover Osteoporosis

Skeletal outcome in long-term survivors of childhood high-risk neuroblastoma treated with high-dose therapy and autologous stem cell rescue

Long-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study

Fetal urinoma: two new cases and a review of the literature

Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease–A Prospective Study

High prevalence of vertebral compression fractures in patients with juvenile idiopathic arthritis

Vertebral morphology in aromatase inhibitor–treated males with idiopathic short stature or constitutional delay of puberty

A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant

Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations

Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation

Bisphosphonate Treatment and the Characteristics of Femoral Fractures in Children With Osteogenesis Imperfecta

PLS3 Mutations Cause Severe Age and Sex-Related Spinal Pathology

Impaired Bone Health in Inflammatory Bowel Disease: A Case–Control Study in 80 Pediatric Patients

Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: A case-control study

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

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

Bone marrow fat unsaturation in young adults is not affected by present or childhood obesity, but increases with age: A pilot study

High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia

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