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A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder

Nature communications, 2022-02, Vol.13 (1), p.700-700, Article 700

2022

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Elevation of phosphate levels impairs skeletal myoblast differentiation

Cell and tissue research, 2020-11, Vol.382 (2), p.427-432

2020

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Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

Frontiers in endocrinology (Lausanne), 2021-09, Vol.12, p.754084-754084

2021

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Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.866170-866170

2022

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Fibroblast Growth Factor 23 and Klotho Are Present in the Growth Plate

Connective tissue research, 2013-04, Vol.54 (2), p.108-117

2013

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Endocrine-disrupting chemicals

Baillière's best practice & research. Clinical endocrinology & metabolism, 2021-09, Vol.35 (5), p.101566, Article 101566

2021

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Osteoporose im Kindes- und Jugendalter

Journal für klinische endokrinologie und stoffwechsel, 2020-11, Vol.13 (4), p.163-171

2020

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Care of girls and women with Turner syndrome: beyond growth and hormones

Endocrine Connections, 2017-05, Vol.6 (4), p.R39-R51

2017

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Insulin-like growth factor I (IGF-1) Ec/Mechano Growth factor--a splice variant of IGF-1 within the growth plate

PloS one, 2013-10, Vol.8 (10), p.e76133-e76133

2013

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Health-related quality of life in paediatric patients with Osteogenesis imperfecta

Bone Reports, 2020-10, Vol.13, p.100705, Article 100705

2020

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Aortic elasticity deterioration proves intrinsic abnormality of the ascending aorta in pediatric Turner syndrome unrelated to the aortic valve morphology

Heart and vessels, 2018-11, Vol.33 (11), p.1350-1357

2018

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Health status, quality of life and medical care in adult women with Turner syndrome

Endocrine Connections, 2018-04, Vol.7 (4), p.534-543

2018

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BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure

American journal of obstetrics and gynecology, 2008, Vol.198 (1), p.84.e1-84.e5

2008

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Körpermessdaten bei Kindern: Update zu „wachstum.at

Pädiatrie und Pädologie, 2022-04, Vol.57 (2), p.66-72

2022

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Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous States

The journal of clinical endocrinology and metabolism, 2007-06, Vol.92 (6), p.2223-2231

2007

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Disease-specific gait deviations in pediatric patients with X-linked hypophosphatemia

Gait & posture, 2020-09, Vol.81, p.78-84

2020

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Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

American journal of human genetics, 2010-02, Vol.86 (2), p.267-272

2010

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Elevation of phosphate levels impairs skeletal myoblast differentiation

Cell and tissue research, 2020-11, Vol.382 (2), p.427

2020

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Bone and growth: basic principles behind rare disorders

Wiener medizinische Wochenschrift, 2021-04, Vol.171 (5-6), p.86-93

2021

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The Vienna Bone and Growth Center—care and research in the field of rare diseases

Wiener medizinische Wochenschrift, 2021-04, Vol.171 (5-6), p.85-85

2021

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A journey through growth plates: tracking differences in morphology and regulation between the spine and long bones in a pig model

The spine journal, 2017-11, Vol.17 (11), p.1674-1684

2017

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Multidisciplinary patient care in X‐linked hypophosphatemic rickets: one challenge, many perspectives

Wiener medizinische Wochenschrift, 2020-04, Vol.170 (5-6), p.116-123

2020

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Acceleration in BMI gain following COVID‐19 restrictions. A longitudinal study with 7‐ to 10‐year‐old primary school children

Pediatric obesity, 2022-06, Vol.17 (6), p.e12890-n/a

2022

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Diagnostic Value of Serum Acid-Labile Subunit Alone and in combination with IGF-I and IGFBP-3 in the Diagnosis of Growth Hormone Deficiency

Hormone research in paediatrics, 2021-02, Vol.93 (6), p.371-379

2021

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Less ready for adulthood?—Turner syndrome has an impact on transition readiness

Clinical endocrinology (Oxford), 2020-10, Vol.93 (4), p.449-455

2020

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A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder

Elevation of phosphate levels impairs skeletal myoblast differentiation

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study

Fibroblast Growth Factor 23 and Klotho Are Present in the Growth Plate

Endocrine-disrupting chemicals

Osteoporose im Kindes- und Jugendalter

Care of girls and women with Turner syndrome: beyond growth and hormones

Insulin-like growth factor I (IGF-1) Ec/Mechano Growth factor--a splice variant of IGF-1 within the growth plate

Health-related quality of life in paediatric patients with Osteogenesis imperfecta

Aortic elasticity deterioration proves intrinsic abnormality of the ascending aorta in pediatric Turner syndrome unrelated to the aortic valve morphology

Health status, quality of life and medical care in adult women with Turner syndrome

BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure

Körpermessdaten bei Kindern: Update zu „wachstum.at

Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous States

Disease-specific gait deviations in pediatric patients with X-linked hypophosphatemia

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

Elevation of phosphate levels impairs skeletal myoblast differentiation

Bone and growth: basic principles behind rare disorders

The Vienna Bone and Growth Center—care and research in the field of rare diseases

A journey through growth plates: tracking differences in morphology and regulation between the spine and long bones in a pig model

Multidisciplinary patient care in X‐linked hypophosphatemic rickets: one challenge, many perspectives

Acceleration in BMI gain following COVID‐19 restrictions. A longitudinal study with 7‐ to 10‐year‐old primary school children

Diagnostic Value of Serum Acid-Labile Subunit Alone and in combination with IGF-I and IGFBP-3 in the Diagnosis of Growth Hormone Deficiency

Less ready for adulthood?—Turner syndrome has an impact on transition readiness

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