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Recombinant Human Growth Hormone Activates Neuroprotective Growth Factors in Hypoxic Brain Injury in Neonatal Mice

Endocrinology (Philadelphia), 2021-03, Vol.162 (3), p.1

2021

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Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort

The journal of clinical endocrinology and metabolism, 2022-11, Vol.107 (12), p.3287-3301

2022

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Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs

International journal of environmental research and public health, 2023-03, Vol.20 (5), p.4493

2023

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Response to Letter to the Editor From Virú-Loza and Chávez-Nomberto: “Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort”

The journal of clinical endocrinology and metabolism, 2023-06, Vol.108 (6), p.e356-e357

2023

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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Scientific reports, 2017-09, Vol.7 (1), p.12225-6, Article 12225

2017

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Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Science (American Association for the Advancement of Science), 2008-02, Vol.319 (5864), p.816-819

2008

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Psychometric properties of the quality of life in short statured youth (QoLISSY) questionnaire within the course of growth hormone treatment

Health and quality of life outcomes, 2019-03, Vol.17 (1), p.49-15, Article 49

2019

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Einfluss von psychosozialen Belastungsfaktoren auf das Längenwachstum

Klinische Pädiatrie, 2022-03, Vol.234 (2), p.61-67

2022

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MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

Human mutation, 2015-01, Vol.36 (1), p.87-97

2015

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Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors

The journal of clinical endocrinology and metabolism, 2010-10, Vol.95 (10), p.E229-E233

2010

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Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

Endocrine Connections, 2019-02, Vol.8 (2), p.86-94

2019

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Lebensqualität von kleinwüchsigen Kindern und Jugendlichen und Wachstumshormontherapie

Monatsschrift Kinderheilkunde, 2024-07, Vol.172 (7), p.615-622

2024

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Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity

Pediatric neurology, 2017-02, Vol.67, p.45-52

2017

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DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Scientific reports, 2015-07, Vol.5 (1), p.11649-11649, Article 11649

2015

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Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

Endocrine Connections, 2021-05, Vol.10 (5), p.561-569

2021

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Growth hormone treatment in children with short stature: impact of the diagnosis on parents

Journal of Pediatric Endocrinology and Metabolism, 2024-04, Vol.37 (4), p.326-335

2024

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Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

European journal of endocrinology, 2016-02, Vol.174 (2), p.177-186

2016

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Genetics in medicine, 2018-06, Vol.20 (6), p.630-638

2018

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Diffuse Encephalopathy Associated with Isolated Cerebral Langerhans Cell Histiocytosis

Pediatric neurology, 2016-09, Vol.62, p.62-65

2016

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Medizinische Betreuung von jungen Frauen mit Ullrich-Turner-Syndrom in Deutschland

Deutsche medizinische Wochenschrift, 2020-02, Vol.145 (4), p.e18-e23

2020

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Lebenssituation von jungen Frauen mit Ullrich-Turner-Syndrom nach dem Ende der Wachstumshormontherapie: Ergebnisse einer Umfrage in Deutschland

Deutsche medizinische Wochenschrift, 2019-07, Vol.144 (14), p.e87-e93

2019

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Chromosome 5q subtelomeric deletion syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2007-11, Vol.145C (4), p.372-376

2007

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Intellectual outcome, motor skills and BMI of children with congenital hypothyroidism: a population-based study

Acta Paediatrica, 2008-04, Vol.97 (4), p.447-450

2008

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Pediatric renal allograft transplantation does not normalize the increased cortisol/cortisone ratios of chronic renal failure

European journal of endocrinology, 2006-04, Vol.154 (4), p.555-561

2006

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First report of ectopic ACTH syndrome and PTHrP-induced hypercalcemia due to a hepatoblastoma in a child

European journal of endocrinology, 2010-04, Vol.162 (4), p.813-818

2010

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Recombinant Human Growth Hormone Activates Neuroprotective Growth Factors in Hypoxic Brain Injury in Neonatal Mice

Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort

Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs

Response to Letter to the Editor From Virú-Loza and Chávez-Nomberto: “Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort”

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

Psychometric properties of the quality of life in short statured youth (QoLISSY) questionnaire within the course of growth hormone treatment

Einfluss von psychosozialen Belastungsfaktoren auf das Längenwachstum

MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

Lebensqualität von kleinwüchsigen Kindern und Jugendlichen und Wachstumshormontherapie

Variable White Matter Atrophy and Intellectual Development in a Family With X-linked Creatine Transporter Deficiency Despite Genotypic Homogeneity

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

Growth hormone treatment in children with short stature: impact of the diagnosis on parents

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Diffuse Encephalopathy Associated with Isolated Cerebral Langerhans Cell Histiocytosis

Medizinische Betreuung von jungen Frauen mit Ullrich-Turner-Syndrom in Deutschland

Lebenssituation von jungen Frauen mit Ullrich-Turner-Syndrom nach dem Ende der Wachstumshormontherapie: Ergebnisse einer Umfrage in Deutschland

Chromosome 5q subtelomeric deletion syndrome

Intellectual outcome, motor skills and BMI of children with congenital hypothyroidism: a population-based study

Pediatric renal allograft transplantation does not normalize the increased cortisol/cortisone ratios of chronic renal failure

First report of ectopic ACTH syndrome and PTHrP-induced hypercalcemia due to a hepatoblastoma in a child

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