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Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

The journal of clinical endocrinology and metabolism, 2018-02, Vol.103 (2), p.415-428

2018

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Diagnosis and Management of Central Congenital Hypothyroidism

Frontiers in endocrinology (Lausanne), 2021-09, Vol.12, p.686317-686317

2021

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Age-Specific Reference Intervals for Plasma Free Thyroxine and Thyrotropin in Term Neonates During the First Two Weeks of Life

Thyroid (New York, N.Y.), 2020-08, Vol.30 (8), p.1106-1111

2020

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Tocilizumab for the fifth progression of cystic childhood craniopharyngioma—a case report

Frontiers in endocrinology (Lausanne), 2023-10, Vol.14

2023

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Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Annals of Pediatric Endocrinology & Metabolism, 2021, 26(4), , pp.278-283

2021

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Resistance to Thyroid Hormone Alpha in an 18-Month-Old Girl: Clinical, Therapeutic, and Molecular Characteristics

Thyroid (New York, N.Y.), 2016-03, Vol.26 (3), p.338-346

2016

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Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates

PloS one, 2018-03, Vol.13 (3), p.e0194938-e0194938

2018

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Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?

European thyroid journal, 2023-07, Vol.12 (4), p.1-9

2023

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Complications After Thyroidectomy in Children: Lymph Node Dissection Is a Risk Factor for Permanent Hypocalcemia

Frontiers in endocrinology (Lausanne), 2021-09, Vol.12, p.717769-717769

2021

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Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up

European journal of pediatrics, 2021-07, Vol.180 (7), p.2333-2338

2021

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Low FT4 Concentrations around the Start of Recombinant Human Growth Hormone Treatment: Predictor of Congenital Structural Hypothalamic-Pituitary Abnormalities?

Hormone research in paediatrics, 2018-01, Vol.89 (2), p.98-107

2018

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Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Journal of clinical research in pediatric endocrinology, 2024-03, Vol.16 (1), p.95-101

2024

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Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Journal of clinical medicine, 2022-10, Vol.11 (21), p.6289

2022

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Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model

European thyroid journal, 2023-12, Vol.12 (6), p.1-10

2023

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Variants in KAT6A and pituitary anomalies

American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2562-2565

2017

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Frequent Occurrence of the Triphasic Response (Diabetes Insipidus/Hyponatremia/Diabetes Insipidus) after Surgery for Craniopharyngioma in Childhood

Hormone research in paediatrics, 2011-01, Vol.76 (1), p.22-26

2011

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Approach to the Patient: Challenging Cases of Pediatric Thyrotoxicosis

The journal of clinical endocrinology and metabolism, 2024-08

2024

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Methimazole-induced remission rates in pediatric Graves’ disease: a systematic review

European journal of endocrinology, 2021-08, Vol.185 (2), p.219-229

2021

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TSH and FT4 Concentrations in Congenital Central Hypothyroidism and Mild Congenital Thyroidal Hypothyroidism

The journal of clinical endocrinology and metabolism, 2018-04, Vol.103 (4), p.1342-1348

2018

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Analysis of Serum Free Thyroxine Concentrations in Healthy Term Neonates Underlines Need for Local and Laboratory-Specific Reference Interval: A Systematic Review and Meta-Analysis of Individual Participant Data

Thyroid (New York, N.Y.), 2024-05, Vol.34 (5), p.559-565

2024

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Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS

Clinical chemistry and laboratory medicine, 2024-10

2024

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Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB : A Case Report

Thyroid (New York, N.Y.), 2022-04, Vol.32 (4), p.472-474

2022

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Mutations in TBL1X Are Associated With Central Hypothyroidism

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4564-4573

2016

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Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

Diagnosis and Management of Central Congenital Hypothyroidism

Age-Specific Reference Intervals for Plasma Free Thyroxine and Thyrotropin in Term Neonates During the First Two Weeks of Life

Tocilizumab for the fifth progression of cystic childhood craniopharyngioma—a case report

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

Resistance to Thyroid Hormone Alpha in an 18-Month-Old Girl: Clinical, Therapeutic, and Molecular Characteristics

Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates

Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?

Complications After Thyroidectomy in Children: Lymph Node Dissection Is a Risk Factor for Permanent Hypocalcemia

Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up

Low FT4 Concentrations around the Start of Recombinant Human Growth Hormone Treatment: Predictor of Congenital Structural Hypothalamic-Pituitary Abnormalities?

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients

Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model

Variants in KAT6A and pituitary anomalies

Frequent Occurrence of the Triphasic Response (Diabetes Insipidus/Hyponatremia/Diabetes Insipidus) after Surgery for Craniopharyngioma in Childhood

Approach to the Patient: Challenging Cases of Pediatric Thyrotoxicosis

Methimazole-induced remission rates in pediatric Graves’ disease: a systematic review

Expert management of congenital portosystemic shunts and their complicationsKey points

Expert management of congenital portosystemic shunts and their complications

TSH and FT4 Concentrations in Congenital Central Hypothyroidism and Mild Congenital Thyroidal Hypothyroidism

Analysis of Serum Free Thyroxine Concentrations in Healthy Term Neonates Underlines Need for Local and Laboratory-Specific Reference Interval: A Systematic Review and Meta-Analysis of Individual Participant Data

Neonatal reference intervals for serum steroid hormone concentrations measured by LC-MS/MS

Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB : A Case Report

Mutations in TBL1X Are Associated With Central Hypothyroidism

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