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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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Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

International journal of molecular sciences, 2023-04, Vol.24 (7), p.6601

2023

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Epidermal inclusion cyst of the thyroid: a rare case of a nodule-like structure at ultrasound

BJR case reports, 2020-12, Vol.6 (4), p.20200038

2020

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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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Nucleophilic−Alkylation−Reoxidation: A Functionalization Sequence for Single-Wall Carbon Nanotubes

Journal of the American Chemical Society, 2006-05, Vol.128 (20), p.6683-6689

2006

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Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1 variant

Gene, 2024-11, Vol.927, p.148707, Article 148707

2024

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Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant

Gene, 2024-11, Vol.927, p.148707, Article 148707

2024

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An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1 Y446C/Y446C mutation

Human molecular genetics, 2022-08, Vol.31 (17), p.2951-2963

2022

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Functionalization of single-walled carbon nanotubes by aromatic molecules studied by scanning tunneling microscopy

Physica Status Solidi (b), 2006-11, Vol.243 (13), p.3213-3216

2006

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An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation

Human molecular genetics, 2022-08, Vol.31 (17), p.2951-2963

2022

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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

American journal of human genetics, 2021-01, Vol.108 (1), p.115-133

2021

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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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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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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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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder

Genetics in medicine, 2023-08, Vol.25 (8), p.100871-100871, Article 100871

2023

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Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4

Thyroid (New York, N.Y.), 2023-07, Vol.33 (7), p.880-884

2023

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Meta-Analysis of DNA Methylation Datasets Shows Aberrant DNA Methylation of Thyroid Development or Function Genes in Down Syndrome

Thyroid (New York, N.Y.), 2023-01, Vol.33 (1), p.53-62

2023

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Peripheral Blood DNA Methylation Signatures and Response to Tofacitinib in Moderate-to-severe Ulcerative Colitis

Journal of Crohn's and colitis, 2024-08, Vol.18 (8), p.1179-1189

2024

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Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

Thyroid (New York, N.Y.), 2021-11, Vol.31 (11), p.1757-1762

2021

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An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

The journal of clinical endocrinology and metabolism, 2020-07, Vol.105 (7), p.2354-2366

2020

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Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician

Hormone research in paediatrics, 2019-09, Vol.91 (5), p.293-310

2019

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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, 2022-07

2022

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Reforming the male Tanner genital scale

Journal of Pediatric Endocrinology and Metabolism, 2020-03, Vol.33 (3), p.425-426

2020

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Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.479-489

2023

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Diagnosis and Management of Central Congenital Hypothyroidism

Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)

Epidermal inclusion cyst of the thyroid: a rare case of a nodule-like structure at ultrasound

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

Nucleophilic−Alkylation−Reoxidation: A Functionalization Sequence for Single-Wall Carbon Nanotubes

Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1 variant

Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1 Y446C/Y446C mutation

Functionalization of single-walled carbon nanotubes by aromatic molecules studied by scanning tunneling microscopy

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

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

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

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

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder

Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4

Meta-Analysis of DNA Methylation Datasets Shows Aberrant DNA Methylation of Thyroid Development or Function Genes in Down Syndrome

Peripheral Blood DNA Methylation Signatures and Response to Tofacitinib in Moderate-to-severe Ulcerative Colitis

Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β

An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature

DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

Towards a Rational and Efficient Diagnostic Approach in Children Referred for Tall Stature and/or Accelerated Growth to the General Paediatrician

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

Reforming the male Tanner genital scale

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

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