van Trotsenburg, A S Paul

A specific mutation in TBL1XR1 causes Pierpont syndrome

Heinen, C. A., Jongejan, A., Watson, P. J., Redeker, B., Boelen, A., Boudzovitch-Surovtseva, O., Forzano, F., Hordijk, R., Kelley, R., Olney, A. H., et al. (2016) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 73

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

van Gucht, A. L. M., Meima, M. E., Zwaveling-Soonawala, N., Visser, W. E., Fliers, E., Wennink, J. M. B., Henny, C., Visser, T. J., Peeters, R. P., & van Trotsenburg, A. S. P. (2016) · Thyroid

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 67

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., et al. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 65

Trisomy 21 Causes Persistent Congenital Hypothyroidism Presumably of Thyroidal Origin

Trotsenburg, A. S. P. V., Kempers, M. J. E., Endert, E., Tijssen, J. G. P., Vijlder, J. J. M. D., & Vulsma, T. (2006) · Thyroid

Thyroid Disorders and TreatmentsDown syndrome and intellectual disability research

Cited by 53

Mutations in IRS4 are associated with central hypothyroidism

Heinen, C. A., de Vries, E. M., Alders, M., Bikker, H., Zwaveling-Soonawala, N., van den Akker, E. L. T., Bakker, B., Hoorweg-Nijman, G., Roelfsema, F., Hennekam, R. C., et al. (2018) · Journal of Medical Genetics

Thyroid Disorders and TreatmentsHypothalamic control of reproductive hormones

Cited by 38

Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening

Naafs, J. C., Verkerk, P. H., Fliers, E., van Trotsenburg, A. S. P., & Zwaveling-Soonawala, N. (2020) · European Journal of Endocrinology

Pituitary Gland Disorders and TreatmentsThyroid Disorders and Treatments

Cited by 35

Effects of T3 treatment on brown adipose tissue and energy expenditure in a patient with craniopharyngioma and hypothalamic obesity

van Santen, H. M., Schouten-Meeteren, A. Y., Serlie, M., Meijneke, R. W. H., van Trotsenburg, A. S., Verberne, H., Holleman, F., & Fliers, E. (2015) · Journal of Pediatric Endocrinology and Metabolism

Adipose Tissue and MetabolismPituitary Gland Disorders and Treatments

Cited by 32

Mild deficits in attentional control in patients with the IGSF 1 deficiency syndrome

Joustra, S. D., Andela, C. D., Oostdijk, W., van Trotsenburg, A. S. P., Fliers, E., Wit, J. M., Pereira, A. M., Middelkoop, H. A. M., & Biermasz, N. R. (2016) · Clinical Endocrinology

Thyroid Disorders and TreatmentsImmunodeficiency and Autoimmune Disorders

Cited by 21