Search Results - "VAN TROTSENBURG, A. S. Paul"

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    Mutations in IRS4 are associated with central hypothyroidism by Heinen, Charlotte A, de Vries, Emmely M, Alders, Mariëlle, Bikker, Hennie, Zwaveling-Soonawala, Nitash, van den Akker, Erica L T, Bakker, Boudewijn, Hoorweg-Nijman, Gera, Roelfsema, Ferdinand, Hennekam, Raoul C, Boelen, Anita, van Trotsenburg, A S Paul, Fliers, Eric

    Published in Journal of medical genetics (01-10-2018)
    “…Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence…”
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    Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates by Henneman, Peter, Bouman, Arjan, Mul, Adri, Knegt, Lia, van der Kevie-Kersemaekers, Anne-Marie, Zwaveling-Soonawala, Nitash, Meijers-Heijboer, Hanne E J, van Trotsenburg, A S Paul, Mannens, Marcel M

    Published in PloS one (30-03-2018)
    “…Down syndrome (DS) is the most frequent genetic cause of intellectual disability. Despite the fact that more than 50 years have passed since the discovery of…”
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    The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice by Hu, Yalan, Falize, Kim, van Trotsenburg, A S Paul, Hennekam, Raoul, Fliers, Eric, Bruinstroop, Eveline, Boelen, Anita

    Published in European thyroid journal (01-10-2023)
    “…Transducin β-like 1 X-linked receptor 1 (TBL1XR1) is a WD40 repeat-containing protein and part of the corepressor complex SMRT/NCoR that binds to the thyroid…”
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    Methimazole-induced remission rates in pediatric Graves’ disease: a systematic review by Lieshout, Jelmer M van, Mooij, Christiaan F, Trotsenburg, A S Paul van, Zwaveling-Soonawala, Nitash

    Published in European journal of endocrinology (01-08-2021)
    “…Objective Comparison of studies on remission rates in pediatric Graves’ disease is complicated by lack of uniformity in treatment protocols, remission…”
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    2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism by Persani, Luca, Brabant, Georg, Dattani, Mehul, Bonomi, Marco, Feldt-Rasmussen, Ulla, Fliers, Eric, Gruters, Annette, Maiter, Dominique, Schoenmakers, Nadia, van Trotsenburg, A.S. Paul

    Published in European thyroid journal (01-10-2018)
    “…Objectives: Central hypothyroidism (CeH) is a rare form of hypothyroidism characterized by insufficient thyroid stimulation due to disturbed pituitary and/or…”
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    TSH and FT4 Concentrations in Congenital Central Hypothyroidism and Mild Congenital Thyroidal Hypothyroidism by Zwaveling-Soonawala, Nitash, van Trotsenburg, A S Paul, Verkerk, Paul H

    “…Abstract Context In central hypothyroidism (CeH), free thyroxine (FT4) concentrations are low, whereas thyrotropin (TSH) concentrations may be low, normal, or…”
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    Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients by Zwaveling-Soonawala, Nitash, Alders, Marielle, Jongejan, Aldo, Kovačič, Lidija, Duijkers, Floor A, Maas, Saskia M, Fliers, Eric, van Trotsenburg, A S Paul, Hennekam, Raoul C

    “…Abstract Context Pituitary stalk interruption syndrome (PSIS) consists of a small/absent anterior pituitary lobe, an interrupted/absent pituitary stalk, and an…”
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    Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up by Lauffer, Peter, van Trotsenburg, A. S. Paul, Zwaveling-Soonawala, Nitash

    Published in European journal of pediatrics (01-07-2021)
    “…Screening for hypo- or hyperthyroidism in adults is generally done by measuring the serum thyrotropin (thyroid-stimulating hormone, TSH) concentration. This is…”
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    The Severity of Congenital Hypothyroidism of Central Origin Should Not Be Underestimated by Zwaveling-Soonawala, Nitash, van Trotsenburg, A. S. Paul, Verkerk, Paul H

    “…Context: Congenital hypothyroidism (CH) may be of thyroidal (CHT) or central origin (CHC). Worldwide, most neonatal screening programs are TSH-based and…”
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    Diagnosis and Management of Central Congenital Hypothyroidism by Lauffer, Peter, Zwaveling-Soonawala, Nitash, Naafs, Jolanda C, Boelen, Anita, van Trotsenburg, A S Paul

    Published in Frontiers in endocrinology (Lausanne) (09-09-2021)
    “…Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid…”
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    Health-related quality of life in patients with early-detected central congenital hypothyroidism by Naafs, Jolanda Christine, Marchal, Jan Pieter, Verkerk, Paul Hendrikus, Fliers, Eric, van Trotsenburg, Adrianus Sarinus Paulus, Zwaveling-Soonawala, Nitash

    “…Central congenital hypothyroidism (CH) requires lifelong medical treatment. The majority of children with central CH have multiple pituitary hormone…”
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    Central Congenital Hypothyroidism due to Gestational Hyperthyroidism: Detection Where Prevention Failed by Kempers, Marlies J. E., van Tijn, David A., van Trotsenburg, A. S. Paul, de Vijlder, Jan J. M., Wiedijk, Brenda M., Vulsma, Thomas

    “…Much worldwide attention is given to the adverse effects of maternal Graves’ disease on the fetal and neonatal thyroid and its function. However, reports…”
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    Mortality in Children With Early-Detected Congenital Central Hypothyroidism by Zwaveling-Soonawala, Nitash, Naafs, Jolanda C, Verkerk, Paul H, van Trotsenburg, A S Paul

    “…Abstract Context Approximately 60% to 80% of patients with congenital central hypothyroidism (CH-C) have multiple pituitary hormone deficiencies (MPHDs),…”
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    Pediatric Graves’ orbitopathy: a multicentre study by Ionescu, Ioana C., Trotsenburg, Paul A. S., Paridaens, Dion, Tanck, Michael, Mooij, Christiaan F., Cagienard, Eliane, Kalmann, Rachel, Pakdel, Farzad, Meeren, Stijn, Saeed, Peerooz

    Published in Acta ophthalmologica (Oxford, England) (01-09-2022)
    “…Purpose Graves’ orbitopathy (GO) is a rare condition in children often considered to be a less severe condition than at an older age. The aim of our study was…”
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    Cognitive and Motor Outcome in Patients with Early-Detected Central Congenital Hypothyroidism Compared with Siblings by Naafs, Jolanda C, Marchal, Jan Pieter, Fliers, Eric, Verkerk, Paul H, Luijten, Michiel A J, Boelen, Anita, van Trotsenburg, A S Paul, Zwaveling-Soonawala, Nitash

    “…Abstract Context Early treatment of primary congenital hypothyroidism (CH) prevents irreversible brain damage. Contrary to primary CH, outcome studies on…”
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