Gabor Szinnai

Summary

Affiliation: University of Basel
Country: Switzerland

Publications

  1. ncbi request reprint Effect of water deprivation on cognitive-motor performance in healthy men and women
    Gabor Szinnai
    Division of Endocrinology, Diabetes and Clinical Nutrition, Department of Internal Medicine, University Hospital, CH 4031 Basel, Switzerland
    Am J Physiol Regul Integr Comp Physiol 289:R275-80. 2005
  2. doi request reprint Genetics of normal and abnormal thyroid development in humans
    Gabor Szinnai
    Division of Paediatric Endocrinology and Diabetology, University Children s Hospital Basel UKBB, Spitalstrasse 33, CH 4031 Basel, Switzerland Department of Biomedicine, University Basel, Spitalstrasse 33, CH 4031 Basel, Switzerland Electronic address
    Best Pract Res Clin Endocrinol Metab 28:133-50. 2014
  3. ncbi request reprint Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric disease
    Gabor Szinnai
    Paediatric Endocrinology and INSERM U845, Hopital Necker Enfants Malades, Paris, France
    Endocr Dev 10:173-87. 2007
  4. ncbi request reprint Changes in plasma copeptin, the c-terminal portion of arginine vasopressin during water deprivation and excess in healthy subjects
    Gabor Szinnai
    Division of Endocrinology, Diabetology, and Clinical Nutrition, University Hospital, CH 4031 Basel, Switzerland
    J Clin Endocrinol Metab 92:3973-8. 2007
  5. ncbi request reprint Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis
    Aurore Carre
    Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale U845 and Pediatric Endocrine Unit Assistance Publique Hôpitaux de PARIS, Hopital Necker Enfants Malades, Paris, France
    Hum Genet 122:467-76. 2007
  6. pmc Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development
    Aurore Carre
    INSERM U845, Universite Paris Descartes, Paris, France
    PLoS ONE 6:e16752. 2011
  7. pmc Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS)
    Martina Plasilova
    Research Group Human Genetics, Department of Biomedicine, University of Basel, and Division of Medical Genetics, University Children s Hospital, Basel, Switzerland
    PLoS ONE 6:e21433. 2011
  8. ncbi request reprint Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus
    Gabor Szinnai
    Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale Equipe Mixte 0363, Pediatric Endocrine Unit, Assistance Publique Hopitaux de Paris AP HP, Hopital Necker Enfants Malades, Paris, France
    J Clin Endocrinol Metab 92:70-6. 2007
  9. ncbi request reprint Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD
    Gabor Szinnai
    Service d Endocrinologie Pédiatrique and Institut National de la Santé et de la Recherche Médicale, Equipe Mixte INSERM 0363, Hopital Necker Enfants Malades, 149 rue de Sevres, F 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:1199-204. 2006
  10. doi request reprint Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome
    Raphaël Teissier
    INSERM U845, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France
    Horm Res Paediatr 77:146-51. 2012

Collaborators

Detail Information

Publications13

  1. ncbi request reprint Effect of water deprivation on cognitive-motor performance in healthy men and women
    Gabor Szinnai
    Division of Endocrinology, Diabetes and Clinical Nutrition, Department of Internal Medicine, University Hospital, CH 4031 Basel, Switzerland
    Am J Physiol Regul Integr Comp Physiol 289:R275-80. 2005
    ..Increased subjective task-related effort suggests that healthy volunteers exhibit cognitive compensating mechanisms for increased tiredness and reduced alertness during slowly progressive moderate dehydration...
  2. doi request reprint Genetics of normal and abnormal thyroid development in humans
    Gabor Szinnai
    Division of Paediatric Endocrinology and Diabetology, University Children s Hospital Basel UKBB, Spitalstrasse 33, CH 4031 Basel, Switzerland Department of Biomedicine, University Basel, Spitalstrasse 33, CH 4031 Basel, Switzerland Electronic address
    Best Pract Res Clin Endocrinol Metab 28:133-50. 2014
    ....
  3. ncbi request reprint Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric disease
    Gabor Szinnai
    Paediatric Endocrinology and INSERM U845, Hopital Necker Enfants Malades, Paris, France
    Endocr Dev 10:173-87. 2007
    ..In this context, MEN 2 has become a disease of the young child...
  4. ncbi request reprint Changes in plasma copeptin, the c-terminal portion of arginine vasopressin during water deprivation and excess in healthy subjects
    Gabor Szinnai
    Division of Endocrinology, Diabetology, and Clinical Nutrition, University Hospital, CH 4031 Basel, Switzerland
    J Clin Endocrinol Metab 92:3973-8. 2007
    ..Copeptin is the C-terminal part of provasopressin and has been shown to be a useful tool to indicate AVP concentration in critically ill patients...
  5. ncbi request reprint Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis
    Aurore Carre
    Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale U845 and Pediatric Endocrine Unit Assistance Publique Hôpitaux de PARIS, Hopital Necker Enfants Malades, Paris, France
    Hum Genet 122:467-76. 2007
    ..We conclude that FOXE1 through its alanine containing stretch modulates significantly the risk of TD occurrence, enhancing a mechanism linking an alanine containing transcription factor to disease...
  6. pmc Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development
    Aurore Carre
    INSERM U845, Universite Paris Descartes, Paris, France
    PLoS ONE 6:e16752. 2011
    ....
  7. pmc Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS)
    Martina Plasilova
    Research Group Human Genetics, Department of Biomedicine, University of Basel, and Division of Medical Genetics, University Children s Hospital, Basel, Switzerland
    PLoS ONE 6:e21433. 2011
    ..Finally, this study correlates reduced TWIST2 and OPG expression with increased osteocalcin levels, thereby linking altered bone remodeling to energy homeostasis in hereditary HGPS...
  8. ncbi request reprint Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus
    Gabor Szinnai
    Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale Equipe Mixte 0363, Pediatric Endocrine Unit, Assistance Publique Hopitaux de Paris AP HP, Hopital Necker Enfants Malades, Paris, France
    J Clin Endocrinol Metab 92:70-6. 2007
    ..Terminal differentiation of the human thyroid is characterized by the onset of follicle formation and thyroid hormone synthesis at 11 gestational weeks (GW)...
  9. ncbi request reprint Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD
    Gabor Szinnai
    Service d Endocrinologie Pédiatrique and Institut National de la Santé et de la Recherche Médicale, Equipe Mixte INSERM 0363, Hopital Necker Enfants Malades, 149 rue de Sevres, F 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:1199-204. 2006
    ..Defects of the sodium/iodide symporter gene (NIS) have been shown to cause ITD...
  10. doi request reprint Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome
    Raphaël Teissier
    INSERM U845, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France
    Horm Res Paediatr 77:146-51. 2012
    ..NKX2.1 mutations have been identified in patients displaying complete or partial brain-lung-thyroid syndrome, which can include benign hereditary chorea (BHC), hypothyroidism and/or lung disease...
  11. ncbi request reprint Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis
    Gabor Szinnai
    Department of Pediatric Endocrinology, University Children s Hospital, Basel, Switzerland
    Pediatrics 111:E132-9. 2003
    ....
  12. doi request reprint Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
    Mohammad Alimohammadi
    University Hospital, Uppsala University, Uppsala, Sweden
    N Engl J Med 358:1018-28. 2008
    ....
  13. ncbi request reprint Dehydration does not influence cardiovascular reactivity to behavioural stress in young healthy humans
    Lars Schwabe
    Department of Clinical Physiology, Institute of Psychobiology, University of Trier, Johanniterufer 15, 54290 Trier, Germany
    Clin Physiol Funct Imaging 27:291-7. 2007
    ..The effects on heart rate reactivity are small. However, stress-induced parasympathetic withdrawal may be fortified during dehydration in females, which suggests controlling for water intake when studying such responses...