Genomes and Genes
Affiliation: University of Basel
- Effect of water deprivation on cognitive-motor performance in healthy men and womenGabor 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...
- Genetics of normal and abnormal thyroid development in humansGabor 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....
- Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric diseaseGabor 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...
- Changes in plasma copeptin, the c-terminal portion of arginine vasopressin during water deprivation and excess in healthy subjectsGabor 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...
- Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesisAurore 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...
- Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland developmentAurore Carre
INSERM U845, Universite Paris Descartes, Paris, France
PLoS ONE 6:e16752. 2011....
- 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...
- Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetusGabor 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)...
- 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 ITDGabor 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...
- Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndromeRaphaël 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...
- Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysisGabor Szinnai
Department of Pediatric Endocrinology, University Children s Hospital, Basel, Switzerland
Pediatrics 111:E132-9. 2003....
- Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigenMohammad Alimohammadi
University Hospital, Uppsala University, Uppsala, Sweden
N Engl J Med 358:1018-28. 2008....
- Dehydration does not influence cardiovascular reactivity to behavioural stress in young healthy humansLars 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...