Klinische Forschung
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Publications Szinnai Gabor

Computing optimal drug dosing with OptiDose: implementation in NONMEM.

Bachmann F; Koch G; Bauer RJ; Steffens B; Szinnai G; Pfister M; Schropp J. Journal of Pharmacokinetics and Pharmacodynamics. 2023.

New model of glucose-insulin regulation characterizes effects of physical activity and facilitates personalized treatment evaluation in children and adults with type 1 diabetes.

Deichmann J; Bachmann S; Burckhardt MA; Pfister M; Szinnai G; Kaltenbach HM. PLoS Computational Biology. 2023.

Semimechanistic modeling of copeptin and aldosterone kinetics and dynamics in response to rehydration treatment for diabetic ketoacidosis in children.

Otto ME; Burckhardt MA; Szinnai G; Pfister M; Gotta V. CPT: pharmacometrics & systems pharmacology. 2023.

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.

Bösch F; Landolt MA; Baumgartner MR; Fernandez S; Forny P; Gautschi M; Grünert SC; Häberle J; Horvath C; Karall D; Lampis D; Rohrbach M; Scholl-Bürgi S; Szinnai G; Huemer M. Molecular genetics and metabolism reports. 2022.

Endocrine Disorders in Children with Brain Tumors: At Diagnosis, after Surgery, Radiotherapy and Chemotherapy.

Claude F; Ubertini G; Szinnai G. Children. 2022.

Fear of hypoglycemia and quality of life in young people with type 1 diabetes and their parents in the era of sensor glucose monitoring.

Glocker V; Bachmann S; Hess M; Szinnai G; Burckhardt MA. Frontiers in endocrinology. 2022.

Glucagon-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a double-blind, randomized, placebo-controlled study.

Atila C; Gaisl O; Vogt DR; Werlen L; Szinnai G; Christ-Crain M. European journal of endocrinology. 2022.

Lifetime risk and health-care burden of diabetic ketoacidosis: A population-based study.

Ebrahimi F; Kutz A; Christ ER; Szinnai G. Frontiers in endocrinology. 2022.

Machine learning-based algorithm as an innovative approach for the differentiation between diabetes insipidus and primary polydipsia in clinical practice.

Nahum U; Refardt J; Chifu I; Fenske WK; Fassnacht M; Szinnai G; Christ-Crain M; Pfister M. European journal of endocrinology. 2022.

The kinetic profiles of copeptin and mid regional proadrenomedullin (MR-proADM) in pediatric lower respiratory tract infections.

Baumann P; Fuchs A; Gotta V; Ritz N; Baer G; Bonhoeffer JM; Buettcher M; Heininger U; Szinnai G; Bonhoeffer J; ProPAED study group. PLoS ONE. 2022.

Treatment of diabetes mellitus in childhood and adolescence, today and tomorrow: a view of Germany in comparison to Belgium, Austria and Switzerland Versorgung von Diabetes mellitus im Kindes- und Jugendalter, heute und morgen: ein Blick auf Deutschland im Vergleich zu Belgien, Österreich und der Schweiz

Marg W.; Rami-Merhar B.; Casteels K.; Szinnai G.; Kapellen T.; Neu A.; Paape D.; Holl R.W.. Monatsschrift fur Kinderheilkunde. 2022.

Trends and outcomes of children, adolescents, and adults hospitalized with inherited metabolic disorders: A population-based cohort study.

Hauser SI; Gregoriano C; Koehler H; Ebrahimi F; Szinnai G; Schuetz P; Mueller B; Kutz A. JIMD reports. 2022.

Autonomic cardiac regulation during spontaneous nocturnal hypoglycemia in children with type 1 diabetes.

Bachmann S; Auderset A; Burckhardt MA; Szinnai G; Hess M; Zumsteg U; Denhaerynck K; Donner B. Pediatric diabetes. 2021.

Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

van Trotsenburg P; Stoupa A; Léger J; Rohrer T; Peters C; Fugazzola L; Cassio A; Heinrichs C; Beauloye V; Pohlenz J; Rodien P; Coutant R; Szinnai G; Murray P; Bartés B; Luton D; Salerno M; de Sanctis L; Vigone M; Krude H; Persani L; Polak M. Thyroid. 2021.

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).

Lenherr N; Christodoulou J; Duley J; Dobritzsch D; Fairbanks L; Datta AN; Filges I; Gürtler N; Roelofsen J; van Kuilenburg ABP; Kemper C; West EE; Szinnai G; Huemer M. Molecular genetics and metabolism reports. 2021.

Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.

Koch G; Steffens B; Leroux S; Gotta V; Schropp J; Gächter P; Bachmann F; Welzel T; Janner M; L'Allemand D; Konrad D; Szinnai G; Pfister M. Journal of Pharmacokinetics and Pharmacodynamics. 2021.

OptiDose: Computing the Individualized Optimal Drug Dosing Regimen Using Optimal Control.

Bachmann F; Koch G; Pfister M; Szinnai G; Schropp J. Journal of optimization theory and applications. 2021.

Pregnancy and pregnancy outcomes after hematopoietic stem cell transplantation in childhood: A cross-sectional survey of the EBMT Pediatric Diseases Working Party

Diesch-Furlanetto T.; Rovo A.; Galimard J.E.; Szinnai G.; Dalissier A.; Sedlacek P.; Bodova I.; Roussou V.K.; Gibson B.E.; Poire X.; Fagioli F.; Pichler H.; Faraci M.; Gumy-Pause F.G.; Dalle J.H.; Balduzzi A.; Bader P.; Corbacioglu S.. Human reproduction (Oxford, England). 2021.

Simulation-Based Evaluation of Treatment Adjustment to Exercise in Type 1 Diabetes.

Deichmann J; Bachmann S; Burckhardt MA; Szinnai G; Kaltenbach HM. Frontiers in endocrinology. 2021.

Copeptin Kinetics and Its Relationship to Osmolality During Rehydration for Diabetic Ketoacidosis in Children.

Burckhardt MA; Gotta V; Beglinger S; Renggli L; Bachmann S; Hess M; Rentsch K; Pfister M; Koch G; Davis EA; Zumsteg U; Jones TW; Szinnai G. Journal of Clinical Endocrinology and Metabolism. 2020.

Ex vivo model for elucidating the functional and structural differentiation of the embryonic mouse thyroid.

Carré A; Gawade S; Dertschnig S; Hafen K; Polak M; Szinnai G. MOLECULAR AND CELLULAR ENDOCRINOLOGY. 2020.

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.

Stoupa A; Al Hage Chehade G; Chaabane R; Kariyawasam D; Szinnai G; Hanein S; Bole-Feysot C; Fourrage C; Nitschke P; Thalassinos C; Pinto G; Mnif M; Baron S; De Kerdanet M; Reynaud R; Barat P; Hachicha M; Belguith N; Polak M; Carré A. Frontiers in endocrinology. 2020.

Arginine-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a prospective diagnostic study.

Winzeler B; Cesana-Nigro N; Refardt J; Vogt DR; Imber C; Morin B; Popovic M; Steinmetz M; Sailer CO; Szinnai G; Chifu I; Fassnacht M; Christ-Crain M. The Lancet. 2019.

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.

Jackson CB; Huemer M; Bolognini R; Martin F; Szinnai G; Donner BC; Richter U; Battersby BJ; Nuoffer JM; Suomalainen A; Schaller A. Human Molecular Genetics. 2019.

Copeptin kinetics and its relationship to osmolality during rehydration for diabetic ketoacidosis in children: an observational study

Burckhardt, Marie-Anne; Beglinger, Svetlana; Gotta, Verena; Renggli, Luzia; Bachmann, Sara; Hess, Melanie; Rentsch, Katharina; Koch, Gilbert; Zumsteg, Urs; Jones, Timothy; Pfister, Marc; Szinnai, Gabor. Hormone research in paediatrics. 2019.

Correction to: Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism (Thyroid (2019) 29:7 (1018-1022) DOI: 10.1089/thy.2018.0461)

Dufort G.; Larrivee-Vanier S.; Eugene D.; De Deken X.; Seebauer B.; Heinimann K.; Levesque S.; Gravel S.; Szinnai G.; Van Vliet G.; Deladoey J.. Thyroid. 2019.

Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.

Malone SA; Papadakis GE; Messina A; Mimouni NEH; Trova S; Imbernon M; Allet C; Cimino I; Acierno J; Cassatella D; Xu C; Quinton R; Szinnai G; Pigny P; Alonso-Cotchico L; Masgrau L; Maréchal JD; Prevot V; Pitteloud N; Giacobini P. Elife. 2019.

Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report.

Sasivari Z; Szinnai G; Seebauer B; Konrad D; Lang-Muritano M. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. 2019.

Mutations in MRPS14 cause intellectual disability, neonatal lactic acidosis, cachexia and hypertrophic cardiomyopathy with distinct dysmorphic features

Jackson, C. B.; Huemer, M.; Bolognini, R.; Martin, F.; Donner, B.; Szinnai, G.; Nuoffer, J.; Wartiovaara, A.; Schaller, A.. European journal of human genetics : EJHG. 2019.

What hypoglycemia does to the heart: Impact of nocturnal hypoglycemia on cardiac repolarization in diabetic children

Bachmann, Sara; Auderset, Anne; Zumsteg, Urs; Szinnai, Gabor; Donner, Birgit. Hormone research in paediatrics. 2019.

Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.

Dufort G; Larrivée-Vanier S; Eugène D; De Deken X; Seebauer B; Heinimann K; Lévesque S; Gravel S; Szinnai G; Van Vliet G; Deladoëy J. Thyroid. 2019.

Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation

Carre, Aurore; Stoupa, Athanasia; Adam, Frederic; Kariyawasam, Dulanjalee; Strassel, Catherine; Gawade, Sanjay; Szinnai, Gabor; Kauskot, Alexandre; Lasne, Dominique; Janke, Carsten; Natarajan, Kathiresan; Schmitt, Alain; Bole-Feysot, Christine; Nitschke, Patrick; Leger, Juliane; Jabot-Hanin, Fabienne; Tores, Frederic; Michel, Anita; Munnich, Arnold; Besmond, Claude; Scharfmann, Raphael; Lanza, Francois; Borgel, Delphine; Polak, Michel. Hormone research in paediatrics. 2018.

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Cassatella D.; Howard S.R.; Acierno J.S.; Xu C.; Papadakis G.E.; Santoni F.A.; Dwyer A.A.; Santini S.; Sykiotis G.P.; Chambion C.; Meylan J.; Marino L.; Favre L.; Li J.; Liu X.; Zhang J.; Bouloux P.-M.; De Geyter C.; De Paepe A.; Dhillo W.S.; Ferrara J.-M.; Hauschild M.; Lang-Muritano M.; Lemke J.R.; Fluck C.; Nemeth A.; Phan-Hug F.; Pignatelli D.; Popovic V.; Pekic S.; Quinton R.; Szinnai G.; L'Allemand D.; Konrad D.; Sharif S.; Iyidir O.T.; Stevenson B.J.; Yang H.; Dunkel L.; Pitteloud N.. European journal of endocrinology. 2018.

Cytokine kinetic profiles in children with acute lower respiratory tract infection: a post hoc descriptive analysis from a randomized control trial

Fuchs A.; Gotta V.; Decker M.-L.; Szinnai G.; Baumann P.; Bonhoeffer J.; Ritz N.; Baer G.; Berthet G.; Bonhoeffer J.M.; Buettcher M.; Gambon M.; Heininger U.; Mueller B.; Schaad U.B.; Schuetz P.; Trachsel D.. Clinical Microbiology and Infection. 2018.

DUOX2 Deficiency in Quebec: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism

Dufort, Gabrielle; Larrivee-Vanier, Stephanie; Eugene, Dardye; De Deken, Xavier; Heinimann, Karl; Szinnai, Gabor; Van Viet, Guy; Deladoey, Johnny. Hormone research in paediatrics. 2018.

Jod - das Spurenelement als Schlüssel für normale Entwicklung und Wachstum

Szinnai G. . 2018.

Severe Disruption of Water and Electrolyte Balance After Appendectomy: A Case Report.

Bossong O; Rudin C; Szinnai G; Erb TO; Moll J. A&A practice. 2018.


Tacke, Uta; Guzman, Raphael; Prufer, Friederike; Papachristofilou, Alexandros; Szinnai, Gabor; Wondrusch, Christine; Gutzwiller, Janine; Heinzelmann, Marianne; Moschlin, Katja; Diesch, Tamara; Scheinemann, Katrin. Neuro-Oncology. 2018.

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

Stoupa A; Adam F; Kariyawasam D; Strassel C; Gawade S; Szinnai G; Kauskot A; Lasne D; Janke C; Natarajan K; Schmitt A; Bole-Feysot C; Nitschke P; Léger J; Jabot-Hanin F; Tores F; Michel A; Munnich A; Besmond C; Scharfmann R; Lanza F; Borgel D; Polak M; Carré A. EMBO Molecular Medicine. 2018.

Yearbook in Paediatric Endocrinology, Chapter Thyroid

Stoupa, A; Szinnai, G. . 2018.

Drivers of antibiotic prescribing in children and adolescents with febrile lower respiratory tract infections.

Gotta V; Baumann P; Ritz N; Fuchs A; Baer G; Bonhoeffer JM; Heininger U; Szinnai G; Bonhoeffer J; ProPAED study group. PLoS ONE. 2017.

Pediatric Endocrinology and Inborn Errors of Metabolism; Disorders of the Thyroid Gland

Polak, M; Refetoff, S; Szinnai, G; van Vliet, G. . 2017.

Phenylketonuria and Hirschsprung Disease—A Report of an Unusual Neonatal Presentation.

Lenherr, N; Pfeifle, VA; Holland-Cunz, S; Sluka, SHM; Thöny, B; Szinnai, G; Huemer, M; Rohrbach, M; Fingerhut, R. . 2017.

Procalcitonin for Diagnostics and Treatment Decisions in Pediatric Lower Respiratory Tract Infections.

Baumann P; Baer G; Bonhoeffer J; Fuchs A; Gotta V; Heininger U; Ritz N; Szinnai G; Bonhoeffer J. Frontiers in Pediatrics. 2017.


Stoupa, Athanasia; Gueriouz, Manelle; Karyiawasam, Dulanjalee; Hanein, Sylvain; Bole-Feysot, Christine; Deladoey, Johnny; Szinnai, Gabor; Polak, Michel; Carre, Aurore. Hormone research in paediatrics. 2017.

Yearbook in Paediatric Endocrinology 2017, Chapter: Thyroid

Stoupa, A; Gawade, S; Szinnai, G. . 2017.

Cell Growth Dynamics in Embryonic and Adult Mouse Thyroid Revealed by a Novel Approach to Detect Thyroid Gland Subpopulations.

Gawade S; Mayer C; Hafen K; Barthlott T; Krenger W; Szinnai G. Thyroid. 2016.

Fertility preservation in pediatric and adolescent cancer patients in Switzerland: A qualitative cross-sectional survey

Diesch T.; von der Weid N.X.; Szinnai G.; Schaedelin S.; De Geyter C.; Rovo A.. Cancer epidemiology. 2016.

Yearbook in Paediatric Endocrinology, ChapterThyroid

Gawade,S; Stoupa,A; Szinnai,G. . 2016.

Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

Oliveira Cerqueira, Taise Lima; Carre, Aurore; Chevrier, Lucie; Szinnai, Gabor; Tron, Elodie; Leger, Juliane; Cabrol, Sylvie; Queinnec, Chrystelle; De Roux, Nicolas; Castanet, Mireille; Polak, Michel; Ramos, Helton Estrela. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. 2015.

Paediatric Thyroid Disorders: New Insights

Polak, Michel; Szinnai, Gabor. Hormone research in paediatrics. 2015.

Tumor-associated FGF-23-induced hypophosphatemic rickets in children: a case report and review of the literature.

Burckhardt MA; Schifferli A; Krieg AH; Baumhoer D; Szinnai G; Rudin C. Pediatric Nephrology. 2015.

Yearbook of Paediatric Endocrinology, Chapter Thyroid

Szinnai,G; Stoupa,A; Kariyawasam,D; Gawade,S; Carre,A; Polak,M. . 2015.

A copeptin-based classification of the osmoregulatory defects in the syndrome of inappropriate antidiuresis.

Fenske WK; Christ-Crain M; Hörning A; Simet J; Szinnai G; Fassnacht M; Rutishauser J; Bichet DG; Störk S; Allolio B. Journal of the American Society of Nephrology. 2014.

Cardiovascular biomarkers in preeclampsia at triage.

Wellmann S; Benzing J; Fleischlin S; Morgenthaler N; Fouzas S; Bührer CA; Szinnai G; Burkhardt T; Lapaire O. Fetal Diagnosis and Therapy. 2014.

Clinical case seminar in pediatric thyroid disease.

Szinnai G; Léger J; Bauer AJ; Pearce EN; Ramos HE; Canalli MH; Onigata K; Elisei R; Radetti G; Polak M; Van Vliet G; Deladoëy J. Endocr Dev. 2014.

Clinical case seminar in pediatric thyroid disease.

Szinnai G; Léger J; Bauer AJ; Pearce EN; Ramos HE; Canalli MH; Onigata K; Elisei R; Radetti G; Polak M; Van Vliet G; Deladoëy J. Endocr Dev. 2014.

Clinical genetics of congenital hypothyroidism.

Szinnai G. Endocr Dev. 2014.

Clinical genetics of congenital hypothyroidism.

Szinnai G. Endocr Dev. 2014.

Endocrine Development

Szinnai,G. . 2014.

European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

Leger, Juliane; Olivieri, Antonella; Donaldson, Malcolm; Torresani, Toni; Krude, Heiko; van Vliet, Guy; Polak, Michel; Butler, Gary. Journal of Clinical Endocrinology and Metabolism. 2014.

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

Ramos HE; Carré A; Chevrier L; Szinnai G; Tron E; Cerqueira TL; Léger J; Cabrol S; Puel O; Queinnec C; De Roux N; Guillot L; Castanet M; Polak M. European journal of endocrinology. 2014.

Genetics of normal and abnormal thyroid development in humans.

Szinnai G. Best practice & research. Clinical endocrinology & metabolism. 2014.


Szinnai G.. . 2014.

Resistance to thyroid hormone.

Onigata K; Szinnai G. Endocr Dev. 2014.

Sexual disparity of copeptin in healthy newborn infants.

Burckhardt MA; Wellmann M; Fouzas S; Lapaire O; Burkhardt T; Benzing J; Bührer C; Szinnai G; Wellmann S. Journal of Clinical Endocrinology and Metabolism. 2014.


Szinnai,G; Stoupa,A; Carré,A; Castanet,M; Polak,M. . 2014.

Copeptin as a marker for arginine-vasopressin/antidiuretic hormone secretion in the diagnosis of paraneoplastic syndrome of inappropriate ADH secretion

Wuttke A.; Dixit K.C.; Szinnai G.; Werth S.C.; Haagen U.; Christ-Crain M.; Morgenthaler N.; Brabant G.. Endocrine. 2013.

Emery and Rimoin's Principles and Practice of Medical Genetics, Thyroid disorders

Polak,M; Szinnai,G. . 2013.

Procalcitonin guidance to reduce antibiotic treatment of lower respiratory tract infection in children and adolescents (ProPAED): a randomized controlled trial.

Baer G; Baumann P; Buettcher M; Heininger U; Berthet G; Schäfer J; Bucher HC; Trachsel D; Schneider J; Gambon M; Reppucci D; Bonhoeffer JM; Stähelin-Massik J; Schuetz P; Mueller B; Szinnai G; Schaad UB; Bonhoeffer J. PLoS ONE. 2013.

Thyroid disorders

Polak M.; Szinnai G.. . 2013.

Activation of the transcription factor carbohydrate-responsive element-binding protein by glucose leads to increased pancreatic beta cell differentiation in rats.

Soggia A; Flosseau K; Ravassard P; Szinnai G; Scharfmann R; Guillemain G. Diabetologia. 2012.

Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.

Teissier R; Guillot L; Carré A; Morandini M; Stuckens C; Ythier H; Munnich A; Szinnai G; de Blic J; Clement A; Leger J; Castanet M; Epaud R; Polak M. Hormone research in paediatrics. 2012.

Paediatric thyroidology

Szinnai G.. . 2012.

Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.

Filges I; Bischof-Renner A; Röthlisberger B; Potthoff C; Glanzmann R; Günthard J; Schneider J; Huber AR; Zumsteg U; Miny P; Szinnai G. Pediatrics. 2012.

Plasma midregional proadrenomedullin in newborn infants: impact of prematurity and perinatal infection.

Admaty D; Benzing J; Burkhardt T; Lapaire O; Hegi L; Szinnai G; Morgenthaler NG; Bucher HU; Bührer C; Wellmann S. Pediatric Research. 2012.

Plasma pro-endothelin-1 and respiratory distress in newborn infants.

Benzing J; Stabile O; Szinnai G; Morgenthaler NG; Schulzke SM; Bührer C; Wellmann S. Journal of Pediatrics. 2012.


Szinnai,Gabor; Castanet,Mireille; Carré,Aurore; Polak,Michel. . 2012.

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.

Filges I; Kunz C; Miny P; Boesch N; Szinnai G; Wenzel F; Tschudin S; Zumsteg U; Heinimann K. Fertility and Sterility. 2011.

Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford progeria syndrome (HGPS).

Plasilova M; Chattopadhyay C; Ghosh A; Wenzel F; Demougin P; Noppen C; Schaub N; Szinnai G; Terracciano L; Heinimann K. PLoS ONE. 2011.

Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development.

Carre A; Rachdi L; Tron E; Richard B; Castanet M; Schlumberger M; Bidart JM; Szinnai G; Polak M. PLoS ONE. 2011.

Plasma copeptin in preterm infants: a highly sensitive marker of fetal and neonatal stress.

Benzing J; Wellmann S; Achini F; Letzner J; Burkhardt T; Beinder E; Morgenthaler NG; Haagen U; Bucher HU; Bührer C; Lapaire O; Szinnai G. Journal of Clinical Endocrinology and Metabolism. 2011.


Polak,Michel; Castanet,Mireille; Carré,AAurore; Szinnai,Gabor. . 2011.

High copeptin concentrations in umbilical cord blood after vaginal delivery and birth acidosis.

Wellmann S; Benzing J; Cippà G; Admaty D; Creutzfeldt R; Mieth RA; Beinder E; Lapaire O; Morgenthaler NG; Haagen U; Szinnai G; Bührer C; Bucher HU. Journal of Clinical Endocrinology and Metabolism. 2010.

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

Guillot L; Carré A; Szinnai G; Castanet M; Tron E; Jaubert F; Broutin I; Counil F; Feldmann D; Clement A; Polak M; Epaud R. Human Mutation. 2010.


Polak,Michel; Szinnai,Gabor; Carré,Aurore; Castanet,Mireille. . 2010.

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

Carré A; Szinnai G; Castanet M; Sura-Trueba S; Tron E; Broutin-L'Hermite I; Barat P; Goizet C; Lacombe D; Moutard ML; Raybaud C; Raynaud-Ravni C; Romana S; Ythier H; Léger J; Polak M. Human Molecular Genetics. 2009.

Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.

Alimohammadi M; Björklund P; Hallgren A; Pöntynen N; Szinnai G; Shikama N; Keller MP; Ekwall O; Kinkel SA; Husebye ES; Gustafsson J; Rorsman F; Peltonen L; Betterle C; Perheentupa J; Akerström G; Westin G; Scott HS; Holländer GA; Kämpe O. New England Journal of Medicine. 2008.

Changes in plasma copeptin, the c-terminal portion of arginine vasopressin during water deprivation and excess in healthy subjects.

Szinnai G; Morgenthaler NG; Berneis K; Struck J; Müller B; Keller U; Christ-Crain M. Journal of Clinical Endocrinology and Metabolism. 2007.

Dehydration does not influence cardiovascular reactivity to behavioural stress in young healthy humans.

Schwabe L; Szinnai G; Keller U; Schachinger H. Clinical Physiology and Functional Imaging. 2007.

Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric disease.

Szinnai G; Sarnacki S; Polak M. Endocr Dev. 2007.

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

Carré A; Castanet M; Sura-Trueba S; Szinnai G; Van Vliet G; Trochet D; Amiel J; Léger J; Czernichow P; Scotet V; Polak M. Human Genetics. 2007.

Precursor B lymphoblastic leukemia 32 months after local therapy for a primary extramedullary myeloid cell tumor.

Szinnai G; Cogliatti SB; Avoledo P; Dirnhofer S; Schmid U; Kühne T. Pediatric Blood and Cancer. 2007.

Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus.

Szinnai G; Lacroix L; Carré A; Guimiot F; Talbot M; Martinovic J; Delezoide AL; Vekemans M; Michiels S; Caillou B; Schlumberger M; Bidart JM; Polak M. Journal of Clinical Endocrinology and Metabolism. 2007.

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.

Szinnai G; Kosugi S; Derrien C; Lucidarme N; David V; Czernichow P; Polak M. Journal of Clinical Endocrinology and Metabolism. 2006.

Effect of water deprivation on cognitive-motor performance in healthy men and women.

Szinnai G; Schachinger H; Arnaud MJ; Linder L; Keller U. American journal of physiology. Regulatory, integrative and comparative physiology. 2005.

Molecular mechanisms of thyroid dysgenesis.

Polak M; Sura-Trueba S; Chauty A; Szinnai G; Carré A; Castanet M. Hormone research. 2004.

Effects of changes in hydration on protein, glucose and lipid metabolism in man: impact on health.

Keller U; Szinnai G; Bilz S; Berneis K. European journal of clinical nutrition. 2003.

Herpes zoster and aseptic meningitis in a previously healthy child.

Szinnai G; Farron F; Bär G; Heininger U. European journal of pediatrics. 2003.

Review of multiple endocrine neoplasia type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis.

Szinnai G; Meier C; Komminoth P; Zumsteg UW. Pediatrics. 2003.

Multiple herpetic whitlow lesions in a 4-year-old girl: case report and review of the literature.

Szinnai G; Schaad UB; Heininger U. European journal of pediatrics. 2001.