Prof. Dr. med. PhD Gabor Szinnai

Gaechter, Pascal, Ebrahimi, Fahim, Kutz, Alexander, & Szinnai, Gabor. (2025). Hospitalizations in people with down syndrome across age groups: a population-based cohort study in Switzerland [Journal-article]. eClinicalMedicine, 80. https://doi.org/10.1016/j.eclinm.2024.103062

Bachmann, Freya, Koch, Gilbert, Bauer, Robert J., Steffens, Britta, Szinnai, Gabor, Pfister, Marc, & Schropp, Johannes. (2024). Computing optimal drug dosing regarding efficacy and safety: the enhanced OptiDose method in NONMEM. Journal of Pharmacokinetics and Pharmacodynamics, 51(6), 919–934. https://doi.org/10.1007/s10928-024-09940-9

Schulte, Janine, Hotz, Gerhard, Szinnai, Gabor, Christ, Emanuel, Foderà, Gaspare, Krüsi, Karl, Nussberger, Peter, Kron, Sarah, & Schulz, Iris. (2024). Exploring the potential of genetic analysis in historical blood spots for patients with iodine-deficient goiter and thyroid carcinomas in Switzerland and Germany (1929–1989). BMC Medical Genomics, 17. https://doi.org/10.1186/s12920-024-01947-y

Awchi, Mo, Singh, Kapil Dev, Brenner, Sara Bachmann, Burckhardt, Marie-Anne, Hess, Melanie, Zeng, Jiafa, Datta, Alexandre N., Frey, Urs, Zumsteg, Urs, Szinnai, Gabor, & Sinues, Pablo. (2024). Metabolic trajectories of diabetic ketoacidosis onset described by breath analysis. Frontiers in Endocrinology, 15. https://doi.org/10.3389/fendo.2024.1360989

Stoupa, Athanasia, Carré, Aurore, Polak, Michel, & Szinnai, Gabor. (2024). Thyroid Disorders. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Ophthalmologic, Hearing, Craniofacial, Dermatologic, Connective Tissue, and Skeletal Disorders, Seventh Edition (pp. 495–527). Elsevier. https://doi.org/10.1016/b978-0-12-812531-1.00013-0

Bachmann, Freya, Koch, Gilbert, Bauer, Robert J., Steffens, Britta, Szinnai, Gabor, Pfister, Marc, & Schropp, Johannes. (2023). Computing optimal drug dosing with OptiDose: implementation in NONMEM. Journal of Pharmacokinetics and Pharmacodynamics, 50(3), 173–188. https://doi.org/10.1007/s10928-022-09840-w

Deichmann, Julia, Bachmann, Sara, Burckhardt, Marie-Anne, Pfister, Marc, Szinnai, Gabor, & Kaltenbach, Hans-Michael. (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. PLoS Computational Biology, 19(2). https://doi.org/10.1371/journal.pcbi.1010289

Otto, Marije E., Burckhardt, Marie-Anne, Szinnai, Gabor, Pfister, Marc, & Gotta, Verena. (2023). Semimechanistic modeling of copeptin and aldosterone kinetics and dynamics in response to rehydration treatment for diabetic ketoacidosis in children. CPT: Pharmacometrics and Systems Pharmacology, 12(2), 207–220. https://doi.org/10.1002/psp4.12891

Steffens, Britta, Koch, Gilbert, Gächter, Pascal, Claude, Fabien, Gotta, Verena, Bachmann, Freya, Schropp, Johannes, Janner, Marco, l’Allemand, Dagmar, Konrad, Daniel, Welzel, Tatjana, Szinnai, Gabor, & Pfister, Marc. (2023). Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves’ disease. Frontiers in Medicine, 10. https://doi.org/10.3389/fmed.2023.1099470

Nahum U, Refardt J, Chifu I, Fenske WK, Fassnacht M, Szinnai G, Christ-Crain M, & Pfister M. (2022). Machine learning-based algorithm as an innovative approach for the differentiation between diabetes insipidus and primary polydipsia in clinical practice. European Journal of Endocrinology, 187(6), 777–786. https://doi.org/10.1530/eje-22-0368

Claude F, Ubertini G, & Szinnai G. (2022). Endocrine Disorders in Children with Brain Tumors: At Diagnosis, after Surgery, Radiotherapy and Chemotherapy. Children, 9(11). https://doi.org/10.3390/children9111617

Hauser, Stephanie Isabelle, Gregoriano, Claudia, Koehler, Henrik, Ebrahimi, Fahim, Szinnai, Gabor, Schuetz, Philipp, Mueller, Beat, & Kutz, Alexander. (2022). Trends and outcomes of children, adolescents, and adults hospitalized with inherited metabolic disorders: A population-based cohort study. JIMD Reports, 63(6), 581–592. https://doi.org/10.1002/jmd2.12320

Ebrahimi, Fahim, Kutz, Alexander, Christ, Emanuel Remigius, & Szinnai, Gabor. (2022). Lifetime risk and health-care burden of diabetic ketoacidosis: A population-based study. Frontiers in Endocrinology, 13. https://doi.org/10.3389/fendo.2022.940990

Glocker V, Bachmann S, Hess M, Szinnai G, & Burckhardt MA. (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. Frontiers in Endocrinology, 13, 958671. https://doi.org/10.3389/fendo.2022.958671

Atila C, Gaisl O, Vogt DR, Werlen L, Szinnai G, & Christ-Crain M. (2022). Glucagon-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a double-blind, randomized, placebo-controlled study. European Journal of Endocrinology, 187(1), 65–74. https://doi.org/10.1530/eje-22-0033

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. (2022). Caregiver burden, and parents’ perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Molecular Genetics and Metabolism Reports, 31, 100876. https://doi.org/10.1016/j.ymgmr.2022.100876

Marg W., Rami-Merhar B., Casteels K., Szinnai G., Kapellen T., Neu A., Paape D., & Holl R.W. (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. Monatsschrift Fur Kinderheilkunde, 170(5), 412–421. https://doi.org/10.1007/s00112-019-00836-4

Baumann, Philipp, Fuchs, Aline, Gotta, Verena, Ritz, Nicole, Baer, Gurli, Bonhoeffer, Jessica M., Buettcher, Michael, Heininger, Ulrich, Szinnai, Gabor, & Bonhoeffer, Jan. (2022). The kinetic profiles of copeptin and mid regional proadrenomedullin (MR-proADM) in pediatric lower respiratory tract infections. PLoS ONE, 17(3 March). https://doi.org/10.1371/journal.pone.0264305

Bachmann, Freya, Koch, Gilbert, Pfister, Marc, Szinnai, Gabor, & Schropp, Johannes. (2022). A SENSITIVITY ANALYSIS OF THE OPTIMAL DRUG DOSING ALGORITHM OPTIDOSE. Pure and Applied Functional Analysis, 7(4), 1127–1140.

Koch, Gilbert, Steffens, Britta, Leroux, Stephanie, Gotta, Verena, Schropp, Johannes, Gächter, Pascal, Bachmann, Freya, Welzel, Tatjana, Janner, Marco, L’Allemand, Dagmar, Konrad, Daniel, Szinnai, Gabor, & Pfister, Marc. (2021). Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study. Journal of Pharmacokinetics and Pharmacodynamics, 48(5), 711–723. https://doi.org/10.1007/s10928-021-09765-w

Deichmann J, Bachmann S, Burckhardt MA, Szinnai G, & Kaltenbach HM. (2021). Simulation-Based Evaluation of Treatment Adjustment to Exercise in Type 1 Diabetes. Frontiers in Endocrinology, 12, 723812. https://doi.org/10.3389/fendo.2021.723812

Bachmann F, Koch G, Pfister M, Szinnai G, & Schropp J. (2021). OptiDose: Computing the Individualized Optimal Drug Dosing Regimen Using Optimal Control. Journal of Optimization Theory and Applications, 189(1), 46–65. https://doi.org/10.1007/s10957-021-01819-w

Lenherr N., Christodoulou J., Duley J., Dobritzsch D, Fairbanks L., Datta AN, Filges I., Gürtler N, Roelofsen J., van Kuilenburg A.B.P., Kemper C., West EE, Szinnai G, & Huemer M. (2021). Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency) [Elsevier Inc.]. Molecular Genetics and Metabolism Reports, 26, 100709. https://doi.org/10.1016/j.ymgmr.2021.100709

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, et al. (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. Thyroid, 31(3), 387–419. https://doi.org/10.1089/thy.2020.0333

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. (2021). High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis. Frontiers in Endocrinology, 11, 545339. https://doi.org/10.3389/fendo.2020.545339

Bachmann, Sara, Auderset, Anne, Burckhardt, Marie-Anne, Szinnai, Gabor, Hess, Melanie, Zumsteg, Urs, Denhaerynck, Kris, & Donner, Birgit. (2021). Autonomic cardiac regulation during spontaneous nocturnal hypoglycemia in children with type 1 diabetes. Pediatric Diabetes, 22(7), 1023–1030. https://doi.org/10.1111/pedi.13262

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. (2021). Pregnancy and pregnancy outcomes after hematopoietic stem cell transplantation in childhood: A cross-sectional survey of the EBMT Pediatric Diseases Working Party. Human Reproduction, 36(11), 2871–2882. https://doi.org/10.1093/humrep/deab199

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. (2020). Copeptin Kinetics and Its Relationship to Osmolality during Rehydration for Diabetic Ketoacidosis in Children. Journal of Clinical Endocrinology and Metabolism, 105(11). https://doi.org/10.1210/clinem/dgaa568

Carré A, Gawade S, Dertschnig S, Hafen K, Polak M, & Szinnai G. (2020). Ex vivo model for elucidating the functional and structural differentiation of the embryonic mouse thyroid. Molecular and Cellular Endocrinology, 510, 110834. https://doi.org/10.1016/j.mce.2020.110834

Sasivari Z, Szinnai G, Seebauer B, Konrad D, & Lang-Muritano M. (2019). Double variants in TSHR and DUOX2 in a patient with hypothyroidism: Case report. In Journal of Pediatric Endocrinology and Metabolism (No. 11; Journal of Pediatric Endocrinology and Metabolism, Vol. 32, pp. 1299–1303). De Gruyter Open Ltd. https://doi.org/10.1515/jpem-2019-0051

Szinnai, G. (2019). Thyroid [Journal-article]. Yearbook of Paediatric Endocrinology. https://doi.org/10.1530/ey.16.3

Bachmann, Sara, Auderset, Anne, Zumsteg, Urs, Szinnai, Gabor, & Donner, Birgit. (2019). What hypoglycemia does to the heart: Impact of nocturnal hypoglycemia on cardiac repolarization in diabetic children. 91, 141. KARGER.

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. (2019). Copeptin kinetics and its relationship to osmolality during rehydration for diabetic ketoacidosis in children: an observational study. 91, 41–42. KARGER.

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. (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). Thyroid, 29(9), 1347. https://doi.org/10.1089/thy.2018.0461.correx

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. (2019). Arginine-stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a prospective diagnostic study. The Lancet, 394(10198), 587–595. https://doi.org/10.1016/s0140-6736(19)31255-3

Dufort G, Larrivée-Vanier S, Eugène D, De Deken X, Seebauer B, Heinimann K, Lévesque S, Gravel S, Szinnai, Gabor, Van Vliet G, & Deladoëy J. (2019). Wide Spectrum of DUOX2 Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism. Thyroid, 29(7), 1018–1022. https://doi.org/10.1089/thy.2018.0461

Jackson, C. B., Huemer, M., Bolognini, R., Martin, F., Donner, B., Szinnai, G., Nuoffer, J., Wartiovaara, A., & Schaller, A. (2019). Mutations in MRPS14 cause intellectual disability, neonatal lactic acidosis, cachexia and hypertrophic cardiomyopathy with distinct dysmorphic features. 27, 185–186. NATURE PUBLISHING GROUP.

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. (2019). Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism. eLife, 8. https://doi.org/10.7554/elife.47198

Koch, G., Gotta, V., Ollagnier, C., Konrad, D., Flück, C., L’Allemand, D., Steigert, M., Rohner, A., Bachmann, F., Schropp, J., Szinnai, G., & Pfister, M. (2019). O29 Pharmacometric modelling of free thyroxine dynamics after initiation of antithyroid drug treatment in children with Graves’ disease: a tool for personalized drug dosing in children [Journal-article]. Archives of Disease in Childhood, 104(6), e13. https://doi.org/10.1136/archdischild-2019-esdppp.29

Jackson CB, Huemer M, Bolognini R, Martin F, Szinnai G, Donner BC, Richter U, Battersby BJ, Nuoffer JM, Suomalainen A, & Schaller A. (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human Molecular Genetics, 28(4), 639–649. https://doi.org/10.1093/hmg/ddy374

Stoupa, A, & Szinnai, G. (2018). Yearbook in Paediatric Endocrinology, Chapter Thyroid.

Szinnai G. (2018). Jod - das Spurenelement als Schlüssel für normale Entwicklung und Wachstum [Review]. Paediatrica, 29(4), 19–21.

Bossong O, Rudin C, Szinnai G, Erb TO, & Moll J. (2018). Severe Disruption of Water and Electrolyte Balance After Appendectomy: A Case Report. A&A practice, 11(11), 299–303. https://doi.org/10.1213/xaa.0000000000000812

Fuchs A., Gotta V, Decker ML, Szinnai G, Baumann P, Bonhoeffer J., Ritz N, Ritz N, Baer G., Berthet G., Bonhoeffer J.M., Buettcher M., Gambon M., Heininger U., Mueller B., Schaad U.B., Schuetz P., & Trachsel D. (2018). Cytokine kinetic profiles in children with acute lower respiratory tract infection: a post hoc descriptive analysis from a randomized control trial. Clinical Microbiology and Infection, 24(12), 1341. https://doi.org/10.1016/j.cmi.2018.03.016

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, et al. (2018). TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology. EMBO Molecular Medicine, 10(12). https://doi.org/10.15252/emmm.201809569

Diesch, T., Szinnai, G., Rovo, A., Gumy-Pause, F., Dalissier, A., Balduzzi, A., & Bader, P. (2018). Pregnancy Rates and Pregnancy Outcomes after Hematopoietic Stem Cell Transplantation in Childhood: a Cross-Sectional Survey of the EBMT Pediatric WP [Journal-article]. Blood, 132(Supplement 1), 3418. https://doi.org/10.1182/blood-2018-99-110437

Tacke, Uta, Guzman, Raphael, Prufer, Friederike, Papachristofilou, Alexandros, Szinnai, Gabor, Wondrusch, Christine, Gutzwiller, Janine, Heinzelmann, Marianne, Moschlin, Katja, Diesch, Tamara, & Scheinemann, Katrin. (2018). THE PEDIATRIC BRAIN AND SPINE TUMOR CENTER AT THE UNIVERSITY CHILDREN’S HOSPITAL IN BASEL, SWITZERLAND. 20, 162–163. OXFORD UNIV PRESS INC.

Cassatella D, Howard S.R., Acierno JS, Xu C, Papadakis GE, Santoni F.A., Dwyer AA, Santini S, Sykiotis GP, Chambion C., Meylan J, Marino L, Favre L, Li J, Liu X, Zhang J., Bouloux PM, De Geyter C., Paepe A, et al. (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European Journal of Endocrinology, 178(4), 377–388. https://doi.org/10.1530/EJE-17-0568

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, et al. (2018). Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-Aggregation. 90, 40. KARGER.

Dufort, Gabrielle, Larrivee-Vanier, Stephanie, Eugene, Dardye, De Deken, Xavier, Heinimann, Karl, Szinnai, Gabor, Van Viet, Guy, & Deladoey, Johnny. (2018). DUOX2 Deficiency in Quebec: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism. 90, 92. KARGER.

Polak, M, Refetoff, S, Szinnai, G, & van Vliet, G. (2017). Pediatric Endocrinology and Inborn Errors of Metabolism; Disorders of the Thyroid Gland. In Sarafoglou K, Hoffmann GF, Roth KS (Ed.), Pediatric Endocrinology and Inborn Errors of Metabolism (2nd ed., pp. 481–512). McGrawHill Eductaion.

Stoupa, A, Gawade, S, & Szinnai, G. (2017). Yearbook in Paediatric Endocrinology 2017, Chapter: Thyroid. In K. Ong/Z.Hochberg (Ed.), Yearbook in Paediatric Endocrinology 2017 (pp. 34–49). haymarket.

Gotta V, Baumann P, Ritz N, Fuchs A, Baer G, Bonhoeffer JM, Heininger U, Szinnai G, Bonhoeffer J, & ProPAED study group. (2017). Drivers of antibiotic prescribing in children and adolescents with febrile lower respiratory tract infections. PLoS ONE, 12(9), e0185197. https://doi.org/10.1371/journal.pone.0185197

Lenherr, N, Pfeifle, VA, Holland-Cunz, S, Sluka, SHM, Thöny, B, Szinnai, G, Huemer, M, Rohrbach, M, & Fingerhut, R. (2017). Phenylketonuria and Hirschsprung disease-a report of an unusual neonatal presentation. International Journal of Neonatal Screening, 3(3). https://doi.org/10.3390/ijns3030024

Baumann P, Baer G, Bonhoeffer J, Fuchs A, Gotta V, Heininger U, Ritz N, Szinnai G, & Bonhoeffer J. (2017). Procalcitonin for diagnostics and treatment decisions in pediatric lower respiratory tract infections. Frontiers in Pediatrics, 5, 183. https://doi.org/10.3389/fped.2017.00183

Stoupa, Athanasia, Gueriouz, Manelle, Karyiawasam, Dulanjalee, Hanein, Sylvain, Bole-Feysot, Christine, Deladoey, Johnny, Szinnai, Gabor, Polak, Michel, & Carre, Aurore. (2017). THE PARIS-IMAGINE “HYPOTHYSEQ NGS PANEL” IS NOW FUNCTIONAL AND BRINGS VALUABLE INFORMATION ON THE GENETICS IN A LARGE COHORT OF CHILDREN WITH CONGENITAL HYPOTHYROIDISM. 88, 41. KARGER.

Gawade,S, Stoupa,A, & Szinnai,G. (2016). Yearbook in Paediatric Endocrinology, ChapterThyroid. In K.Ong/Z.Hochberg (Ed.), Yearbook of Paediatric Endocrinology: Vol. - (pp. 34–48). Haymarket.

Gawade S, Mayer C, Hafen K, Barthlott T, Krenger W, & Szinnai G. (2016). Cell Growth Dynamics in Embryonic and Adult Mouse Thyroid Revealed by a Novel Approach to Detect Thyroid Gland Subpopulations. Thyroid, 26(4), 591–599. https://doi.org/10.1089/thy.2015.0523

Diesch, Tamara, von der Weid, Nicolas Xavier, Szinnai, Gabor, Schaedelin, Sabine, De Geyter, Christian, Rovó, Alicia, & Swiss Pediatric Oncology Group Spog. (2016). Fertility preservation in pediatric and adolescent cancer patients in Switzerland: A qualitative cross-sectional survey. Cancer Epidemiology, 44, 141–146. https://doi.org/10.1016/j.canep.2016.08.013

Szinnai,G, Stoupa,A, Kariyawasam,D, Gawade,S, Carre,A, & Polak,M. (2015). Yearbook of Paediatric Endocrinology, Chapter Thyroid. In K.Ong/Z.Hochberg (Ed.), Yearbook of Paediatric Endocrinology 2015: Vol. - (pp. 27–39).

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. (2015). 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. Journal of Pediatric Endocrinology and Metabolism, 28(7-8), 777–784. https://doi.org/10.1515/jpem-2014-0194

Polak, Michel, & Szinnai, Gabor. (2015). Paediatric thyroid disorders: New insights (Patent No. 2). Hormone Research in Paediatrics, 83(2), Article 2. https://doi.org/10.1159/000375280

Burckhardt MA, Schifferli A, Krieg AH, Baumhoer D, Szinnai G, & Rudin C. (2015). Tumor-associated FGF-23-induced hypophosphatemic rickets in children: a case report and review of the literature. Pediatric Nephrology, 30(1), 179–182. https://doi.org/10.1007/s00467-014-2979-0

Szinnai,G. (2014). Endocrine Development: Vol. -.

Szinnai,G, Stoupa,A, Carré,A, Castanet,M, & Polak,M. (2014). Thyroid: Vol. - (pp. 27–44).

Wellmann,Sven, Benzing,Jörg, Fleischlin,Silvia, Morgenthaler,Nils, Fouzas,Sotirios, Bührer,Christoph A, Szinnai,Gabor, Burkhardt,Tilo, & Lapaire,Olav. (2014). Cardiovascular biomarkers in preeclampsia at triage. Fetal Diagnosis and Therapy, 36(3), 202–207. https://doi.org/10.1159/000361016

Fenske WK, Christ-Crain M, Hörning A, Simet J, Szinnai G, Fassnacht M, Rutishauser J, Bichet DG, Störk S, & Allolio B. (2014). A copeptin-based classification of the osmoregulatory defects in the syndrome of inappropriate antidiuresis. Journal of the American Society of Nephrology, 25(10), 2376–2383. https://doi.org/10.1681/asn.2013080895

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. (2014). Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations. European Journal of Endocrinology, 171(4), 499–507. https://doi.org/10.1530/eje-13-1006

Burckhardt MA, Wellmann, Maike, Fouzas, Sotirios, Lapaire, Olav, Burkhardt, Tilo, Benzing, Jörg, Bührer C, Szinnai G, & Wellmann, Sven. (2014). Sexual disparity of copeptin in healthy newborn infants. Journal of Clinical Endocrinology and Metabolism, 99(9), E1750–E1753. https://doi.org/10.1210/jc.2014-2244

Onigata K, & Szinnai G. (2014). Resistance to thyroid hormone. Endocrine Development, 26, 118–129. https://doi.org/10.1159/000363159

Polak, M., & Szinnai, G. (2014). Thyroid Disorders. Elsevier. https://doi.org/10.1016/b978-0-12-801238-3.05556-2

Szinnai G. (2014). Genetics of normal and abnormal thyroid development in humans. Best Practice and Research: Clinical Endocrinology and Metabolism, 28(2), 133–150. https://doi.org/10.1016/j.beem.2013.08.005

Szinnai G. (2014). Clinical genetics of congenital hypothyroidism. Endocrine Development, 26, 60–78. https://doi.org/10.1159/000363156

Szinnai G. (2014). Preface. Endocrine Development, 26, VII.

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. (2014). Clinical case seminar in pediatric thyroid disease. Endocrine Development, 26, 214–244. https://doi.org/10.1159/000363166

Polak,M, & Szinnai,G. (2013). Emery and Rimoin’s Principles and Practice of Medical Genetics, Thyroid disorders. In Rimoin DL, Connor JM, Pyeritz RE, Korf BR (Ed.), Emery and Rimoin’s Principles and Practice of Medical Genetics (Vol. 84, pp. 1–24). Churchill Livingstone Elsevier.

Polak M., & Szinnai G. (2013). Thyroid disorders. In Emery and Rimoin’s Principles and Practice of Medical Genetics (pp. 1–24). Elsevier Ltd. https://doi.org/10.1016/b978-0-12-383834-6.00088-4

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