| The role of thyroglobulin in thyroid hormonogenesis CE Citterio, HM Targovnik, P Arvan Nature Reviews Endocrinology 15 (6), 323-338, 2019 | 178 | 2019 |
| GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer W Zhou, B Brumpton, O Kabil, J Gudmundsson, G Thorleifsson, ... Nature communications 11 (1), 3981, 2020 | 105 | 2020 |
| Iodide handling disorders (nis, tpo, tg, iyd) HM Targovnik, CE Citterio, CM Rivolta Best Practice & Research Clinical Endocrinology & Metabolism 31 (2), 195-212, 2017 | 93 | 2017 |
| Thyroglobulin gene mutations in congenital hypothyroidism HM Targovnik, CE Citterio, CM Rivolta Hormone research in paediatrics 75 (5), 311-321, 2011 | 83 | 2011 |
| New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism CE Citterio, GA Machiavelli, MB Miras, L Gruñeiro-Papendieck, K Lachlan, ... Molecular and cellular endocrinology 365 (2), 277-291, 2013 | 39 | 2013 |
| De novo triiodothyronine formation from thyrocytes activated by thyroid-stimulating hormone CE Citterio, B Veluswamy, SJ Morgan, VA Galton, JP Banga, S Atkins, ... Journal of Biological Chemistry 292 (37), 15434-15444, 2017 | 35 | 2017 |
| Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism S Siffo, E Adrover, CE Citterio, MB Miras, VA Balbi, A Chiesa, J Weill, ... Molecular and cellular endocrinology 473, 1-16, 2018 | 29 | 2018 |
| Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19 HM Targovnik, T Edouard, V Varela, M Tauber, CE Citterio, ... Molecular and cellular endocrinology 348 (1), 313-321, 2012 | 27 | 2012 |
| Relationship between the dimerization of thyroglobulin and its ability to form triiodothyronine CE Citterio, Y Morishita, N Dakka, B Veluswamy, P Arvan Journal of Biological Chemistry 293 (13), 4860-4869, 2018 | 25 | 2018 |
| Structure and genetic variants of thyroglobulin: Pathophysiological implications CE Citterio, CM Rivolta, HM Targovnik Molecular and cellular endocrinology 528, 111227, 2021 | 21 | 2021 |
| A new compound heterozygous for c. 886C> T/c. 2206C> T [p. R277X/p. Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism CE Citterio, R Coutant, S Rouleau, JM Miralles García, ... Wiley Blackwell Publishing, Inc, 2011 | 19 | 2011 |
| Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism CE Citterio, LC Rossetti, PF Souchon, C Morales, M Thouvard-Viprey, ... Molecular and cellular endocrinology 381 (1-2), 220-229, 2013 | 17 | 2013 |
| Novel compound heterozygous Thyroglobulin mutations c. 745+ 1G> A/c. 7036+ 2T> A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of … CE Citterio, CM Morales, N Bouhours-Nouet, GA Machiavelli, E Bueno, ... Molecular and Cellular Endocrinology 404, 102-112, 2015 | 13 | 2015 |
| Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death X Zhang, AP Kellogg, CE Citterio, H Zhang, D Larkin, Y Morishita, ... JCI insight 6 (11), 2021 | 11 | 2021 |
| Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression FS Belforte, AM Targovnik, RM González-Lebrero, CO Larroche, ... Molecular and Cellular Endocrinology 404, 9-15, 2015 | 11 | 2015 |
| Compound heterozygous DUOX2 gene mutations (c. 2335-1G> C/c. 3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by … FS Belforte, CE Citterio, G Testa, MC Olcese, G Sobrero, MB Miras, ... Molecular and cellular endocrinology 419, 172-184, 2016 | 9 | 2016 |
| Advances and perspectives in genetics of congenital thyroid disorders associated with thyroglobulin gene mutations HM Targovnik, CE Citterio, S Siffo, CM Rivolta | 8 | 2016 |
| p. L571P in the linker domain of rat thyroglobulin causes intracellular retention CE Citterio, S Siffo, CM Moya, MG Pio, MF Molina, KG Scheps, OA Rey, ... Molecular and cellular endocrinology 505, 110719, 2020 | 6 | 2020 |
| Advances and perspectives in genetics of congenital thyroid disorders HM Targovnik, CE Citterio, S Siff, CM Rivolta | 5 | 2016 |
| Targeted next-generation sequencing of congenital hypothyroidism-causative genes reveals unexpected thyroglobulin gene variants in patients with iodide transport defect CE Bernal Barquero, RC Geysels, V Jacques, GH Carro, M Martín, ... International Journal of Molecular Sciences 23 (16), 9251, 2022 | 3 | 2022 |
