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A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Mäkitie O, Jüppner H. Grigelioniene G, et al. Among authors: molinaro a. J Bone Miner Res. 2017 Apr;32(4):776-783. doi: 10.1002/jbmr.3083. Epub 2017 Feb 24. J Bone Miner Res. 2017. PMID: 28084650 Free PMC article.
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).
Takatani R, Minagawa M, Molinaro A, Reyes M, Kinoshita K, Takatani T, Kazukawa I, Nagatsuma M, Kashimada K, Sato K, Matsushita K, Nomura F, Shimojo N, Jüppner H. Takatani R, et al. Among authors: molinaro a. Bone. 2015 Oct;79:15-20. doi: 10.1016/j.bone.2015.05.011. Epub 2015 May 19. Bone. 2015. PMID: 25997889 Free PMC article.
Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
Takatani R, Molinaro A, Grigelioniene G, Tafaj O, Watanabe T, Reyes M, Sharma A, Singhal V, Raymond FL, Linglart A, Jüppner H. Takatani R, et al. Among authors: molinaro a. J Bone Miner Res. 2016 Apr;31(4):796-805. doi: 10.1002/jbmr.2731. Epub 2015 Nov 14. J Bone Miner Res. 2016. PMID: 26479409 Free PMC article. Clinical Trial.
BRAF mutation analysis in thyroid nodules with indeterminate cytology: our experience on surgical management of patients with thyroid nodules from an area of borderline iodine deficiency.
Agretti P, Niccolai F, Rago T, De Marco G, Molinaro A, Scutari M, Di Cosmo C, Di Coscio G, Vitale M, Maccheroni M, Vitti P, Tonacchera M. Agretti P, et al. Among authors: molinaro a. J Endocrinol Invest. 2014 Oct;37(10):1009-14. doi: 10.1007/s40618-014-0166-6. Epub 2014 Sep 7. J Endocrinol Invest. 2014. PMID: 25194426
Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.
De Marco G, Agretti P, Montanelli L, Di Cosmo C, Bagattini B, De Servi M, Ferrarini E, Dimida A, Freitas Ferreira AC, Molinaro A, Ceccarelli C, Brozzi F, Pinchera A, Vitti P, Tonacchera M. De Marco G, et al. Among authors: molinaro a. J Clin Endocrinol Metab. 2011 Aug;96(8):E1335-9. doi: 10.1210/jc.2010-2467. Epub 2011 May 11. J Clin Endocrinol Metab. 2011. PMID: 21565790
Genetic markers to discriminate benign and malignant thyroid nodules with undetermined cytology in an area of borderline iodine deficiency.
Tonacchera M, Agretti P, Rago T, De Marco G, Niccolai F, Molinaro A, Scutari M, Candelieri A, Conforti D, Musmanno R, Di Coscio G, Basolo F, Iacconi P, Miccoli P, Pinchera A, Vitti P. Tonacchera M, et al. Among authors: molinaro a. J Endocrinol Invest. 2012 Sep;35(8):754-9. doi: 10.3275/8012. Epub 2011 Oct 4. J Endocrinol Invest. 2012. PMID: 21979329
692 results