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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Mantovani G, et al. Among authors: silve c. Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Nat Rev Endocrinol. 2018. PMID: 29959430 Free PMC article. Review.
Multiple hormonal resistances: Diagnosis, evaluation and therapy.
Linglart A, Silve C, Rothenbuhler A. Linglart A, et al. Among authors: silve c. Ann Endocrinol (Paris). 2015 May;76(2):98-100. doi: 10.1016/j.ando.2015.03.029. Epub 2015 Apr 23. Ann Endocrinol (Paris). 2015. PMID: 25913526 Review.
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L, Elli FM, Freson K, Garin I, Grybek V, Hanna P, Izzi B, Hiort O, Lecumberri B, Pereda A, Saraff V, Silve C, Turan S, Usardi A, Werner R, de Nanclares GP, Linglart A. Thiele S, et al. Among authors: silve c. Eur J Endocrinol. 2016 Dec;175(6):P1-P17. doi: 10.1530/EJE-16-0107. Epub 2016 Jul 11. Eur J Endocrinol. 2016. PMID: 27401862 Free article. Review.
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Mantovani G, et al. Among authors: silve c. Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5. Horm Res Paediatr. 2020. PMID: 32756064 Free PMC article. Review.
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
Garin I, Mantovani G, Aguirre U, Barlier A, Brix B, Elli FM, Freson K, Grybek V, Izzi B, Linglart A, Perez de Nanclares G, Silve C, Thiele S, Werner R; EuroPHP Consortium. Garin I, et al. Among authors: silve c. Eur J Hum Genet. 2015 Apr;23(4):438-44. doi: 10.1038/ejhg.2014.127. Epub 2014 Jul 9. Eur J Hum Genet. 2015. PMID: 25005735 Free PMC article.
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
Garin I, Elli FM, Linglart A, Silve C, de Sanctis L, Bordogna P, Pereda A, Clarke JT, Kannengiesser C, Coutant R, Tenebaum-Rakover Y, Admoni O, de Nanclares GP, Mantovani G. Garin I, et al. Among authors: silve c. J Clin Endocrinol Metab. 2015 Apr;100(4):E681-7. doi: 10.1210/jc.2014-3098. Epub 2015 Jan 16. J Clin Endocrinol Metab. 2015. PMID: 25594858 Free article.
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.
Saito H, Noda H, Gatault P, Bockenhauer D, Loke KY, Hiort O, Silve C, Sharwood E, Martin RM, Dillon MJ, Gillis D, Harris M, Rao SD, Pauli RM, Gardella TJ, Jüppner H. Saito H, et al. Among authors: silve c. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2660-2669. doi: 10.1210/jc.2018-00332. J Clin Endocrinol Metab. 2018. PMID: 29788189 Free PMC article.
113 results