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Page 1
Lack of GNAS Remethylation During Oogenesis May Be a Cause of Sporadic Pseudohypoparathyroidism Type Ib.
Milioto A, Reyes M, Hanna P, Kiuchi Z, Turan S, Zeve D, Agarwal C, Grigelioniene G, Chen A, Mericq V, Frangos M, Ten S, Mantovani G, Salusky IB, Tebben P, Jüppner H. Milioto A, et al. Among authors: hanna p. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1610-e1619. doi: 10.1210/clinem/dgab830. J Clin Endocrinol Metab. 2022. PMID: 34791361 Free PMC article.
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: hanna p. 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.
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
Elli FM, Linglart A, Garin I, de Sanctis L, Bordogna P, Grybek V, Pereda A, Giachero F, Verrua E, Hanna P, Mantovani G, Perez de Nanclares G. Elli FM, et al. Among authors: hanna p. J Clin Endocrinol Metab. 2016 Oct;101(10):3657-3668. doi: 10.1210/jc.2015-4310. Epub 2016 Jul 18. J Clin Endocrinol Metab. 2016. PMID: 27428667 Free article.
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.
Hanna P, Grybek V, Perez de Nanclares G, Tran LC, de Sanctis L, Elli F, Errea J, Francou B, Kamenicky P, Linglart L, Pereda A, Rothenbuhler A, Tessaris D, Thiele S, Usardi A, Shoemaker AH, Kottler ML, Jüppner H, Mantovani G, Linglart A. Hanna P, et al. J Bone Miner Res. 2018 Aug;33(8):1480-1488. doi: 10.1002/jbmr.3450. Epub 2018 Jun 7. J Bone Miner Res. 2018. PMID: 29693731 Free PMC article.
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: hanna p. 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.
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: hanna p. 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.
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.
Pereda A, Elli FM, Thiele S, de Sanctis L, Rothenbuhler A, Hanna P, Francou B, Ertl DA, Perez de Nanclares G, Linglart A, Mantovani G. Pereda A, et al. Among authors: hanna p. Eur J Endocrinol. 2021 Feb;184(2):311-320. doi: 10.1530/EJE-20-0625. Eur J Endocrinol. 2021. PMID: 33270042 Free article.
458 results