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Page 1
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. 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.
Nonclassic features of pseudohypoparathyroidism type 1A.
Shoemaker AH, Jüppner H. Shoemaker AH, et al. Curr Opin Endocrinol Diabetes Obes. 2017 Feb;24(1):33-38. doi: 10.1097/MED.0000000000000306. Curr Opin Endocrinol Diabetes Obes. 2017. PMID: 27875418 Free PMC article. Review.
A multidisciplinary approach to the clinical management of Prader-Willi syndrome.
Duis J, van Wattum PJ, Scheimann A, Salehi P, Brokamp E, Fairbrother L, Childers A, Shelton AR, Bingham NC, Shoemaker AH, Miller JL. Duis J, et al. Mol Genet Genomic Med. 2019 Mar;7(3):e514. doi: 10.1002/mgg3.514. Epub 2019 Jan 29. Mol Genet Genomic Med. 2019. PMID: 30697974 Free PMC 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.
15 results