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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. Among authors: zillikens mc. 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: zillikens mc. 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.
Early-Onset Osteoporosis.
Mäkitie O, Zillikens MC. Mäkitie O, et al. Among authors: zillikens mc. Calcif Tissue Int. 2022 May;110(5):546-561. doi: 10.1007/s00223-021-00885-6. Epub 2021 Jul 8. Calcif Tissue Int. 2022. PMID: 34236445 Free PMC article. Review.
Hyponatremia and bone: an emerging relationship.
Hoorn EJ, Liamis G, Zietse R, Zillikens MC. Hoorn EJ, et al. Among authors: zillikens mc. Nat Rev Endocrinol. 2011 Oct 25;8(1):33-9. doi: 10.1038/nrendo.2011.173. Nat Rev Endocrinol. 2011. PMID: 22024973 Review.
[Paget's disease of bone: diagnosis and treatment].
Winter EM, Hamdy NA, de Jongh RT, Eekhoff EM, Zillikens MC, Appelman-Dijkstra NM. Winter EM, et al. Among authors: zillikens mc. Ned Tijdschr Geneeskd. 2016;160:D254. Ned Tijdschr Geneeskd. 2016. PMID: 27650015 Review. Dutch.
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL, Fine RS, Guo X, Schurmann C, Lempradl A, Marouli E, Mahajan A, Winkler TW, Locke AE, Medina-Gomez C, Esko T, Vedantam S, Giri A, Lo KS, Alfred T, Mudgal P, Ng MCY, Heard-Costa NL, Feitosa MF, Manning AK, Willems SM, Sivapalaratnam S, Abecasis G, Alam DS, Allison M, Amouyel P, Arzumanyan Z, Balkau B, Bastarache L, Bergmann S, Bielak LF, Blüher M, Boehnke M, Boeing H, Boerwinkle E, Böger CA, Bork-Jensen J, Bottinger EP, Bowden DW, Brandslund I, Broer L, Burt AA, Butterworth AS, Caulfield MJ, Cesana G, Chambers JC, Chasman DI, Chen YI, Chowdhury R, Christensen C, Chu AY, Collins FS, Cook JP, Cox AJ, Crosslin DS, Danesh J, de Bakker PIW, Denus S, Mutsert R, Dedoussis G, Demerath EW, Dennis JG, Denny JC, Di Angelantonio E, Dörr M, Drenos F, Dubé MP, Dunning AM, Easton DF, Elliott P, Evangelou E, Farmaki AE, Feng S, Ferrannini E, Ferrieres J, Florez JC, Fornage M, Fox CS, Franks PW, Friedrich N, Gan W, Gandin I, Gasparini P, Giedraitis V, Girotto G, Gorski M, Grallert H, Grarup N, Grove ML, Gustafsson S, Haessler J, Hansen T, Hattersley AT, Hayward C, Heid IM, Holmen OL, Hovingh GK, Howson JMM, Hu Y, Hung Y… See abstract for full author list ➔ Justice AE, et al. Among authors: zillikens mc. Nat Genet. 2019 Mar;51(3):452-469. doi: 10.1038/s41588-018-0334-2. Epub 2019 Feb 18. Nat Genet. 2019. PMID: 30778226 Free PMC article.
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg D, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W, Mäkitie O. Formosa MM, et al. Among authors: zillikens mc. Front Endocrinol (Lausanne). 2021 Aug 13;12:709711. doi: 10.3389/fendo.2021.709711. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34539568 Free PMC article. Review.
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.
Brandi ML, Ariceta G, Beck-Nielsen SS, Boot AM, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Nilsson O, Schnabel D, Tripto-Shkolnik L, Zillikens MC, Liu J, Tudor A, Mughal MZ. Brandi ML, et al. Among authors: zillikens mc. Ther Adv Chronic Dis. 2022 Sep 5;13:20406223221117471. doi: 10.1177/20406223221117471. eCollection 2022. Ther Adv Chronic Dis. 2022. PMID: 36082134 Free PMC article.
299 results