Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

259 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
Ariceta G, Beck-Nielsen SS, Boot AM, Brandi ML, Briot K, de Lucas Collantes C, Emma F, Giannini S, Haffner D, Keen R, Levtchenko E, Mӓkitie O, Mughal MZ, Nilsson O, Schnabel D, Tripto-Shkolnik L, Liu J, Williams A, Wood S, Zillikens MC. Ariceta G, et al. Among authors: mkitie o. Orphanet J Rare Dis. 2023 Sep 27;18(1):304. doi: 10.1186/s13023-023-02882-4. Orphanet J Rare Dis. 2023. PMID: 37752558 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. 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.
FGF23 and its role in X-linked hypophosphatemia-related morbidity.
Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, de Lucas Collantes C, Schnabel D, Jandhyala R, Mäkitie O. Beck-Nielsen SS, et al. Orphanet J Rare Dis. 2019 Feb 26;14(1):58. doi: 10.1186/s13023-019-1014-8. Orphanet J Rare Dis. 2019. PMID: 30808384 Free PMC article. Review.
Early-Onset Osteoporosis.
Mäkitie O, Zillikens MC. Mäkitie O, et al. 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.
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. 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: mkitie o. 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.
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.
Bergen DJM, Maurizi A, Formosa MM, McDonald GLK, El-Gazzar A, Hassan N, Brandi ML, Riancho JA, Rivadeneira F, Ntzani E, Duncan EL, Gregson CL, Kiel DP, Zillikens MC, Sangiorgi L, Högler W, Duran I, Mäkitie O, Van Hul W, Hendrickx G. Bergen DJM, et al. J Bone Miner Res. 2023 Feb;38(2):229-247. doi: 10.1002/jbmr.4715. Epub 2022 Oct 21. J Bone Miner Res. 2023. PMID: 36161343 Free PMC article. Review.
259 results