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Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Among authors: mohnike k. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.
The first European consensus on principles of management for achondroplasia.
Cormier-Daire V, AlSayed M, Ben-Omran T, de Sousa SB, Boero S, Fredwall SO, Guillen-Navarro E, Irving M, Lampe C, Maghnie M, Mortier G, Peijin Z, Mohnike K. Cormier-Daire V, et al. Among authors: mohnike k. Orphanet J Rare Dis. 2021 Jul 31;16(1):333. doi: 10.1186/s13023-021-01971-6. Orphanet J Rare Dis. 2021. PMID: 34332609 Free PMC article.
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. Savarirayan R, et al. Among authors: mohnike k. Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26. Nat Rev Endocrinol. 2022. PMID: 34837063 Free article. Review.
International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia.
Savarirayan R, Hoover-Fong J, Ozono K, Backeljauw P, Cormier-Daire V, DeAndrade K, Ireland P, Irving M, Llerena Junior J, Maghnie M, Menzel M, Merchant N, Mohnike K, Iruretagoyena SN, Okada K, Fredwall SO. Savarirayan R, et al. Among authors: mohnike k. Nat Rev Endocrinol. 2025 Jan 6. doi: 10.1038/s41574-024-01074-9. Online ahead of print. Nat Rev Endocrinol. 2025. PMID: 39757323 Review.
[Life Situation of Young women with Turner Syndrome: Results of a Questionnaire-based Study in Germany].
Dörr HG, Bettendorf M, Binder G, Brämswig J, Hauffa BP, Holterhus PM, Mohnike K, Schmidt H, Stalla GK, Wabitsch M, Wölfle J; und die Turner-Syndrom-Vereinigung Deutschland e. V.; Geschäftsstelle: Am Bornstück 1, Dornburg. Dörr HG, et al. Among authors: mohnike k. Dtsch Med Wochenschr. 2019 Jul;144(14):e87-e93. doi: 10.1055/a-0841-9918. Epub 2019 Mar 14. Dtsch Med Wochenschr. 2019. PMID: 30873573 Free article. German.
[Medical care of young women with Turner syndrome in Germany].
Dörr HG, Bettendorf M, Binder G, Brämswig J, Hauffa BP, Holterhus PM, Mohnike K, Schmidt H, Stalla GK, Wabitsch M, Wölfle J; und die Turner-Syndrom-Vereinigung Deutschland e. V.. Dörr HG, et al. Among authors: mohnike k. Dtsch Med Wochenschr. 2020 Feb;145(4):e18-e23. doi: 10.1055/a-0923-4191. Epub 2019 Jul 24. Dtsch Med Wochenschr. 2020. PMID: 31340395 Free article. German.
204 results