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Real-world evidence in achondroplasia: considerations for a standardized data set.
Alanay Y, Mohnike K, Nilsson O, Alves I, AlSayed M, Appelman-Dijkstra NM, Baujat G, Ben-Omran T, Breyer S, Cormier-Daire V, Gregersen PA, Guillén-Navarro E, Högler W, Maghnie M, Mukherjee S, Cohen S, Pimenta J, Selicorni A, Semler JO, Sigaudy S, Popkov D, Sabir I, Noval S, Sessa M, Irving M. Alanay Y, et al. Among authors: maghnie m. Orphanet J Rare Dis. 2023 Jun 26;18(1):166. doi: 10.1186/s13023-023-02755-w. Orphanet J Rare Dis. 2023. PMID: 37365619 Free PMC article.
Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.
Maghnie M, Semler O, Guillen-Navarro E, Selicorni A, Heath KE, Haeusler G, Hagenäs L, Merker A, Leiva-Gea A, González VL, Raimann A, Rehberg M, Santos-Simarro F, Ertl DA, Gregersen PA, Onesimo R, Landfeldt E, Jarrett J, Quinn J, Rowell R, Pimenta J, Cohen S, Butt T, Shediac R, Mukherjee S, Mohnike K. Maghnie M, et al. Orphanet J Rare Dis. 2023 Mar 15;18(1):56. doi: 10.1186/s13023-023-02652-2. Orphanet J Rare Dis. 2023. PMID: 36922864 Free PMC article.
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
Irving M, AlSayed M, Arundel P, Baujat G, Ben-Omran T, Boero S, Cormier-Daire V, Fredwall S, Guillen-Navarro E, Hoyer-Kuhn H, Kunkel P, Lampe C, Maghnie M, Mohnike K, Mortier G, Sousa SB. Irving M, et al. Among authors: maghnie m. Orphanet J Rare Dis. 2023 Jul 27;18(1):219. doi: 10.1186/s13023-023-02795-2. Orphanet J Rare Dis. 2023. PMID: 37501185 Free PMC article.
How pain affect real life of children and adults with achondroplasia: A systematic review.
Onesimo R, Sforza E, Bedeschi MF, Leoni C, Giorgio V, Rigante D, De Rose C, Kuczynska EM, Romeo DM, Palmacci O, Massimi L, Porro M, Gonfiantini MV, Selicorni A, Allegri A, Maghnie M, Zampino G. Onesimo R, et al. Among authors: maghnie m. Eur J Med Genet. 2023 Nov;66(11):104850. doi: 10.1016/j.ejmg.2023.104850. Epub 2023 Sep 26. Eur J Med Genet. 2023. PMID: 37758167 Free article.
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M. Patti G, et al. Among authors: maghnie m. Front Endocrinol (Lausanne). 2023 Jul 28;14:1213098. doi: 10.3389/fendo.2023.1213098. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37576960 Free PMC article.
Increased Frequency of Diabetic Ketoacidosis: The Link With COVID-19 Pandemic.
d'Annunzio G, Bassi M, De Rose EL, Lezzi M, Minuto N, Calevo MG, Gaiero A, Fichera G, Borea R, Maghnie M. d'Annunzio G, et al. Among authors: maghnie m. Front Clin Diabetes Healthc. 2022 Feb 24;3:846827. doi: 10.3389/fcdhc.2022.846827. eCollection 2022. Front Clin Diabetes Healthc. 2022. PMID: 36992744 Free PMC article.
Clinical characterization of pediatric supratentorial tumors and prediction of pituitary insufficiency in two tertiary centers in Saudi Arabia.
Babiker A, Idris A, Aldawsari M, Abu Abah M, Alaqeel B, Almotawa A, Masuadi E, AlShaikh A, Azzubi M, Al Dubayee M, Al Alwan I, Maghnie M. Babiker A, et al. Among authors: maghnie m. Int J Pediatr Adolesc Med. 2022 Dec;9(4):196-202. doi: 10.1016/j.ijpam.2022.11.001. Epub 2022 Dec 21. Int J Pediatr Adolesc Med. 2022. PMID: 36937326 Free PMC article.
Corrigendum: Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.
Patti G, Malerba F, Calevo MG, Schiavone M, Scaglione M, Casalini E, Russo S, Fava D, Bassi M, Napoli F, Allegri AEM, D'Annunzio G, Gastaldi R, Maghnie M, Di Iorgi N. Patti G, et al. Among authors: maghnie m. Front Endocrinol (Lausanne). 2023 Mar 15;14:1172736. doi: 10.3389/fendo.2023.1172736. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37008915 Free PMC article.
288 results