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Page 1
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J. Savarirayan R, et al. Genet Med. 2022 Dec;24(12):2444-2452. doi: 10.1016/j.gim.2022.08.015. Epub 2022 Sep 16. Genet Med. 2022. PMID: 36107167 Free article.
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. 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.
Sleep disordered breathing in children with achondroplasia.
Zaffanello M, Cantalupo G, Piacentini G, Gasperi E, Nosetti L, Cavarzere P, Ramaroli DA, Mittal A, Antoniazzi F. Zaffanello M, et al. World J Pediatr. 2017 Feb;13(1):8-14. doi: 10.1007/s12519-016-0051-9. Epub 2016 Oct 15. World J Pediatr. 2017. PMID: 27830579 Review.
Thanatophoric dysplasia.
Kulkarni ML, Sureshkumar C, Venkataramana V, Koshy S, Bhagyavathi M, Reddy GS. Kulkarni ML, et al. Indian Pediatr. 1994 Nov;31(11):1405-10. Indian Pediatr. 1994. PMID: 7896342 Review. No abstract available.
Associated anomalies in cases with achondroplasia.
Stoll C, Alembik Y, Dott B, Roth MP. Stoll C, et al. Eur J Med Genet. 2022 Nov;65(11):104612. doi: 10.1016/j.ejmg.2022.104612. Epub 2022 Sep 20. Eur J Med Genet. 2022. PMID: 36150686
Medical complications in children with achondroplasia.
Armstrong JA, Pacey V, Tofts LJ. Armstrong JA, et al. Dev Med Child Neurol. 2022 Aug;64(8):989-997. doi: 10.1111/dmcn.15194. Epub 2022 Mar 2. Dev Med Child Neurol. 2022. PMID: 35238031 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.
In brief: Achondroplasia.
Stratbucker WB. Stratbucker WB. Pediatr Rev. 2009 Mar;30(3):114-5. doi: 10.1542/pir.30-3-114. Pediatr Rev. 2009. PMID: 19255125 No abstract available.
52 results