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Page 1
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Semler O, et al. Among authors: bober mb. Adv Ther. 2024 Jan;41(1):198-214. doi: 10.1007/s12325-023-02705-9. Epub 2023 Oct 26. Adv Ther. 2024. PMID: 37882884 Free PMC article.
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?".
White KK, Savarirayan R, Goldberg MJ, MacKenzie W, Bompadre V, Bober MB, Cho TJ, Hoover-Fong J, Parnell SE, Raggio C, Spencer SA, Campbell JW, Rapoport DM, Kifle Y, Blackledge M. White KK, et al. Among authors: bober mb. Am J Med Genet A. 2016 Apr;170A(4):1101-3. doi: 10.1002/ajmg.a.37546. Epub 2016 Jan 11. Am J Med Genet A. 2016. PMID: 26754314 No abstract available.
Best practices in peri-operative management of patients with skeletal dysplasias.
White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover-Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ, Spencer SS, Savarirayan R, Theroux MC; Skeletal Dysplasia Management Consortium. White KK, et al. Among authors: bober mb. Am J Med Genet A. 2017 Oct;173(10):2584-2595. doi: 10.1002/ajmg.a.38357. Epub 2017 Aug 1. Am J Med Genet A. 2017. PMID: 28763154
Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.
Savarirayan R, Rossiter JP, Hoover-Fong JE, Irving M, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium. Savarirayan R, et al. Among authors: bober mb. Am J Obstet Gynecol. 2018 Dec;219(6):545-562. doi: 10.1016/j.ajog.2018.07.017. Epub 2018 Jul 23. Am J Obstet Gynecol. 2018. PMID: 30048634 Review.
Multicenter study of mortality in achondroplasia.
Hashmi SS, Gamble C, Hoover-Fong J, Alade AY, Pauli RM, Modaff P, Carney M, Brown C, Bober MB, Hecht JT. Hashmi SS, et al. Among authors: bober mb. Am J Med Genet A. 2018 Nov;176(11):2359-2364. doi: 10.1002/ajmg.a.40528. Epub 2018 Oct 1. Am J Med Genet A. 2018. PMID: 30276962
Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.
Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK; Skeletal Dysplasia Management Consortium. Savarirayan R, et al. Among authors: bober mb. Genet Med. 2019 Sep;21(9):2070-2080. doi: 10.1038/s41436-019-0446-9. Epub 2019 Jan 30. Genet Med. 2019. PMID: 30696995 Free article.
Best practice guidelines for management of spinal disorders in skeletal dysplasia.
White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, Savarirayan R; Skeletal Dysplasia Management Consortium. White KK, et al. Among authors: bober mb. Orphanet J Rare Dis. 2020 Jun 24;15(1):161. doi: 10.1186/s13023-020-01415-7. Orphanet J Rare Dis. 2020. PMID: 32580780 Free PMC article.
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Savarirayan R, Tofts L, Irving M, Wilcox W, Bacino CA, Hoover-Fong J, Ullot Font R, Harmatz P, Rutsch F, Bober MB, Polgreen LE, Ginebreda I, Mohnike K, Charrow J, Hoernschemeyer D, Ozono K, Alanay Y, Arundel P, Kagami S, Yasui N, White KK, Saal HM, Leiva-Gea A, Luna-González F, Mochizuki H, Basel D, Porco DM, Jayaram K, Fisheleva E, Huntsman-Labed A, Day J. Savarirayan R, et al. Among authors: bober mb. Lancet. 2020 Sep 5;396(10252):684-692. doi: 10.1016/S0140-6736(20)31541-5. Lancet. 2020. PMID: 32891212 Clinical Trial.
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.
Savarirayan R, Tunkel DE, Sterni LM, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V, White KK; on behalfof the Skeletal Dysplasia Management Consortium. Savarirayan R, et al. Among authors: bober mb. Orphanet J Rare Dis. 2021 Jan 14;16(1):31. doi: 10.1186/s13023-021-01678-8. Orphanet J Rare Dis. 2021. PMID: 33446226 Free PMC article.
124 results