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Page 1
Dominant Missense Variants in SREBF2 are Associated with Complex Dermatological, Neurological, and Skeletal Abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Among authors: bober mb. Genet Med. 2024 Jun 3:101174. doi: 10.1016/j.gim.2024.101174. Online ahead of print. Genet Med. 2024. PMID: 38847193
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM; Care4Rare Canada Consortium; Bober MB, Boycott KM, Murshed M. Gourgas O, et al. Among authors: bober mb. Nat Commun. 2024 Apr 30;15(1):3655. doi: 10.1038/s41467-024-47898-x. Nat Commun. 2024. PMID: 38688929 Free PMC article. No abstract available.
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
Qi Y, Chan ML, Mould DR, Larimore K, Fisheleva E, Cherukuri A, Day J, Savarirayan R, Irving M, Bacino CA, Hoover-Fong J, Ozono K, Mohnike K, Wilcox WR, Bober MB, Henshaw J. Qi Y, et al. Among authors: bober mb. Clin Pharmacokinet. 2024 May;63(5):707-719. doi: 10.1007/s40262-024-01371-6. Epub 2024 Apr 23. Clin Pharmacokinet. 2024. PMID: 38649657 Free PMC article.
Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia.
O'Connell DA, Carroll RS, Duker AL, Schelhaas AJ, Postell MM, Fawcett PT, Bober MB. O'Connell DA, et al. Among authors: bober mb. JBMR Plus. 2023 Nov 9;7(12):e10816. doi: 10.1002/jbm4.10816. eCollection 2023 Dec. JBMR Plus. 2023. PMID: 38130766 Free PMC article.
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
Savarirayan R, Wilcox WR, Harmatz P, Phillips J 3rd, Polgreen LE, Tofts L, Ozono K, Arundel P, Irving M, Bacino CA, Basel D, Bober MB, Charrow J, Mochizuki H, Kotani Y, Saal HM, Army C, Jeha G, Qi Y, Han L, Fisheleva E, Huntsman-Labed A, Day J. Savarirayan R, et al. Among authors: bober mb. Lancet Child Adolesc Health. 2024 Jan;8(1):40-50. doi: 10.1016/S2352-4642(23)00265-1. Epub 2023 Nov 18. Lancet Child Adolesc Health. 2024. PMID: 37984383 Clinical Trial.
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.
Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. Rios JJ, et al. Among authors: bober mb. Am J Hum Genet. 2023 Dec 7;110(12):2103-2111. doi: 10.1016/j.ajhg.2023.10.009. Epub 2023 Nov 3. Am J Hum Genet. 2023. PMID: 37924809 Free PMC article.
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.
Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
Campbell J, Legare JM, Piatt J, Gough E, Pauli RM, Hashmi SS, Rodriguez-Buritica DF, Modaff P, Little ME, Serna ME, Smid CJ, Dujmusic L, Hecht JT, Hoover-Fong JE, Bober MB. Campbell J, et al. Among authors: bober mb. J Neurosurg Pediatr. 2023 Sep 15;32(6):649-656. doi: 10.3171/2023.7.PEDS2354. Print 2023 Dec 1. J Neurosurg Pediatr. 2023. PMID: 37877951
120 results