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Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
Nahm NJ, Mackenzie WGS, Mackenzie WG, Gough E, Hashmi SS, Hecht JT, Legare JM, Little ME, Modaff P, Pauli RM, Rodriguez-Buritica DF, Serna ME, Smid CJ, Hoover-Fong J, Bober MB. Nahm NJ, et al. Among authors: pauli rm. Orphanet J Rare Dis. 2023 Jun 6;18(1):139. doi: 10.1186/s13023-023-02738-x. Orphanet J Rare Dis. 2023. PMID: 37280669 Free PMC article.
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: pauli rm. 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
Acanthosis nigricans in achondroplasia.
Smid CJ, Modaff P, Alade A, Legare JM, Pauli RM. Smid CJ, et al. Among authors: pauli rm. Am J Med Genet A. 2018 Dec;176(12):2630-2636. doi: 10.1002/ajmg.a.40506. Epub 2018 Oct 31. Am J Med Genet A. 2018. PMID: 30380187
Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.
Hoover-Fong JE, Alade AY, Hashmi SS, Hecht JT, Legare JM, Little ME, Liu C, McGready J, Modaff P, Pauli RM, Rodriguez-Buritica DF, Schulze KJ, Serna ME, Smid CJ, Bober MB. Hoover-Fong JE, et al. Among authors: pauli rm. Genet Med. 2021 Aug;23(8):1498-1505. doi: 10.1038/s41436-021-01165-2. Epub 2021 May 18. Genet Med. 2021. PMID: 34006999 Free PMC article.
Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers.
Legare JM, Liu C, Pauli RM, Alade AY, Hashmi SS, Campbell JW, Smid CJ, Modaff P, Little ME, Rodriguez-Buritica DF, Serna ME, Hecht JT, Hoover-Fong JE, Bober MB. Legare JM, et al. Among authors: pauli rm. J Neurosurg Pediatr. 2021 Jun 4;28(2):229-235. doi: 10.3171/2020.12.PEDS20715. J Neurosurg Pediatr. 2021. PMID: 34087800
163 results