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Reevaluation of Russell-Silver syndrome.
Saal HM, Pagon RA, Pepin MG. Saal HM, et al. Among authors: pepin mg. J Pediatr. 1985 Nov;107(5):733-7. doi: 10.1016/s0022-3476(85)80402-9. J Pediatr. 1985. PMID: 2414426
Arteriohepatic dysplasia: phenotypic features and family studies.
Mueller RF, Pagon RA, Pepin MG, Haas JE, Kawabori I, Stevenson JG, Stephan MJ, Blumhagen JD, Christie DL. Mueller RF, et al. Among authors: pepin mg. Clin Genet. 1984 Apr;25(4):323-31. doi: 10.1111/j.1399-0004.1984.tb01998.x. Clin Genet. 1984. PMID: 6424981
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Pyott SM, Schwarze U, Christiansen HE, Pepin MG, Leistritz DF, Dineen R, Harris C, Burton BK, Angle B, Kim K, Sussman MD, Weis M, Eyre DR, Russell DW, McCarthy KJ, Steiner RD, Byers PH. Pyott SM, et al. Among authors: pepin mg. Hum Mol Genet. 2011 Apr 15;20(8):1595-609. doi: 10.1093/hmg/ddr037. Epub 2011 Jan 31. Hum Mol Genet. 2011. PMID: 21282188 Free PMC article.
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.
Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium; Nagamani SC. Bellur S, et al. Genet Med. 2016 Jun;18(6):570-6. doi: 10.1038/gim.2015.131. Epub 2015 Oct 1. Genet Med. 2016. PMID: 26426884 Free PMC article.
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR; , Members of the Brittle Bone Disorders Consortium*,; Nagamani SCS. Jain M, et al. Genet Med. 2019 Feb;21(2):275-283. doi: 10.1038/s41436-018-0045-1. Epub 2018 Jul 4. Genet Med. 2019. PMID: 29970925 Free PMC article.
Genetic evaluation of suspected osteogenesis imperfecta (OI).
Byers PH, Krakow D, Nunes ME, Pepin M; American college of medical genetics. Byers PH, et al. Genet Med. 2006 Jun;8(6):383-8. doi: 10.1097/01.gim.0000223557.54670.aa. Genet Med. 2006. PMID: 16778601 Free PMC article.
38 results