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289 results

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Next-generation sequencing for disorders of low and high bone mineral density.
Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH. Sule G, et al. Among authors: sutton vr. Osteoporos Int. 2013 Aug;24(8):2253-9. doi: 10.1007/s00198-013-2290-0. Epub 2013 Feb 27. Osteoporos Int. 2013. PMID: 23443412 Free PMC article.
A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.
Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR. Patel RM, et al. Among authors: sutton vr. Clin Genet. 2015 Feb;87(2):133-40. doi: 10.1111/cge.12409. Epub 2014 May 30. Clin Genet. 2015. PMID: 24754836 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. Among authors: sutton vr. 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.
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
Almannai M, Marom R, Divin K, Scaglia F, Sutton VR, Craigen WJ, Lee B, Burrage LC, Graham BH. Almannai M, et al. Among authors: sutton vr. Mol Genet Metab. 2017 Sep;122(1-2):60-66. doi: 10.1016/j.ymgme.2017.06.011. Epub 2017 Jun 29. Mol Genet Metab. 2017. PMID: 28693988 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. Among authors: sutton vr. 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.
Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.
Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium. Retrouvey JM, et al. Among authors: sutton vr. Eur J Med Genet. 2019 Dec;62(12):103606. doi: 10.1016/j.ejmg.2018.12.011. Epub 2018 Dec 26. Eur J Med Genet. 2019. PMID: 30593885 Free PMC article.
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Burrage LC, Thistlethwaite L, Stroup BM, Sun Q, Miller MJ, Nagamani SCS, Craigen W, Scaglia F, Sutton VR, Graham B, Kennedy AD; Members of the UCDC,; Milosavljevic A, Lee BH, Elsea SH. Burrage LC, et al. Among authors: sutton vr. Genet Med. 2019 Sep;21(9):1977-1986. doi: 10.1038/s41436-019-0442-0. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670878 Free PMC article.
289 results