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283 results

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Page 1
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.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics; Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. Lee CS, et al. Among authors: sutton vr. Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019. Am J Hum Genet. 2017. PMID: 29100092 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.
283 results