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Page 1
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Balasubramanian M, Hurst J, Brown S, Bishop NJ, Arundel P, DeVile C, Pollitt RC, Crooks L, Longman D, Caceres JF, Shackley F, Connolly S, Payne JH, Offiah AC, Hughes D; DDD Study; Parker MJ, Hide W, Skerry TM. Balasubramanian M, et al. Among authors: offiah ac. Bone. 2017 Jan;94:65-74. doi: 10.1016/j.bone.2016.10.023. Epub 2016 Oct 24. Bone. 2017. PMID: 27789416 Free PMC article.
Authors' reply to Nussey.
Arundel P, Ahmed SF, Allgrove J, Bishop NJ, Burren CP, Jacobs B, Mughal MZ, Offiah AC, Shaw NJ. Arundel P, et al. Among authors: offiah ac. BMJ. 2013 Feb 19;346:f964. doi: 10.1136/bmj.f964. BMJ. 2013. PMID: 23423377 No abstract available.
Genotype-phenotype study in type V osteogenesis imperfecta.
Balasubramanian M, Parker MJ, Dalton A, Giunta C, Lindert U, Peres LC, Wagner BE, Arundel P, Offiah A, Bishop NJ. Balasubramanian M, et al. Clin Dysmorphol. 2013 Jul;22(3):93-101. doi: 10.1097/MCD.0b013e32836032f0. Clin Dysmorphol. 2013. PMID: 23612438
CRTAP mutation in a patient with Cole-Carpenter syndrome.
Balasubramanian M, Pollitt RC, Chandler KE, Mughal MZ, Parker MJ, Dalton A, Arundel P, Offiah AC, Bishop NJ. Balasubramanian M, et al. Among authors: offiah ac. Am J Med Genet A. 2015 Mar;167A(3):587-91. doi: 10.1002/ajmg.a.36916. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604815
The aetiology of rickets-like lower limb deformities in Malawian children.
Braithwaite VS, Freeman R, Greenwood CL, Summers DM, Nigdikar S, Lavy CBD, Offiah AC, Bishop NJ, Cashman J, Prentice A. Braithwaite VS, et al. Among authors: offiah ac. Osteoporos Int. 2016 Jul;27(7):2367-2372. doi: 10.1007/s00198-016-3541-7. Epub 2016 Apr 8. Osteoporos Int. 2016. PMID: 27059923 Free PMC article.
HR-pQCT: a non-invasive 'biopsy' to assess bone structure and strength.
Digby MG, Bishop NJ, Paggiosi MA, Offiah AC. Digby MG, et al. Among authors: offiah ac. Arch Dis Child Educ Pract Ed. 2016 Oct;101(5):268-70. doi: 10.1136/archdischild-2015-309455. Epub 2016 Apr 27. Arch Dis Child Educ Pract Ed. 2016. PMID: 27122599 Free article. No abstract available.
Erratum to: The aetiology of rickets-like lower limb deformities in Malawian children.
Braithwaite VS, Freeman R, Greenwood CL, Summers DM, Nigdikar S, Lavy CBD, Offiah AC, Bishop NJ, Cashman J, Prentice A. Braithwaite VS, et al. Among authors: offiah ac. Osteoporos Int. 2016 Sep;27(9):2889. doi: 10.1007/s00198-016-3680-x. Osteoporos Int. 2016. PMID: 27349560 Free PMC article. No abstract available.
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
Marshall CJ, Arundel P, Mushtaq T, Offiah AC, Pollitt RC, Bishop NJ, Balasubramanian M. Marshall CJ, et al. Among authors: offiah ac. Am J Med Genet A. 2016 Dec;170(12):3303-3307. doi: 10.1002/ajmg.a.37943. Epub 2016 Aug 23. Am J Med Genet A. 2016. PMID: 27549894 Free article.
196 results