Arundel P - Search Results

1

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.

Beer NL, van de Bunt M, Colclough K, Lukacs C, Arundel P, Chik CL, Grimsby J, Ellard S, Gloyn AL. Beer NL, et al. Among authors: arundel p. J Biol Chem. 2011 May 27;286(21):19118-26. doi: 10.1074/jbc.M111.223362. Epub 2011 Mar 29. J Biol Chem. 2011. PMID: 21454522 Free PMC article.

2

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: arundel p. 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.

3

Collagen gene polymorphisms influence fracture risk and bone mass acquisition during childhood and adolescent growth.

Blades HZ, Arundel P, Carlino WA, Dalton A, Crook JS, Freeman JV, Bishop NJ. Blades HZ, et al. Among authors: arundel p. Bone. 2010 Nov;47(5):989-94. doi: 10.1016/j.bone.2010.08.014. Epub 2010 Aug 21. Bone. 2010. PMID: 20736093

4

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.

Arundel P, Offiah A, Bishop NJ. Arundel P, et al. J Bone Miner Res. 2011 Apr;26(4):894-8. doi: 10.1002/jbmr.258. J Bone Miner Res. 2011. PMID: 20872883 Free article.

5

British Paediatric and Adolescent Bone Group's position statement on vitamin D deficiency.

Arundel P, Ahmed SF, Allgrove J, Bishop NJ, Burren CP, Jacobs B, Mughal MZ, Offiah AC, Shaw NJ; British Paediatric and Adolescent Bone Group. Arundel P, et al. BMJ. 2012 Dec 3;345:e8182. doi: 10.1136/bmj.e8182. BMJ. 2012. PMID: 23208261 No abstract available.

6

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. BMJ. 2013 Feb 19;346:f964. doi: 10.1136/bmj.f964. BMJ. 2013. PMID: 23423377 No abstract available.

7

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. Among authors: arundel p. Clin Dysmorphol. 2013 Jul;22(3):93-101. doi: 10.1097/MCD.0b013e32836032f0. Clin Dysmorphol. 2013. PMID: 23612438

8

Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study.

Balasubramanian M, Wagner BE, Peres LC, Sobey GJ, Parker MJ, Dalton A, Arundel P, Bishop NJ. Balasubramanian M, et al. Among authors: arundel p. Clin Dysmorphol. 2015 Apr;24(2):45-54. doi: 10.1097/MCD.0000000000000066. Clin Dysmorphol. 2015. PMID: 25436829

9

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: arundel p. 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

10

Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

Balasubramanian M, Cartwright A, Smith K, Arundel P, Bishop NJ. Balasubramanian M, et al. Among authors: arundel p. Am J Med Genet A. 2016 Feb;170A(2):476-481. doi: 10.1002/ajmg.a.37431. Epub 2015 Oct 15. Am J Med Genet A. 2016. PMID: 26471105

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