Items where authors include "Arundel, P."

Article

Jenko, N., Connolly, D.J.A., Raghavan, A. et al. (6 more authors) (2022) The (extended) achondroplasia foramen magnum score has good observer reliability. Pediatric Radiology, 52. pp. 1512-1520. ISSN 0301-0449

Arshad, F., Arundel, P., Bishop, N. orcid.org/0000-0001-7263-8546 et al. (1 more author) (2022) Should we use weight-based vitamin D treatment in children? Archives of Disease in Childhood, 107 (6). pp. 620-621. ISSN 0003-9888

Thornley, P., Bishop, N. orcid.org/0000-0001-7263-8546, Baker, D. et al. (10 more authors) (2022) Non-collagen pathogenic variants resulting in the osteogenesis imperfecta phenotype in children: a single-country observational cohort study. Archives of Disease in Childhood, 107 (5). pp. 486-490. ISSN 0003-9888

Wadanamby, S., El Garwany, S., DJA, C. et al. (8 more authors) (2022) Monitoring skull base abnormalities in children with osteogenesis imperfecta – Review of current practice and a suggested clinical pathway. Bone, 154. 116235. ISSN 8756-3282

Campanini, E.H., Baker, D., Arundel, P. et al. (9 more authors) (2021) High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1. Bone Reports, 15. 101102.

Anderson, E., Lam, Z., Arundel, P. et al. (2 more authors) (2021) Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility. Clinical Genetics, 100 (3). pp. 352-354. ISSN 0009-9163

Durkin, A., DeVile, C., Arundel, P. et al. (11 more authors) (2021) Expanding the phenotype of SPARC-related osteogenesis imperfecta : clinical findings in two patients with pathogenic variants in SPARC and literature review. Journal of Medical Genetics. ISSN 0022-2593

Forestier-Zhang, L.Y., Arundel, P., Gilbey-Cross, R. et al. (3 more authors) (2021) Short report: craniosynostosis, a late complication of nutritional rickets. Journal of Pediatric Endocrinology and Metabolism, 34 (8). pp. 1055-1060. ISSN 0334-018X

Fennimore, D.J., Digby, M., Paggiosi, M. et al. (4 more authors) (2020) High-resolution peripheral quantitative computed tomography in children with osteogenesis imperfecta. Pediatric Radiology, 50. pp. 1781-1787. ISSN 0301-0449

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Jones, R., Milne, E. orcid.org/0000-0003-0127-0718 et al. (4 more authors) (2018) Autism and heritable bone fragility: A true association? Bone Rep, 8. pp. 156-162. ISSN 2352-1872

Kishnani, P.S., Rush, E.T., Arundel, P. et al. (10 more authors) (2017) Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Molecular Genetics and Metabolism, 122 (1-2). pp. 4-17. ISSN 1096-7192

Högler, W., Scott, J., Bishop, N. orcid.org/0000-0001-7263-8546 et al. (6 more authors) (2017) The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. Journal of Clinical Endocrinology & Metabolism, 102 (8). pp. 2734-2743. ISSN 0021-972X

Jewell, R., Sarkar, A., Jones, R. et al. (4 more authors) (2017) Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1. Clinical Dysmorphology. ISSN 0962-8827

Offiah, A. orcid.org/0000-0001-8991-5036, Adiotomre, E., Summers, L. et al. (8 more authors) (2017) Diagnostic accuracy of DXA compared to conventional spine radiographs for the detection of vertebral fractures in children. European Radiology, 27 (5). pp. 2188-2199. ISSN 0938-7994

Crabtree, N.J., Shaw, N.J., Bishop, N.J. orcid.org/0000-0001-7263-8546 et al. (10 more authors) (2017) Amalgamated Reference Data for Size-Adjusted Bone Densitometry Measurements in 3598 Children and Young Adults - The Alphabet Study. Journal of Bone and Mineral Research, 32 (1). pp. 172-180. ISSN 1523-4681

Marshall, C.J., Arundel, P., Mushtaq, T. et al. (4 more authors) (2016) 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. American Journal of Medical Genetics Part A, 170 (12). pp. 3303-3307. ISSN 1552-4825

Pollitt, R.C. orcid.org/0000-0002-8864-397X, Saraff, V., Dalton, A. et al. (10 more authors) (2016) Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations. American Journal of Medical Genetics Part A. ISSN 1552-4825

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Sobey, G.J., Wagner, B.E. et al. (6 more authors) (2016) Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation. Ultrastructural Pathology, 40 (2). pp. 71-76. ISSN 0191-3123

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hurst, J., Brown, S. et al. (16 more authors) (2016) Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone, 94. pp. 65-74. ISSN 8756-3282

Proceedings Paper

Peacock, A., Offiah, A.C. orcid.org/0000-0001-8991-5036, Balasubramanian, M. orcid.org/0000-0003-1488-3695 et al. (2 more authors) (2019) Radiographic evidence of zoledronic acid given during pregnancy - a case report. In: Bone Abstracts. 9th International Conference on Children's Bone Health, 22-25 Jun 2019, Salzburg, Austria. Bioscientifica .

Balasubramanian, M., Hurst, J., DeVile, C. et al. (8 more authors) (2017) NBAS variants causing a novel form of inherited bone fragility. In: Bone Abstracts. 8th International Conference on Children's Bone Health , 10-13 Jun 2017, Wurzburg, Germany. Bioscientifica , Bristol, UK .

Sithambaram, S., Bishop, N., Shankar, L. et al. (5 more authors) (2017) Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases. In: Bone Abstracts. 8th International Conference on Children's Bone Health , 10-13 Jun 2017, Wurzburg, Germany. Bioscientifica , Bristol, UK .

Hogler, W., Bishop, N. orcid.org/0000-0001-7263-8546, Arundel, P. et al. (6 more authors) (2017) The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta and limited mobility: a randomized controlled pilot trial. In: Bone Abstracts. 8th International Conference on Children's Bone Health, 10-13 Jun 2017, Wuzburg, Germany. Bioscientifica .