Professor Nick Bishop
School of Medicine and Population Health
Chair in Paediatric Bone Disease
Full contact details
School of Medicine and Population Health
The Medical School
Beech Hill Road
Sheffield
S10 2RX
- Profile
-
For enquiries please contact - SMPH-West-Operational@sheffield.ac.uk
The UK's only Professor of Paediatric Bone Disease.
Trained in Manchester (clinical), Cambridge (MRC and Wellcome Fellowships) and Montreal (visiting Professor at McGill). Appointed to Chair in Sheffield in 1998.
Clinical research group focuses on the treatment of childhood bone fragility and rare bone diseases; basic science group on early life events and skeletal development, as well as the pathophysiology of childhood bone diseases.
- Research interests
-
Our research aims to improve outcomes for children with inherited and acquired bone diseases and understand better the factors contributing to fracture in apparently healthy children.
We are working with colleagues locally and nationally to determine the phenotype-genotype relationships in early onset bone fragility disorders, and to develop a pipeline to bring forward new therapies in these disorders.
Our previous clinical studies of the use of bisphosphonates in osteogenesis imperfecta (OI) showed that bone mass increases in a dose-responsive manner in moderate-severely affected children without a clear reduction in fracture risk; and that mildly affected children can reduce fracture risk by approximately 50% when taking the oral bisphosphonate risedronate. We recruited the first UK patient to the Amgen-funded study of Denosumab in OI. We participated in the global studies of asfotase alfa, a recombinant enzyme replacement therapy for hypophosphatasia (HPP), leading in Europe initially with children travelling from other EU countries to participate.
We have developed a new biomarker to assess the acute skeletal response to mechanical stimulation that is now being used in prospective studies of children with fracture and OI.
In collaboration with colleagues nationally, we are assessing the effects of antenatal vitamin D supplementation on skeletal development and health; we have developed a model system of antenatal vitamin D depletion in which we are assessing the postnatal response to mechanical loading.
Internationally, we are developing the European Reference Network for Rare Bone Diseases that will deliver improved health care outcomes for patients with skeletal disorders such as OI and HPP, translating our research into clinical practice.Principal funding sources:
- MRC
- NIHR
- Arthritis Research Campaign
- Sir Halley Stewart Trust
- Amgen
- Alexion Pharma
- Publications
-
Show: Featured publications All publications
Featured publications
Journal articles
- Children's emergency presentations during the COVID-19 pandemic. The Lancet Child & Adolescent Health, 4(8), e32-e33.
- Maternal pregnancy vitamin D supplementation increases offspring bone formation in response to mechanical loading : findings from a MAVIDOS trial sub-study. Journal of Musculoskeletal Neuronal Interactions, 20(1), 4-11.
- The prevention and treatment of glucocorticoid-induced osteopaenia in juvenile rheumatic disease : a randomised double-blind controlled trial. EClinicalMedicine, 12, 79-87.
- Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial.. Lancet Diabetes and Endocrinology, 7(2), 93-105.
- Early life vitamin D depletion alters the postnatal response to skeletal loading in growing and mature bone. PLoS One, 13(1). View this article in WRRO
- 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), 172-180. View this article in WRRO
- Maternal gestational vitamin D supplementation and offspring bone health (MAVIDOS): a multicentre, double-blind, randomised placebo-controlled trial. The Lancet Diabetes & Endocrinology, 4(5), 393-402. View this article in WRRO
- Acute bone response to whole body vibration in healthy pre-pubertal boys. Journal of Musculoskeletal and Neuronal Interactions (JMNI), 15(2), 112-122. View this article in WRRO
- Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions. Journal of Clinical Densitometry.
- Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.. Lancet, 382(9902), 1424-1432.
- Enzyme-replacement therapy in life-threatening hypophosphatasia. New England Journal of Medicine, 366(10), 904-913.
- Association between bone mass and fractures in children: A prospective cohort study. J BONE MINER RES, 21(9), 1489-1495.
- Cyclic Administration of Pamidronate in Children with Severe Osteogenesis Imperfecta. New England Journal of Medicine, 339(14), 947-952.
- Aluminum Neurotoxicity in Preterm Infants Receiving Intravenous-Feeding Solutions. New England Journal of Medicine, 336(22), 1557-1562.
All publications
Journal articles
- Pilot study to investigate sleep and breathing related complications in children and young people with osteogenesis imperfecta. BMC Musculoskeletal Disorders, 26(1). View this article in WRRO
- Mobility and quality of life in children with paediatric-onset hypophosphatasia treated with asfotase alfa: results from UK managed access agreement. Advances in Therapy, 42(7), 3528-3546. View this article in WRRO
- An observational study of the prevalence of classic metaphyseal fractures in children with osteogenesis imperfecta in the first two years of life. Clinical Radiology, 87, 106964-106964.
- Pregnancy vitamin D supplementation and offspring bone mineral density in childhood follow-up of a randomized controlled trial. The American Journal of Clinical Nutrition, 120(5), 1134-1142.
- Losartan alters osteoblast differentiation and increases bone mass through inhibition of TGFB signalling in vitro and in an OIM mouse model. Bone Reports, 22. View this article in WRRO
- Medical management for fracture prevention in children with osteogenesis imperfecta. Calcified Tissue International, 115(6), 812-827. View this article in WRRO
- UK paediatric trainee research involvement: A national mixed-methods survey to highlight opportunities and challenges. Archives of Disease in Childhood, 109(3), 256-257.
- A focus on fractures: Understanding and addressing fracture risk in rare bone disorders. JBMR PLUS, 7.
- Does antenatal cholecalciferol supplementation affect the mode or timing of delivery? Post hoc analyses of the MAVIDOS randomized controlled trial. Journal of Public Health.
- Parathyroid hormone changes in infants investigated for inflicted injury; an observational retrospective single centre cohort study. Child Abuse & Neglect, 131.
- Pregnancy vitamin D supplementation and childhood bone mass at age 4 years : findings from the Maternal Vitamin D Osteoporosis Study (MAVIDOS) randomized controlled trial. JBMR Plus, 6(7).
- Early life vitamin D depletion and mechanical loading determine methylation changes in the RUNX2, RXRA, and osterix promoters in mice. Genes & Nutrition, 17(1).
- Bisphosphonate treatment alters the skeletal response to mechanical stimulation in children with osteogenesis imperfecta : a pilot study. JBMR Plus, 6(3). View this article in WRRO
- Should we use weight-based vitamin D treatment in children?. Archives of Disease in Childhood, 107(6), 620-621.
- 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), 486-490.
- Monitoring skull base abnormalities in children with osteogenesis imperfecta – Review of current practice and a suggested clinical pathway. Bone, 154. View this article in WRRO
- 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. View this article in WRRO
- Pregnancy vitamin D supplementation leads to greater offspring bone mineral density at age 4 years: findings from the MAVIDOS trial. Proceedings of the Nutrition Society, 80(OCE5).
- 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.
- Osteogenesis imperfecta in children. Bone, 148, 115914-115914.
- High-resolution peripheral quantitative computed tomography in children with osteogenesis imperfecta. Pediatric Radiology, 50, 1781-1787. View this article in WRRO
- Children's emergency presentations during the COVID-19 pandemic. The Lancet Child & Adolescent Health, 4(8), e32-e33.
- Evaluation of vibration analysis to assess bone mineral density in children. WSEAS Transactions on Biology and Biomedicine, 17, 39-47. View this article in WRRO
- O13 Pregnancy vitamin D supplementation leads to greater offspring bone mineral density at 4 years: the MAVIDOS randomised placebo controlled trial. Rheumatology, 59(Supplement_2).
- Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporosis International, 31(8), 1445-1460.
- HR‐pQCT measures of bone microarchitecture predict fracture : systematic review and meta‐analysis. Journal of Bone and Mineral Research, 35(3), 446-459. View this article in WRRO
- Maternal pregnancy vitamin D supplementation increases offspring bone formation in response to mechanical loading : findings from a MAVIDOS trial sub-study. Journal of Musculoskeletal Neuronal Interactions, 20(1), 4-11.
- Scientific Business Abstracts of the 113th Annual Meeting of the Association of Physicians of Great Britain and Ireland. QJM: An International Journal of Medicine, 112(9), 724-729.
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta. Journal of Pediatric Endocrinology and Metabolism, 32(8), 907-909.
- The prevention and treatment of glucocorticoid-induced osteopaenia in juvenile rheumatic disease : a randomised double-blind controlled trial. EClinicalMedicine, 12, 79-87.
- Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study. The Journal of Clinical Endocrinology & Metabolism, 104(7), 2735-2747.
- OR13-4 Safety Profile of Asfotase Alfa Treatment of Patients with Hypophosphatasia: A Pooled Analysis. Journal of the Endocrine Society, 3(Supplement_1).
- O29 Bone turnover in pregnancy, measured by urinary C-terminal telopeptide of type I collagen (CTX), is influenced by vitamin D supplementation and is associated with maternal bone health: findings from the MAVIDOS trial. Rheumatology, 58(Supplement_3).
- Estimating bone mass in children: can bone health index replace dual energy x-ray absorptiometry?. Pediatric Radiology, 49(3), 372-378. View this article in WRRO
- Gestational vitamin D supplementation leads to reduced perinatal RXRA DNA methylation: Results from the MAVIDOS trial. Journal of Bone and Mineral Research, 34(2), 231-240. View this article in WRRO
- Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial.. Lancet Diabetes and Endocrinology, 7(2), 93-105.
- The Effect of Vitamin D Supplementation on Hepcidin, Iron Status, and Inflammation in Pregnant Women in the United Kingdom.. Nutrients, 11(1). View this article in WRRO
- Effect of vitamin D supplementation on free and total vitamin D: a comparison of Asians vs Caucasians. Clinical Endocrinology, 90(1), 222-231. View this article in WRRO
- Abstracts from the First Scientific Meeting of the Soft Bones Foundation. JBMR Plus, 2(S2).
- New diagnostic modalities and emerging treatments for neonatal bone disease. Early Human Development, 126, 32-37. View this article in WRRO
- Elevated platelet counts in a cohort of children with moderate-severe osteogenesis imperfecta suggest that inflammation is present. Archives of Disease in Childhood , 103(8), 767-781. View this article in WRRO
- Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. American Journal of Medical Genetics Part A, 176(7), 1578-1586. View this article in WRRO
- i149 Osteogenesis imperfecta: pathophysiology and treatment in childhood. Rheumatology, 57(suppl_3).
- Autism and heritable bone fragility: A true association?. Bone Rep, 8, 156-162. View this article in WRRO
- P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55(3), 158-165. View this article in WRRO
- Type V osteogenesis imperfecta undergoing surgical correction for scoliosis. European Spine Journal, 27(9), 2079-2084.
- Early life vitamin D depletion alters the postnatal response to skeletal loading in growing and mature bone. PLoS One, 13(1). View this article in WRRO
- Response to Letter to the Editor: “The Effect of Whole Body Vibration Training on Bone and Muscle Function in Children With Osteogenesis Imperfecta”. The Journal of Clinical Endocrinology & Metabolism, 102(11), 4262-4263.
- Response to antenatal cholecalciferol supplementation is associated with common vitamin D related genetic variants.. Journal of Clinical Endocrinology and Metabolism, 102(8), 2941-2949. View this article in WRRO
- Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.. Molecular Genetics and Metabolism, 122(1-2), 4-17. View this article in WRRO
- Clinical practice recommendations for native vitamin D therapy in children with chronic kidney disease Stages 2-5 and on dialysis. Nephrology Dialysis Transplantation, 32(7), 1098-1113.
- The effect of whole body vibration training on bone and muscle function in children with osteogenesis imperfecta. Journal of Clinical Endocrinology & Metabolism, 102(8), 2734-2743. View this article in WRRO
- Diagnostic accuracy of DXA compared to conventional spine radiographs for the detection of vertebral fractures in children. European Radiology, 27(5), 2188-2199. View this article in WRRO
- 157. PERINATAL DNA METHYLATION AT THE RXRA PROMOTER IS ASSOCIATED WITH GESTATIONAL VITAMIN D SUPPLEMENTATION: RESULTS FROM THE MAVIDOS TRIAL. Rheumatology, 56(suppl_2).
- Managing the patient with osteogenesis imperfecta: a multidisciplinary approach. Journal of Multidisciplinary Healthcare, 10, 145-155.
- 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), 172-180. View this article in WRRO
- The relationship between maternal self-efficacy, compliance and outcome in a trial of vitamin D supplementation in pregnancy. Osteoporosis International, 28(1), 77-84.
- Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.. Bone, 94, 65-74. View this article in WRRO
- Determinants of the Maternal 25-Hydroxyvitamin D Response to Vitamin D Supplementation During Pregnancy.. Journal of Clinical Endocrinology and Metabolism, 101(12), 5012-5020. View this article in WRRO
- The RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases. Orphanet Journal of Rare Diseases, 11(1). View this article in WRRO
- Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.. American Journal of Medical Genetics Part A. View this article in WRRO
- 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), 3303-3307. View this article in WRRO
- The aetiology of rickets-like lower limb deformities in Malawian children. Osteoporosis International, 27(7), 2367-2372. View this article in WRRO
- Erratum to: The aetiology of rickets-like lower limb deformities in Malawian children. Osteoporosis International, 27(9), 2889-2889.
- Transformative therapy in hypophosphatasia. Archives of Disease in Childhood, 101(6).
- Maternal gestational vitamin D supplementation and offspring bone health (MAVIDOS): a multicentre, double-blind, randomised placebo-controlled trial. The Lancet Diabetes & Endocrinology, 4(5), 393-402. View this article in WRRO
- HR-pQCT: a non-invasive 'biopsy' to assess bone structure and strength.. Arch Dis Child Educ Pract Ed, 101, 268-270.
- Bone Material Properties in Osteogenesis Imperfecta. Journal of Bone and Mineral Research, 31(4), 699-708.
- Recurrent Proximal Femur Fractures in a Teenager with Osteogenesis Imperfecta on Continuous Bisphosphonate Therapy: Are we Overtreating?. Journal of Bone and Mineral Research, 31(7), 1449-1454.
- Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation. Ultrastructural Pathology, 40(2), 71-76.
- Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. The Journal of Clinical Endocrinology & Metabolism, 101(1), 334-342.
- Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. American Journal of Medical Genetics Part A, 170(2), 476-481.
- Bone strength in children: understanding basic bone biomechanics. Archives of disease in childhood - Education & practice edition, 101(1), 2-7.
- Primary Osteoporosis, 162-175.
- Acute bone response to whole body vibration in healthy pre-pubertal boys. Journal of Musculoskeletal and Neuronal Interactions (JMNI), 15(2), 112-122. View this article in WRRO
- Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta. Clinical Dysmorphology, 24(2), 45-54.
- CRTAPmutation in a patient with Cole‐Carpenter syndrome. American Journal of Medical Genetics Part A, 167(3), 587-591.
- Lack of prolidase causes a bone phenotype both in human and in mouse. Bone, 72, 53-64.
- Leptin may play a role in bone microstructural alterations in obese children.. Journal of Clinical Endocrinology & Metabolism, 100(2), 594-602. View this article in WRRO
- Vitamin D supplementation in pregnancy: a systematic review.. Health Technol Assess, 18(45), 1-190.
- Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions. Journal of Clinical Densitometry.
- Osteogenesis imperfecta in adults. Journal of Clinical Investigation, 124(2), 476-477.
- Rickets.. Lancet, 383(9929), 1665-1676.
- Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.. Lancet, 382(9902), 1424-1432.
- Genotype-phenotype study in type V osteogenesis imperfecta.. Clin Dysmorphol, 22(3), 93-101.
- Authors' reply to Nussey.. BMJ, 346, f964.
- Sinus Hypoplasia and Intracranial Hypertension in Pycnodysostosis (SHIHP): A New Disease Process?. Annals of Paediatric Rheumatology, 2(1), 56-56.
- British Paediatric and Adolescent Bone Group's position statement on vitamin D deficiency.. BMJ, 345, e8182.
- Metabolic Bone Disease in the Neonatal Period and Its Later Sequelae, 655-677.
- Spectral analysis of bone low frequency vibration signals. Proceedings of the 2012 8th International Symposium on Communication Systems Networks and Digital Signal Processing Csndsp 2012.
- Enzyme-replacement therapy in life-threatening hypophosphatasia. New England Journal of Medicine, 366(10), 904-913.
- Endoscopic endonasal resection of the odontoid peg for paediatric basilar invagination. British Journal of Neurosurgery, 26(4), 487-489.
- MAVIDOS Maternal Vitamin D Osteoporosis Study: Study protocol for a randomized controlled trial. The MAVIDOS Study Group. Trials, 13.
- Obesity is a risk factor for fracture in children but is protective against fracture in adults: a paradox.. Bone, 50(2), 457-466.
- Management of osteogenesis imperfecta (OI). Paediatrics and Child Health, 21(12), 569-570.
- The role of bone shape in determining gender differences in vertebral bone mass.. J Clin Densitom, 14(4), 440-446.
- Type 1 collagenopathy presenting with a Russell-Silver phenotype.. Am J Med Genet A, 155A(6), 1414-1418.
- TREATMENT OF HYPOPHOSPHATASIA (HPP) IN INFANTS AND YOUNG CHILDREN WITH SUBCUTANEOUS ENZYME REPLACEMENT THERAPY, ENB-0040: SKELETAL RADIOGRAPHIC OUTCOMES AT 6 AND 12 MONTHS. JOURNAL OF INHERITED METABOLIC DISEASE, 34, S222-S222.
- Adipokines, bone-derived factors and bone turnover in obese children; evidence for altered fat-bone signalling resulting in reduced bone mass.. Bone, 48(2), 189-196.
- Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.. J Bone Miner Res, 26(4), 894-898.
- Characterising and treating osteogenesis imperfecta.. Early Hum Dev, 86(11), 743-746.
- Collagen gene polymorphisms influence fracture risk and bone mass acquisition during childhood and adolescent growth.. Bone, 47(5), 989-994.
- Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis. Bone, 47, S222-S222.
- A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta.. J Bone Miner Res, 25(1), 32-40.
- Diagnosing osteogenesis imperfecta. Paediatrics and Child Health, 20(5), 225-231.
- Fat and Bone in Children: Differential Effects of Obesity on Bone Size and Mass According to Fracture History. J BONE MINER RES, 25(3), 527-536.
- Official positions of the International Society for Clinical Densitometry (ISCD) on DXA evaluation in children and adolescents. PEDIATR NEPHROL, 25(1), 37-47.
- DXA in Adults and Children, 151-158.
- Juvenile Osteoporosis, 264-267.
- ERRATUM. PEDIATRICS, 124(6), 1709-1709.
- Aluminum Exposure From Parenteral Nutrition in Preterm Infants: Bone Health at 15-Year Follow-up. PEDIATRICS, 124(5), 1372-1379.
- Hypophosphatasia-a new approach to treatment using a recombinant bone-targeted alkaline phosphatase. BONE, 45, S50-S51.
- Primary osteoporosis.. Endocr Dev, 16, 157-169.
- [Prevention and treatment of osteoporosis in children].. Arch Pediatr, 16(6), 596.
- Adipokines may modify osteoblast Wnt signalling through Dickkopf-1, and promote osteoclastogenesis by altering RANK-ligand and osteoprotegerin signalling in obese children. HORM RES, 72, 220-221.
- The peroxisome proliferator activator receptor alpha/delta agonists linoleic acid and bezafibrate upregulate osteoblast differentiation and induce periosteal bone formation in vivo.. Calcif Tissue Int, 83(4), 285-292.
- International Society for Clinical Densitometry 2007 Adult and Pediatric Official Positions. BONE, 43(6), 1115-1121.
- Special report on the 2007 adult and pediatric Position Development Conferences of the International Society for Clinical Densitometry. OSTEOPOROSIS INT, 19(10), 1369-1378.
- Intravenous zoledronic acid (ZOL) compared to IV pamidronate (PAM) in children with severe osteogenesis imperfecta (OI). CALCIFIED TISSUE INTERNATIONAL, 82, S85-S85.
- Dual-energy X-ray aborptiometry assessment in children and adolescents with diseases that may affect the skeleton: the 2007 ISCD Pediatric Official Positions.. J Clin Densitom, 11(1), 29-42.
- Special report on the 2007 pediatric Position Development Conference of the International Society for Clinical Densitometry. SOUTH MED J, 101(7), 740-743.
- Two doses of pamidronate in infants with osteogenesis imperfecta.. Arch Dis Child, 93(5), 398-400.
- Cerebroretinal Microangiopathy with Calcifications and Cysts (CRMCC). American Journal of Medical Genetics Part A, 146(2), 182-190.
- CMT3 alters mitochondrial function in murine osteoclast lineage cells.. Biochem Biophys Res Commun, 365(4), 840-845.
- Failure to repair the c.338C>T mutation in carnitine palmitoyl transferase 2 deficient skin fibroblasts using chimeraplasty.. Mol Genet Metab, 93(3), 347-349.
- How should we evaluate bone mass in children? - Reply. J BONE MINER RES, 22(8), 1314-1314.
- Rickets: New insights into a re-emerging problem. Current Opinion in Orthopaedics, 18(5), 486-493.
- Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. NAT GENET, 39(8), 960-962.
- Rickets. Paediatrics and Child Health, 17(7), 279-287.
- Unexplained fractures in infancy: looking for fragile bones.. Arch Dis Child, 92(3), 251-256.
- Association between bone mass and fractures in children: A prospective cohort study. J BONE MINER RES, 21(9), 1489-1495.
- Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.. Hum Mutat, 27(7), 716.
- Fractures and recurrent fractures in children; varying effects of environmental factors as well as bone size and mass.. Bone, 39(3), 652-657.
- Metabolic Bone Diseases in Childhood Cancer, 459-467.
- Treatment modalities in paediatric bone disease. HORMONE RESEARCH, 65, 6-6.
- Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J MED GENET, 43(4), 315-325.
- Don't ignore vitamin D.. Arch Dis Child, 91(7), 549-550.
- Osteogenesis imperfecta. BONE, 36, S14-S14.
- Skeletal maturation in cerebral palsy.. Dev Med Child Neurol, 47(4), 220.
- Perinatal Vitamin D Actions, 1, 803-810.
- Bisphosphonate treatment of bone disease. ARCH DIS CHILD, 90(5), 494-499.
- Osteogenesis imperfecta. Medicine, 33(12), 67-69.
- Epidemiology of childhood fractures in Britain: A study using the General Practice Research Database. J BONE MINER RES, 19(12), 1976-1981.
- Chemically modified tetracyclines act through multiple mechanisms directly on osteoclast precursors.. Bone, 35(2), 471-478.
- Intravenous pamidronate treatment in children with moderate to severe osteogenesis imperfecta: assessment of indices of dual-energy X-ray absorptiometry and bone metabolic markers during the first year of therapy.. Bone, 34(3), 539-546.
- Osteogenesis imperfecta. Clinical Reviews in Bone and Mineral Metabolism, 2(1), 19-35.
- Are inhaled corticosteroids associated with an increased risk of fracture in children?. OSTEOPOROSIS INT, 15(10), 785-791.
- Osteogenesis Imperfecta: Recent Progress in Many Areas. Clinical Reviews in Bone and Mineral Metabolism, 2(1), 19-35.
- VITAMIN D DURING PREGNANCY AND GROWTH IN EARLY INFANCY. CALCIFIED TISSUE INT, 74, S111-S111.
- WHAT CAUSES RECURRENT FRACTURES IN CHILDHOOD?. CALCIFIED TISSUE INT, 74, S110-S111.
- Prenatal and infant predictors of bone health: the influence of vitamin D.. Am J Clin Nutr, 80(6 Suppl), 1748S-1751S.
- Children and the risk of fractures caused by oral corticosteroids. J BONE MINER RES, 18(5), 913-918.
- Rickets. Lancet, 362(9393), 1389-1400.
- The burden of musculoskeletal conditions at the start of the new millennium. World Health Organization Technical Report Series(919).
- Recent advances in the management of osteogenesis imperfecta. Current Paediatrics, 13(2), 151-157.
- Male sex and low physical activity are associated with reduced spine bone mineral density in survivors of childhood acute lymphoblastic leukemia.. J Bone Miner Res, 17(6), 1073-1080.
- Clinical aspects of collagen disorders. J BONE MINER RES, 17(7), 1319-1319.
- Clinical management of childhood osteoporosis.. Int J Clin Pract, 56(4), 280-286.
- Skeletal health during childhood and adolescence. Duodecim Laaketieteellinen Aikakauskirja, 118(12), 1251-1295.
- Proliferative effects of growth factors on osteoprogenitor cells isolated from skeletal muscle. BONE, 30(3), 11S-11S.
- Establishing good bone health. Current Paediatrics, 12(2), 125-129.
- The use of inhaled corticosteroids is not associated with an increased risk of fracture in children.. J BONE MINER RES, 16, S174-S174.
- Mutation detection in Osteogenesis Imperfecta patients. JOURNAL OF MEDICAL GENETICS, 38, S67-S67.
- Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease. Journal of Bone and Mineral Research, 15(9), 1650-1658.
- Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. Journal of Clinical Endocrinology and Metabolism, 85(5), 1846-1850.
- Incidence of vertebral fractures in the first three months after orthotopic liver transplantation. European Journal of Gastroenterology & Hepatology, 12(8), 931-935.
- Peripheral blood as an alternative source of mesenchymal stem cells.. JOURNAL OF BONE AND MINERAL RESEARCH, 15(6), 1239-1239.
- Neonatal factors predicting childhood height in preterm infants: Evidence for a persisting effect of early metabolic bone disease?. J PEDIATR, 137(5), 668-673.
- Osteogenesis imperfecta in the differential diagnosis of child abuse. OSTEOPOROSIS INT, 11, S16-S17.
- Bone mineralization and turnover in preterm infants at 8-12 years of age: The effect of early diet. J BONE MINER RES, 14(5), 810-820.
- Immunolocalisation of vascular endothelial growth factor (VEGF) in human neonatal growth plate cartilage. Journal of Anatomy, 194(4), 519-524.
- Rickets today - Children still need milk and sunshine. New England Journal of Medicine, 341(8), 602-604.
- Changes in calcium homoeostasis in patients undergoing liver transplantation: effects of a single infusion of pamidronate administered pre-operatively. Clinical Science, 97(2), 157-157.
- Osteogenesis imperfecta calls for caution. NAT MED, 5(5), 466-466.
- Osteogenesis imperfecta calls for caution-first letter. Nature Medicine, 5(5), 466-466.
- Interpretation of bone mineral density values in pediatric Crohn's disease. Inflammatory Bowel Diseases, 4(4), 261-267.
- Cyclic Administration of Pamidronate in Children with Severe Osteogenesis Imperfecta. New England Journal of Medicine, 339(14), 947-952.
- Expression and distribution of transforming growth factor-β isoforms and their signaling receptors in growing human bone. Bone, 23(2), 95-102.
- Perinatal vitamin D metabolism. Seminars in Neonatology, 3(2), 143-147.
- Breastfeeding and catch‐up growth in infants born small for gestational age. Acta Paediatrica, 86(6), 564-569.
- Bone mineralization and turnover in children with congenital neutropenia, and its relationship to treatment with recombinant human granulocyte‐colony stimulating factor. British Journal of Haematology, 97(4), 734-736.
- Aluminum Toxicity in Preterm Infants. New England Journal of Medicine, 337(15), 1090-1091.
- Aluminum Neurotoxicity in Preterm Infants Receiving Intravenous-Feeding Solutions. New England Journal of Medicine, 336(22), 1557-1562.
- High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann’s syndrome). The Journal of Pediatrics, 131(4), 592-597.
- Q fever in pregnancy. Journal of Infection, 34(1), 75-78.
- Early diet of preterm infants and bone mineralization at age five years. Acta Paediatrica, 85(2), 230-236.
- Total energy expenditure in small for gestational age infants.. Archives of Disease in Childhood - Fetal and Neonatal Edition, 75(1), F46-F48.
- Randomized outcome trial of human milk fortification and developmental outcome in preterm infants. The American Journal of Clinical Nutrition, 64(2), 142-151.
- Osteoporosis in severe congenital neutropenia treated with granulocyte colony‐stimulating factor. British Journal of Haematology, 89(4), 927-928.
- Rate of radial bone mineral accretion in healthy children. Acta Paediatrica, 84(4), 383-387.
- Bone mineralisation in type 1 glycogen storage disease. European Journal of Pediatrics, 154(6), 483-487.
- Mineral accretion in growing bones--a framework for the future?. Archives of Disease in Childhood, 72(2), 177-179.
- Determination of copper, zinc and aluminium from dietary sources in the femur, brain and kidney of guinea pigs and a study of some elements in in vivo intestinal digesta by size-exclusion chromatography inductively coupled plasma mass spectrometry. The Analyst, 120(3), 705-705.
- Erratum: Osteoporosis in severe congenital neutropenia treated with granulocyte colony-stimulating factor (British Journal of Haematology, 89, (1995) 927-928). British Journal of Haematology, 90(2), 492.
- Feeding the preterm infant. Pediatric Nephrology, 8(4), 494-498.
- Aluminium uptake from some foods by guinea pigs and the characterization of aluminium in in vivo intestinal digesta by SEC-ICP-MS. Food and Chemical Toxicology, 32(8), 697-705.
- Increased bone mineral content of preterm infants fed with a nutrient enriched formula after discharge from hospital.. Archives of Disease in Childhood, 68(5 Spec No), 573-578.
- Reference values for radial bone width and mineral content using single photon absorptiometry in healthy children aged 4 to 10 years. Acta Paediatrica, 81(6-7), 463-468.
- Reference values for radial bone width and mineral content using single photon absorptiometry in healthy children aged 4 to 10 years.. Acta paediatrica (Oslo, Norway : 1992), 81(6-7), 463-468.
- Randomised trial of nutrition for preterm infants after discharge.. Archives of Disease in Childhood, 67(3), 324-327.
- Bone growth and mineralisation in children aged 4 to 10 years. Bone and Mineral, 12(1), 57-65.
- Linear growth in the early neonatal period.. Archives of Disease in Childhood, 65(7 Spec No), 707-708.
- Paradoxical bone mineralisation in the twin to twin transfusion syndrome.. Archives of Disease in Childhood, 65(7 Spec No), 705-706.
- Are preterm infants at risk for subsequent fractures?. Archives of Disease in Childhood, 64(10 Spec No), 1384-1385.
- Increased concentration of aluminium in the brain of a parenterally fed preterm infant.. Archives of Disease in Childhood, 64(9), 1316-1317.
- High alkaline phosphatase activity and growth in preterm neonates.. Archives of Disease in Childhood, 64(7 Spec No), 902-909.
- ALUMINIUM IN INFANT FORMULAS. The Lancet, 333(8637), 565-565.
- ALUMINIUM IN INFANT FORMULAS. The Lancet, 333(8636), 490-490.
- Changes in myocardial ischaemia during isosorbide dinitrate or indoramin therapy in patients with stable angina using relations between the ST segment and heart rate. International Journal of Cardiology, 19(3), 341-354.
- ALUMINIUM CONTENT OF MILK FORMULAE AND INTRAVENOUS FLUIDS USED IN INFANTS. The Lancet, 327(8473), 157-157.
- 16 Years of learning: the first patient treated with asfotase alfa for perinatal hypophosphatasia. Endocrine Abstracts.
- Children with hypophosphatasia treated with asfotase alfa: analysis from the UK Patients Cohort. Endocrine Abstracts.
- Monitoring skull base abnormalities in children with osteogenesis imperfecta. Bone Abstracts.
- Dual diagnosis of autism and osteogenesis imperfecta: Case examples to illustrate the implications of dual diagnosis for enhanced outcomes for child and family. Bone Abstracts.
- P4HB recurrent missense mutation causing Cole-Carpenter syndrome: exploring the underlying mechanism. Bone Abstracts, 6. View this article in WRRO
- The elbow in type V osteogenesis imperfecta: is early functional loss related to radiographic findings?. Bone Abstracts.
- Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases. Bone Abstracts, 6(2017). View this article in WRRO
- O16 Maternal Gestational Vitamin D Supplementation Results in Greater Bone Mass for Offspring Born During Winter Months: The Mavidos Multicentre Randomized, Double-Blind, Placebo-Controlled Trial. Rheumatology.
- Clinical management of hypophosphatasia. Clinical Cases in Mineral and Bone Metabolism.
- Type V osteogenesis imperfecta: confirmation of highly characteristic radiographic findings in early infancy. Bone Abstracts.
- Cole-Carpenter syndrome. Bone Abstracts.
- In-depth phenotyping including analyses of skin connective tissue in osteogenesis imperfecta. Bone Abstracts.
- Maternal vitamin D depletion disrupts neonatal skeletal development in mice. Bone Abstracts.
- Maternal vitamin D deficiency alters later skeletal responsiveness to mechanical loading in a model system. Bone Abstracts.
- Leptin is associated with bone microstructural changes in obese children. Endocrine Abstracts.
- Assessing material densities by vibration analysis and independent component analysis. Malaysian Journal of Fundamental and Applied Sciences, 9(3).
Book chapters
- Osteogenesis Imperfecta, Encyclopedia of Endocrine Diseases (pp. 355-365). Elsevier
- Case 112, Diagnosis of Non Accidental Injury Illustrated Clinical Cases (pp. 255-256).
- Case 114, Diagnosis of Non Accidental Injury Illustrated Clinical Cases (pp. 259-260).
- Case 70, Diagnosis of Non Accidental Injury Illustrated Clinical Cases (pp. 159-160).
- Case 10, Diagnosis of Non Accidental Injury Illustrated Clinical Cases (pp. 19-22).
- Bisphosphonates, Osteogenesis Imperfecta (pp. 495-500). Elsevier
- Bisphosphonates, Osteogenesis Imperfecta A Translational Approach to Brittle Bone Disease (pp. 495-500).
- Contributors, Rennie & Roberton's Textbook of Neonatology (pp. ix-xv). Elsevier
- List of Contributors, Pediatric Bone (pp. xi-xiii). Elsevier
- Metabolic Bone Disease in the Neonatal Period and its Later Sequelae, Pediatric Bone Biology and Diseases (pp. 655-677).
- Osteogenesis Imperfecta, Bone and Development (pp. 215-231). Springer London
- Perinatal Vitamin D Actions, Vitamin D (pp. 803-810). Elsevier
- Metabolic Bone Disease of Prematurity, Pediatric Bone Biology Diseases (pp. 567-581).
- Diagnosis of Non-accidental Injury In Palusci VJ, Nazer D & Brennan P (Ed.) CRC Press
- DXA in Adults and Children (pp. 249-263). Wiley
- Juvenile Osteoporosis (pp. 468-472). Wiley
- Looking to the Future of Pediatric Bone Densitometry, Current Clinical Practice (pp. 173-178). Humana Press
Conference proceedings
- Orbit: A Randomized, Double-Blind, Placebo-controlled, Phase 2/3 Study to Assess the Efficacy and Safety of Setrusumab in Pediatric and Young Adult Participants with Osteogenesis Imperfecta. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 38 (pp 325-325)
- Orbit: A Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and a Phase 3, Double-Blind, Placebo-controlled Phase to Assess the Efficacy and Safety of Setrusumab in Subjects with Osteogenesis Imperfecta. HORMONE RESEARCH IN PAEDIATRICS, Vol. 96(SUPPL 2) (pp 67-68)
- Bone turnover in pregnancy, measured by urinary CTX, is influenced by vitamin D supplementation and is associated with maternal bone health: findings from the Maternal Vitamin D Osteoporosis Study (MAVIDOS) trial. The American Journal of Clinical Nutrition, Vol. 114(5) (pp 1600-1611)
- VITAMIN D SUPPLEMENTATION IN PREGNANCY RESULTS IN GREATER OFFSPRING BONE MASS AT 4 YEARS: FINDINGS FROM THE MAVIDOS TRIAL. OSTEOPOROSIS INTERNATIONAL, Vol. 31(SUPPL 1) (pp S50-S50)
- PREGNANCY VITAMIN D SUPPLEMENTATION LEADS TO GREATER OFFSPRING BONE MINERAL DENSITY AT 4 YEARS: THE MAVIDOS RANDOMISED PLACEBO CONTROLLED TRIAL. RHEUMATOLOGY, Vol. 59
- EFFECT OF HIGH DOSE VITAMIN D AND WHOLE BODY VIBRATION ON BONE DENSITY OF THE DISTAL TIBIA AS MEASURED BY HR-PQCT, SERUM 25(OH)D AND PTH. OSTEOPOROSIS INTERNATIONAL, Vol. 31(SUPPL 1) (pp S443-S444)
- Losartan reduces circulating TGFb and CTX and increases vertebral bone mass in the OIM mouse. Bone Abstracts, Vol. 7. Salzburg, Austria, 22 June 2019 - 22 June 2019. View this article in WRRO
- Radiographic evidence of zoledronic acid given during pregnancy - a case report. Bone Abstracts, Vol. 7. Salzburg, Austria, 22 June 2019 - 22 June 2019. View this article in WRRO
- Maternal pregnancy vitamin D supplementation is associated with greater offspring bone mineral density at 4 years: findings from the MAVIDOS trial. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 34 (pp 68-68)
- PLASMA CTX IN PREGNANCY IS ALTERED BY CHOLECALCIFEROL SUPPLEMENTATION AND IS ASSOCIATED WITH MATERNAL BONE INDICES: THE MAVIDOS TRIAL. OSTEOPOROSIS INTERNATIONAL, Vol. 29 (pp S70-S71)
- VITAMIN D SUPPLEMENTATION IN PREGNANCY LEADS TO ALTERED PERINATAL RXRA DNA METHYLATION: FINDINGS FROM THE MAVIDOS TRIAL. OSTEOPOROSIS INTERNATIONAL, Vol. 29 (pp 628-628)
- Natural history of maternal urinary β-C-terminal telopeptide of type I collagen (CTX) in pregnancy, and response to cholecalciferol supplementation: findings from the MAVIDOS trial. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 33 (pp 109-109)
- URINE C-TERMINAL TELOPEPTIDE OF TYPE I COLLAGEN (CTX) IN PREGNANCY IS INFLUENCED BY VITAMIN D SUPPLEMENTATION AND IS ASSOCIATED WITH MATERNAL BONE HEALTH: FINDINGS FROM THE MAVIDOS TRIAL. OSTEOPOROSIS INTERNATIONAL, Vol. 29 (pp 606-606)
- Dynamics of Vitamin D Metabolism in the Maternal-Fetal Dyad in Response to Vitamin D Supplementation. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 33 (pp 356-356)
- Hypophosphatasia: Disease and Treatment. HORMONE RESEARCH IN PAEDIATRICS, Vol. 90 (pp 9-9)
- OSTEOGENESIS IMPERFECTA: PATHOPHYSIOLOGY AND TREATMENT IN CHILDHOOD. RHEUMATOLOGY, Vol. 57
- 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. Bone Abstracts, Vol. 6. Wuzburg, Germany, 10 June 2017 - 10 June 2017. View this article in WRRO
- G70(P) Biochemical bone profiling in children with fractures suspicious of non-accidental injury (NAI). Archives of Disease in Childhood, Vol. 102(Suppl 1) (pp a29-a29). Birmingham, UK, 24 May 2017 - 24 May 2017. View this article in WRRO
- The response to antenatal cholecalciferol supplementation is associated with common vitamin D related genetic variants: findings from the MAVIDOS trial.. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 32 (pp S208-S208)
- Maternal gestational vitamin D supplementation alters perinatal RXRA DNA methylation: findings from the MAVIDOS trial.. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 32 (pp S61-S61)
- DNA METHYLATION AT THE RXRA PROMOTER AT BIRTH IS ASSOCIATED WITH GESTATIONAL VITAMIN D SUPPLEMENTATION: RESULTS FROM THE MAVIDOS TRIAL. OSTEOPOROSIS INTERNATIONAL, Vol. 28 (pp S72-S73)
- 25-HYDROXYVITAMIN D RESPONSE TO GESTATIONAL CHOLECALCIFEROL SUPPLEMENTATION IS ASSOCIATED WITH COMMON VITAMIN D RELATED GENETIC VARIANTS: FINDINGS FROM THE MAVIDOS TRIAL. OSTEOPOROSIS INTERNATIONAL, Vol. 28 (pp S70-S71)
- THE EFFECT OF WHOLE BODY VIBRATION TRAINING ON BONE AND MUSCLE FUNCTION IN CHILDREN WITH OSTEOGENESIS IMPERFECTA. HORMONE RESEARCH IN PAEDIATRICS, Vol. 88 (pp 444-444)
- 25-HYDROXYVITAMIN D RESPONSE TO GESTATIONAL CHOLECALCIFEROL SUPPLEMENTATION IS ASSOCIATED WITH COMMON VITAMIN D RELATED GENETIC VARIANTS: FINDINGS FROM THE MAVIDOS TRIAL. RHEUMATOLOGY, Vol. 56 (pp 153-153)
- PERINATAL DNA METHYLATION AT THE RXRA PROMOTER IS ASSOCIATED WITH GESTATIONAL VITAMIN D SUPPLEMENTATION: RESULTS FROM THE MAVIDOS TRIAL. RHEUMATOLOGY, Vol. 56 (pp 112-112)
- PREDICTORS OF MATERNAL 25(OH)-VITAMIN D RESPONSE TO ANTENATAL VITAMIN D SUPPLEMENTATION: RESULTS FROM THE MAVIDOS TRIAL. OSTEOPOROSIS INTERNATIONAL, Vol. 27 (pp 628-629)
- DETERMINANTS OF THE MATERNAL RESPONSE TO VITAMIN D SUPPLEMENTATION DURING PREGNANCY: THE MAVIDOS TRIAL. OSTEOPOROSIS INTERNATIONAL, Vol. 27 (pp S49-S50)
- MATERNAL GESTATIONAL VITAMIN D SUPPLEMENTATION RESULTS IN GREATER BONE MASS FOR OFFSPRING BORN DURING WINTER MONTHS: THE MAVIDOS MULTICENTRE RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL. RHEUMATOLOGY, Vol. 55 (pp 41-41)
- EFFECTIVENESS OF MATERNAL VITAMIN D SUPPLEMENTATION: A MULTICENTRE RANDOMISED, DOUBLE-BLIND, PLACEBO CONTROLLED TRIAL (MAVIDOS). OSTEOPOROSIS INTERNATIONAL, Vol. 26 (pp S40-S40)
- Correlation analysis of bone vibration frequency and bone mineral density in children. 2014 9th International Symposium on Communication Systems, Networks & Digital Sign (CSNDSP) (pp 188-192), 23 July 2014 - 25 July 2014.
- Direct fracture resistance testing of bone in children using the RPI instrument. Annals of Medicine & Surgery, Vol. 3(2) (pp 49-50)
- G67(P) Variation in response to vitamin D therapy in a series of children referred to a paediatric bone disease service. Archives of Disease in Childhood, Vol. 99(Suppl 1) (pp A29-A29)
- Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia: The 3-Year Experience with Asfotase Alfa.. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 29 (pp S120-S120)
- Assessing bone quality and fracture resistance in children using microindentation. Bone Abstracts, Vol. 2 (pp P86-P86)
- Prolidase deficient mice are osteoporotic in early life. Bone Abstracts, Vol. 2 (pp OC22-OC22)
- Reference point indentation testing detects age-related changes in tissue mechanical properties in mice. Bone Abstracts, Vol. 2 (pp P81-P81)
- Maternal Pregnancy Vitamin D Status and Offspring Bone Health: A Systematic Review and Meta-analysis. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 28
- MATERNAL VITAMIN D STATUS IN PREGNANCY AND OFFSPRING BONE HEALTH: A SYSTEMATIC REVIEW AND META-ANALYSIS. OSTEOPOROSIS INTERNATIONAL, Vol. 24 (pp S33-S33)
- Aluminium exposure from parenteral nutrition in preterm infants and later health outcomes during childhood and adolescence. PROCEEDINGS OF THE NUTRITION SOCIETY, Vol. 70(3) (pp 299-304)
- Life-threatening hypophosphatasia (HPP): Results of up to two years bone-targeted Enzyme Replacement Therapy (ERT) in infants and young children. BONE, Vol. 48 (pp S82-S82)
- Acute bone response to whole body vibration in pre-pubertal boys. BONE, Vol. 48 (pp S270-S270)
- Determinants and associations of fracture in children. BONE, Vol. 48 (pp S58-S58)
- Osteoprotegerin may be a key determinant of low total body and regional bone mass in obese children. BONE, Vol. 45 (pp S71-S71)
- Aluminium exposure from intravenous feeding solutions and later bone health: 15 year follow-up of a randomised trial in preterm infants. BONE, Vol. 45 (pp S97-S98)
- Relationship between COL1A1 Sp1 and COL1A2 PvuII SNPs and fractures in childhood. BONE, Vol. 45 (pp S53-S53)
- OSTEOPOROSIS IN CHILDREN. OSTEOPOROSIS INTERNATIONAL, Vol. 20 (pp S257-S257)
- The Relationship of Urinary Excretion of C-Telopeptides to Growth in Children. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 23 (pp S110-S110)
- Fat children, thin bones. BONE, Vol. 42 (pp S48-S49)
- Therapy of paediatric bone conditions. BONE, Vol. 42 (pp S68-S68)
- RANKL mutations are responsible for the defective osteoclast formation seen in six patients with osteoclast-poor osteopetrosis. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 22(7) (pp 1111-1112)
- Steroid-induced osteoporosis in children. BONE, Vol. 40(6) (pp S9-S9)
- Changes in body composition following 3 years of pamidronate therapy in osteogenesis imperfecta. BONE, Vol. 40(6) (pp S39-S40)
- Children with recurrent fractures and low bone mass or idiopathic juvenile osteoporosis may have abnormalities in the canonical Wnt-signalling pathway through LRP5. BONE, Vol. 40(6) (pp S71-S72)
- Genetic polymorphisms and fracture risk in children. BONE, Vol. 40(6) (pp S28-S29)
- Bone mass and architecture in children with and without fractures. BONE, Vol. 40(6) (pp S32-S33)
- Cerebroretinal microangiopathy with calcification and cysts (CRMCC). JOURNAL OF MEDICAL GENETICS, Vol. 44 (pp S49-S49)
- Identification of novel mutations in rankl as a cause of osteoclast-poor osteopetrosis. CALCIFIED TISSUE INT, Vol. 80 (pp S35-S35)
- The peroxisome proliferator activator receptor Alpha/Delta (PPARa/d) agonists linoleic acid and bezafibrate upregulate osteoblast differentiation and induce periosteal bone formation in vivo.. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 21 (pp S204-S204)
- The association between bone mass and fractures in childhood: A prospective cohort study.. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 21 (pp S19-S19)
- Skeletal fragility is an important determinant of fracture risk in children, even in the presence of significant trauma.. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 21 (pp S30-S30)
- Activation of peroxisome proliferator activated receptor delta (PPARdelta) increases periosteal bone formation. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 21(7) (pp 1152-1152)
- Failure of a successful bone marrow transplant to rescue osteoclast deficient autosomal recessive osteopetrosis. BONE, Vol. 36 (pp S226-S226)
- Chimeraplasty for gene repair in carnitine palmitoyl transferase II deficiency. BONE, Vol. 36 (pp S28-S28)
- Phalangeal ultrasound and fracture risk in childhood. BONE, Vol. 36 (pp S100-S100)
- A paediatric lumbar spine phantom for inter-site and inter-machine cross-calibration. BONE, Vol. 36 (pp S44-S44)
- Pamidronate for infants with osteogenesis imperfecta; comparison of different doses. BONE, Vol. 36 (pp S82-S82)
- Observations on cell fusion in RAW264.7 cells stimulated with RANK ligand using time lapse videomicroscopy and expression microarrays. BONE, Vol. 36 (pp S25-S26)
- Development of a specific assessment tool for children with osteogenesis imperfecta. BONE, Vol. 36 (pp S51-S51)
- Mutation analysis of COL1A1 and COL1A2 in a cohort of patients with osteogenesis imperfecta type I-IV. JOURNAL OF MEDICAL GENETICS, Vol. 42 (pp S91-S91)
- Risedronate pharmacokinetics in children with osteogenesis imperfecta. BONE, Vol. 36 (pp S223-S224)
- Risedronate pharmacokinetics in children with osteogenesis imperfecta. BONE, Vol. 36 (pp S82-S82)
- Pediatric spine phantom for use in DXA pediatric bone studies. OSTEOPOROSIS INTERNATIONAL, Vol. 15 (pp S21-S21)
- COL3A1: An unsuitable comparator for measuring collagen mRNA expression levels in bone of patients with osteogenesis imperfecta. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 19(6) (pp 1039-1039)
- Further examples of Coats' plus; expanding the phenotype. JOURNAL OF MEDICAL GENETICS, Vol. 41 (pp S43-S43)
- Matrix metalloproteinase inhibition does not recapitulate the action of chemically modified tetracyclines on osteoclast lineage cells. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 18(7) (pp 1359-1359)
- Growing bones - A famework for the future. PEDIATRIC RESEARCH, Vol. 53(6) (pp 5A-5A)
- Osteoporosis in children with rheumatic disease. ANNALS OF THE RHEUMATIC DISEASES, Vol. 62 (pp 14-14)
- Children and the risk of fractures due to oral corticosteroids.. JOURNAL OF BONE AND MINERAL RESEARCH, Vol. 17 (pp S171-S171)
- Heterogeneity of RANK-L expression in bone marrow of patients with acute lymphoblastic leukaemia. BONE, Vol. 30(3) (pp 29S-29S)
- Failure of osteoclast induction from peripheral blood in a child with osteopetrosis. BONE, Vol. 30(3) (pp 16S-16S)
- Inhibition of osteoclast and CFU-f development in culture with chemically modified tetracyclines. BONE, Vol. 30(3) (pp 18S-18S)
- A diagnostic assay for COL1A1 expression levels in Osteogenesis Imperfecta patients.. JOURNAL OF MEDICAL GENETICS, Vol. 39 (pp S81-S81)
- Perinatal metabolism of vitamin D. AMERICAN JOURNAL OF CLINICAL NUTRITION, Vol. 71(5) (pp 1317S-1324S)
- Skeletal growth and development in infants born preterm: Effect of early diet. Monatsschrift Fur Kinderheilkunde, Vol. 143(7 SUPPL. 2) (pp S91-S94)
- Aluminium in infant feeding: Is it a problem?. European Journal of Clinical Nutrition, Vol. 46(SUPPL. 4) (pp S37-S39)
- Bone growth and mineralisation in preterm infants. Pediatric Reviews and Communications, Vol. 6(3) (pp 181-183)
- Impact of type 1 diabetes mellitus on skeletal integrity and strength in adolescents aged 12 to 16 years; as assessed by High Resolution peripheral Quantitative Computed Tomography (HRpQCT). Bone Abstracts
- Developing a human-mouse hybrid model of osteogenesis imperfecta for investigating new therapies for children. Bone Abstracts
- NBAS variants causing a novel form of inherited bone fragility. Bone Abstracts, Vol. 6(2017). Bristol, UK, 10 June 2017 - 10 June 2017. View this article in WRRO
- Increase in lean mass may augment gains in bone mass and size in patients with osteogenesis imperfecta treated with bisphosphonates. Endocrine Abstracts
Preprints
- Children's emergency presentations during the COVID-19 pandemic. The Lancet Child & Adolescent Health, 4(8), e32-e33.