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2016 Journal Article Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidenceJefferson, Amanda, Leonard, Helen, Siafarikas, Aris, Woodhead, Helen, Fyfe, Sue, Ward, Leanne M., Munns, Craig, Motil, Kathleen, Tarquinio, Daniel, Shapiro, Jay R., Brismar, Torkel, Ben-Zeev, Bruria, Bisgaard, Anne-Marie, Coppola, Giangennaro, Ellaway, Carolyn, Freilinger, Michael, Geerts, Suzanne, Humphreys, Peter, Jones, Mary, Lane, Jane, Larsson, Gunilla, Lotan, Meir, Percy, Alan, Pineda, Mercedes, Skinner, Steven, Syhler, Birgit, Thompson, Sue, Weiss, Batia, Engerström, Ingegerd Witt and Downs, Jenny (2016). Clinical guidelines for management of bone health in rett syndrome based on expert consensus and available evidence. PLoS One, 11 (2) e0146824, e0146824. doi: 10.1371/journal.pone.0146824 |
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2016 Journal Article Global consensus recommendations on prevention and management of nutritional ricketsMunns, Craig F., Shaw, Nick, Kiely, Mairead, Specker, Bonny L., Thacher, Tom D., Ozono, Keiichi, Michigami, Toshimi, Tiosano, Dov, Mughal, M. Zulf, Mäkitie, Outi, Ramos-Abad, Lorna, Ward, Leanne, Dimeglio, Linda A., Atapattu, Navoda, Cassinelli, Hamilton, Braegger, Christian, Pettifor, John M., Seth, Anju, Idris, Hafsatu Wasagu, Bhatia, Vijayalakshmi, Fu, Junfen, Goldberg, Gail, Sävendahl, Lars, Khadgawat, Rajesh, Pludowski, Pawel, Maddock, Jane, Hyppönen, Elina, Oduwole, Abiola, Frew, Emma ... Högler, Wolfgang (2016). Global consensus recommendations on prevention and management of nutritional rickets. Hormone Research in Paediatrics, 85 (2), 83-106. doi: 10.1159/000443136 |
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2016 Journal Article Global consensus recommendations on prevention and management of nutrition ricketsMunns, C., Shaw, N., Kiely, M., Specker, B., Thacher, T., Ozono, K., Michigaml, T., Tiosano, D., Mughal, M., Makitie, O., Ramos-Abad, L., Ward, L., DiMeglio, L., Atapattu, N., Caassinelli, H., Braeger, C., Pettifor, G., Seth, A., Idris, H., Bhatia, V., Fu, Jm, Goldberg, G., Savendahl, L., Khadgawat, R., Pludowskl, P., Maddock, J., Hypponen, E., Oduwole, A., Frew, E. ... Hogler, W. (2016). Global consensus recommendations on prevention and management of nutrition rickets. Pediatriya, 56 (1), 60-63. |
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2016 Journal Article Hospital admission patterns in children with CAH: Admission rates and adrenal crises decline with ageLouise Rushworth, R., Falhammar, Henrik, Munns, Craig F., Maguire, Ann M. and Torpy, David J. (2016). Hospital admission patterns in children with CAH: Admission rates and adrenal crises decline with age. International Journal of Endocrinology, 2016 5748264. doi: 10.1155/2016/5748264 |
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2016 Journal Article The immune phenotype of patients with CHARGE syndromeHsu, Peter, Ma, Alan, Barnes, Elizabeth H., Wilson, Meredith, Hoefsloot, Lies H., Rinne, Tuula, Munns, Craig, Williams, George, Wong, Melanie and Mehr, Sam (2016). The immune phenotype of patients with CHARGE syndrome. Journal of Allergy and Clinical Immunology: In Practice, 4 (1), 96-103.e2. doi: 10.1016/j.jaip.2015.09.004 |
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2015 Journal Article Erratum: Vitamin D supplementation and the effects on glucose metabolism during Pregnancy: A randomized controlled trial. (Diabetes care (2014) 37 (1837-1844))Yap, Constance, Cheung, N. Wah, Gunton, Jenny E., Athayde, Neil, Munns, Craig F., Duke, Anna and Mclean, Mark (2015). Erratum: Vitamin D supplementation and the effects on glucose metabolism during Pregnancy: A randomized controlled trial. (Diabetes care (2014) 37 (1837-1844)). Diabetes Care, 38 (10). doi: 10.2337/dc15-er10 |
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2015 Journal Article Quality of life prediction in children with joint hypermobility syndromePacey, Verity, Tofts, Louise, Adams, Roger D., Munns, Craig F. and Nicholson, Leslie L. (2015). Quality of life prediction in children with joint hypermobility syndrome. Journal of Paediatrics and Child Health, 51 (7), 689-695. doi: 10.1111/jpc.12826 |
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2015 Journal Article Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defectsMunns, Craig F., Fahiminiya, Somayyeh, Poudel, Nabin, Munteanu, Maria Cristina, Majewski, Jacek, Sillence, David O., Metcalf, Jordan P., Biggin, Andrew, Glorieux, Francis, Fassier, François, Rauch, Frank and Hinsdale, Myron E. (2015). Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. American Journal of Human Genetics, 96 (6), 971-978. doi: 10.1016/j.ajhg.2015.04.017 |
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2015 Journal Article Diagnosis and Management of Osteoporosis in ChildrenTitmuss, Angela T., Biggin, Andrew, Korula, Sophy and Munns, Craig F (2015). Diagnosis and Management of Osteoporosis in Children. Current Pediatrics Reports, 3 (2), 187-199. doi: 10.1007/s40124-015-0082-z |
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2015 Journal Article Cystic fibrosis-related bone disease in children: Examination of peripheral quantitative computed tomography (pQCT) dataBrookes, Denise S. K., Briody, Julie N., Munns, Craig F., Davies, Peter S. W. and Hill, Rebecca J. (2015). Cystic fibrosis-related bone disease in children: Examination of peripheral quantitative computed tomography (pQCT) data. Journal of Cystic Fibrosis, 14 (5) 1230, 668-677. doi: 10.1016/j.jcf.2015.04.005 |
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2015 Journal Article The long-term effects of switching from active intravenous bisphosphonate treatment to low-dose maintenance therapy in children with osteogenesis imperfectaBiggin, Andrew, Zheng, Linda, Briody, Julie N., Coorey, Craig P. and Munns, Craig F. (2015). The long-term effects of switching from active intravenous bisphosphonate treatment to low-dose maintenance therapy in children with osteogenesis imperfecta. Hormone Research in Paediatrics, 83 (3), 183-189. doi: 10.1159/000369582 |
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2015 Journal Article Joint hypermobility syndrome subclassification in paediatrics: A factor analytic approachPacey, V., Adams, R. D., Tofts, L., Munns, C. and Nicholson, L. (2015). Joint hypermobility syndrome subclassification in paediatrics: A factor analytic approach. Child: Care, Health and Development, 41 (2), 335-336. doi: 10.1111/CCH.12229_3 |
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2015 Journal Article Cystic fibrosis-related bone disease explored using a four step algorithmBrookes, D.S.K., Briody, J.N., Munns, C.F., Davies, P.S.W. and Hill, R.J. (2015). Cystic fibrosis-related bone disease explored using a four step algorithm. Journal of Cystic Fibrosis, 14 (1), 127-134. doi: 10.1016/j.jcf.2014.07.011 |
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2015 Journal Article A Practical Approach to Children with Recurrent FracturesKorula, Sophy, Titmuss, Angela T., Biggin, Andrew and Munns, Craig F. (2015). A Practical Approach to Children with Recurrent Fractures. Endocrine Development, 28, 210-225. doi: 10.1159/000381047 |
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2015 Journal Article Joint hypermobility syndrome subclassification in paediatrics: A factor analytic approachPacey, Verity, Adams, Roger D., Tofts, Louise, Munns, Craig F. and Nicholson, Leslie L. (2015). Joint hypermobility syndrome subclassification in paediatrics: A factor analytic approach. Archives of Disease in Childhood, 100 (1), 8-13. doi: 10.1136/archdischild-2013-305304 |
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2014 Journal Article Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosisDasgupta, Debayan, Wee, Mark J., Reyes, Monica, Li, Yuwen, Simm, Peter J., Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H. Jorge, Levine, Michael A., Tiosano, Dov, Insogna, Karl, Hanley, David A., Carpenter, Thomas O., Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Sävendahl, Lars, Munns, Craig F., Lee, Hang, Jüppner, Harald and Bergwitz, Clemens (2014). Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. Journal of the American Society of Nephrology, 25 (10), 2366-2375. doi: 10.1681/ASN.2013101085 |
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2014 Journal Article Proprioceptive acuity into knee hypermobile range in children with Joint Hypermobility SyndromePacey, Verity, Adams, Roger D., Tofts, Louise, Munns, Craig F. and Nicholson, Leslie L. (2014). Proprioceptive acuity into knee hypermobile range in children with Joint Hypermobility Syndrome. Pediatric Rheumatology, 12 (1) 40, 1-7. doi: 10.1186/1546-0096-12-40 |
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2014 Journal Article The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VLazarus, Syndia, McInerney-Leo, Aideen M., McKenzie, Fiona A., Baynam, Gareth, Broley, Stephanie, Cavan, Barbra V., Munns, Craig F., Pruijs, Johannes Egbertus Hans, Sillence, David, Terhal, Paulien A., Pryce, Karena, Brown, Matthew A., Zankl, Andreas, Thomas, Gethin and Duncan, Emma L. (2014). The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders, 15 (107) 107, 1-6. doi: 10.1186/1471-2474-15-107 |
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2014 Journal Article The use of bisphosphonates in children: Review of the literature and guidelines for dental managementBhatt, Reena, Hibbert, S. A. and Munns, C. F. (2014). The use of bisphosphonates in children: Review of the literature and guidelines for dental management. Australian Dental Journal, 59 (1), 9-19. doi: 10.1111/adj.12140 |
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2014 Journal Article Approach to the diagnosis of congenital myopathiesNorth, Kathryn N., Wang, Ching H., Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J., Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H., Sewry, Caroline, Laing, Nigel G., Bönnemann, Carsten G., Aloysius, Annie, Apkon, Susan, Bellini, Jonathan, Bertini, Enrico, Biancalana, Valerie, Birnkrant, David, Bushby, Kate, Connolly, Anne M., Estournet-Mathiaud, Brigitte, Ferreiro, Ana, Fitzgerald, Dominic, Florence, Julaine M., Richard Gee, P. T., Giannetti, Juliana G., Glanzman, Allan, Goebel, Hans, Guillet, Marc ... Yuan, Nanci (2014). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24 (2), 97-116. doi: 10.1016/j.nmd.2013.11.003 |
