Dr Kristi Jones

Clinical Senior Lecturer
Genetic Medicine, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 3880
F: +61 2 9845 3214
E: Send message

Publications

2012 | 2011 | 2010 | 2009 | 2008

2012

   
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., Harbord, M., North, K., Clarke, N. (2012), Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology. 78(16), 1258-1263. [Abstract]

2011

   
  • Rohrbach, M., Vandersteen, A., Yiş, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., Marcelis, C., Baumgartner, M., Giunta, C. (2011), Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet Journal of Rare Diseases. 6, 46. [Abstract]

2010

   
  • Mehr, S., Jones, K., Singh-Grewal, D., Aksentijevich, I., Kakakios, A. (2010), Chronic urticaria of neonatal onset: A potential sign of autoinflammation. Journal of paediatrics and child health. 46(10), 608-10. [Abstract]
  • Hoornaert, K., Vereecke, I., Dewinter, C., Rosenberg, T., Beemer, F., Leroy, J., Bendix, L., Bjorck, E., Bonduelle, M., Boute, O., Cormier-Daire, V., De Die-Smulders, C., Dieux-Coeslier, A., Dollfus, H., Elting, M., Green, A., Guerci, V., Hennekam, R., Hilhorts-Hofstee, Y., Holder, M., Hoyng, C., Jones, K., Josifova, D., Kaitila, I., Kjaergaard, S., Kroes, Y., Lagerstedt, K., Lees, M., LeMerrer, M., Magnani, C., Marcelis, C., Martorell, L., Mathieu, M., McEntagart, M., Mendicino, A., Morton, J., Orazio, G., Paquis, V., Reish, O., Simola, K., Smithson, S., Temple, K., Van Aken, E., Van Bever, Y., van den Ende, J., Van Hagen, J., Zelante, L., Zordania, R., De Paepe, A., Leroy, B., De Buyzere, M., Coucke, P., Mortier, G. (2010), Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. European Journal of Human Genetics. 18(8), 872-880. [Abstract]

2009

   
  • D'Haene, B., Attanasio, C., Beysen, D., Dostie, J., Lemire, E., Bouchard, P., Field, M., Jones, K., Lorenz, B., Menten, B., Buysse, K., Pattyn, F., Friedli, M., Ucla, C., Rossier, C., Wyss, C., Speleman, F., De Paepe, A., Dekker, J., Antonarakis, S., De Baere, E. (2009), Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening. Plos Genetics. 5(6), 13. [Abstract]

2008

   
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., Froehner, S., North, K. (2008), Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American journal of human genetics. 83(6), 714-24. [Abstract]