Browsing by Author Jones, Kristi

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Issue DateTitleAuthor(s)Citation
2014Ataluren treatment of patients with nonsense mutation dystrophinopathyJones, Kristi; Barohn, Richard; Bushby, Kate; Campbell, Craig; Comi, Giacomo; Connolly, Anne; Day, John; et al, Various; Finkel, Richard; Flanigan, Kevin; Goemans, Nathalie; Wong, Brenda; Childrens Hospital Westmead: Paediatrics & Child HealthAtaluren treatment of patients with nonsense mutation dystrophinopathy, Muscle and Nerve, vol.50, 4, 2014,pp 477-487
2015Can daytime measures of lung function predict respiratory failure in children with neuromuscular disease?Fitzgerald, Dominic; Jones, Kristi; Pandit, Chetan; Waters, Karen; Young, Helen Kathryn; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCan daytime measures of lung function predict respiratory failure in children with neuromuscular disease?, Paediatric Respiratory Reviews, vol.16, 4, 2015,pp 241-245
2003Congenital Muscular DystrophiesJones, Kristi; North, Kathryn; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCongenital Muscular Dystrophies in Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, Butterworth Heinemann, 2003, pp. 633-647
2018Congenital titinopathy: Comprehensive characterisation and pathogenic insightsBournazos, Adam; Charlton, Amanda; Clarke, Nigel; Cooper, Sandra; Fitzsimons, Robin; Ghaoui, Roula; Jones, Kristi; Oates, Emily; O'Grady, Gina Louise; Peduto, Anthony; Sandaradura, Sarah; Waddell, Leigh Brook; Brammah, Susan; Donkervoort, Sandra; et al, Various; Farrar, Michelle A.; Sampaio, Hugo; Smith III, John; Swanson, Lindsay; Ware, James; Whiffin, Nicola; Yau, Kyle; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Imaging; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCongenital titinopathy: Comprehensive characterisation and pathogenic insights, Annals of Neurology, vol.83, 6, 2018,pp 1106-1124
2003Defiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathyCompton, A; Jones, Kristi; North, Kathryn; Froehner, Stanley C; Kunkel, L M; Mills, M A; Mowat, D; Peters, M F; Yang, Nan; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDefiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy, Neuromuscular Disorders, vol.13,(N/A),2003,pp 456-467
2004A Girl With Duplication 17p10-p12 Associated With A Dicentric Chromosome.Christodoulou, John; Jones, Kristi; Lupski, James; Shaw, Christine J; Smith, Ellie; Stankiewicz, Pawel; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA Girl With Duplication 17p10-p12 Associated With A Dicentric Chromosome., American journal of medical genetics Part A, vol.124A,(2),2004,pp 173-178
2012Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyClarke, Nigel; Cooper, Sandra; Evesson, Frances; Jones, Kristi; Menezes, Manoj; North, Kathryn; Waddell, Leigh; Corbett, Alastair; Harbord, M; Johnston, H; Kiernan, Matthew; Mowat, D; Webster, Richard; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthImportance and challenge of making an early diagnosis in LMNA-related muscular dystrophy, Neurology, vol.78, 16, 2012,pp 1258-1263
2006Neonatal severe hyperparathyroidism: An important clue to the aetiologyCowell, Christopher; Jones, Kristi; Sillence, David; Gabbett, Michael Terrence; Wilson, Meredith; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthNeonatal severe hyperparathyroidism: An important clue to the aetiology, Journal of Paediatrics and Child Health, vol.42,(12),2006,pp 813-816
2011Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationChopra, Maya; Jones, Kristi; Ataman, Esra; Baumgartner, Matthias; Garcia, Sixto; Giunta, Cecilia; Kariminejad, Ariana; Kraenzlin, Marius; Marcelis, Carlo; Rohrbach, M; Serdaroglu, Gul; Vandersteen, A; Yiş, Uluç; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthPhenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation, Orphanet Journal of Rare Diseases, vol.6, N/A, 2011,pp Article 46 - 1-Article 46 - 9
2010Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsJones, Kristi; Beemer, Frits; Bendix, Laila; Bjork, Erik; Bonduelle,, M; Boute, Odile; Dewinter, Chantal; et al, various; Hoornaert, Kristien; Leroy, Jules G.; Rosenberg, Thomas; Vereecke, Inge; Children's Hospital Westmead: Paediatrics & Child HealthStickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients, European Journal of Human Genetics, vol.18, 8,pp 872-880
2015Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedClarke, Nigel; Cooper, Sandra; Corbett, Alastair; Ghaoui, Roula; Jones, Kristi; Kaur, Simranpreet; Nicholson, Garth; O'Grady, Gina Louise; Sue, Carolyn; Waddell, Leigh Brook; Davis, Mark; Laing, Nigel; Lek, Monkol; Liang, Christina; MacArthur, Daniel; Needham, Merrilee; North, Kathryn; Ong, Royston; Reddel, Stephen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthUse of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned, JAMA Neurology, vol.72, 12, 2015,pp 1424-1432
2007Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy familiesJones, Kristi; North, Kathryn; Peat, Rachel; Baker, Naomi L.; Lamande, Shireen R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: MedicineVariable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families, Neuromuscular Disorders, vol.17,(7),2007,pp 547-557