Browsing by Author Savarirayan, Ravi

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Issue DateTitleAuthor(s)Citation
2007Bulldog dwarfism in Dexter cattle is caused by mutations in ACANCavanagh, Julie; Nicholas, Frank; Raadsma, Hermanus; Tammen, Imke; Windsor, Peter; Bateman, John F; Savarirayan, Ravi; Vet Science Faculty; Vet Science Faculty; REPROGEN; Vet Science Faculty; Vet Science FacultyBulldog dwarfism in Dexter cattle is caused by mutations in ACAN, Mammalian genome, vol.18,(11),2007,pp 808-814
2010Candidate gene study to investigate the genetic determinants of normal variation in central corneal thicknessHealey, Paul; Mitchell, Paul; Burdon, Kathryn P; Craig, Jamie; Dimasi, David P; Hewitt, Alex; Mackey, David; Savarirayan, Ravi; Western Clinical School: Clinical Ophthal & Eye Health; Western Clinical School: Westmead Institute for Medical ResCandidate gene study to investigate the genetic determinants of normal variation in central corneal thickness, Molecular Vision, vol.16, N/A, 2010,pp 562-569
2012Development in children with achondroplasia: a prospective clinical cohort studySillence, David; Ault, Jenny E.; Donaghey, Samantha; Ireland, Penelope; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, Elizabeth; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthDevelopment in children with achondroplasia: a prospective clinical cohort study, Developmental Medicine and Child Neurology, vol.54, 6, 2012,pp 532`-537
2013The effect of height, weight and head circumference on gross motor development in achondroplasiaSillence, David; Ault, Jenny; Donaghey, Samantha; Ireland, Penelope; Johnston, Leanne M; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, E. M.; Townshend, Sharron; Ware, Robert; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthThe effect of height, weight and head circumference on gross motor development in achondroplasia, Journal of Paediatrics and Child Health, vol.49, 2, 2013,pp E122-E127
2011Functional performance in young Australian children with achondroplasiaSillence, David; Ault, Jenny E.; Ireland, Penelope Jane; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, E. M.; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthFunctional performance in young Australian children with achondroplasia, Developmental Medicine and Child Neurology, vol.53, 10, 2011,pp 944-950
2006Isolated and Syndromic Syngnathism: Management, Implications, and GeneticsLiem, Nguyen; Meara, John; Savarirayan, Ravi; Tomlinson, Jillian; Central Clinical School: MedicineIsolated and Syndromic Syngnathism: Management, Implications, and Genetics, Annals of Plastic Surgery, vol.57, 2,pp 231-235
2011Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringBennetts, Bruce; Jamieson, Robyn; Storen, Rebecca; Savarirayan, Ravi; Stark, Zornitza; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye HealthIsolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring, European Journal of Human Genetics, vol.19, 72, 2011,pp 753-756
2012Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 yearsSillence, David; Ault, Jenny E.; Donaghey, Samantha; Ireland, Penelope Jane; Johnson, Sarah; Johnston, Leanne Marie; McGill, James; Pacey, Verity; Savarirayan, Ravi; Thompson, Elizabeth M.; Townshend, Sharron; Ware, Robert S; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child HealthMedical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years, Journal of Paediatrics and Child Health, vol.48, 5, 2012,pp 443-449
2011Mutations in TRPV4 cause an inherited arthropathy of hands and feetLittle, Christopher; Amor, David; Bateman, John; Belluoccio, Daniele; Botzenhart, Elke; Cole, William; Gresshoff, Irma; Kaluarachchi, Kumara; Lamande, Shireen R.; McIntyre, Peter; Rowley, Lynn; Savarirayan, Ravi; Yuan, Yuan; Zerres, Klaus; Northern Clinical School: Kolling InstituteMutations in TRPV4 cause an inherited arthropathy of hands and feet, Nature Genetics, vol.43, 11, 2011,pp 1142-1146
2010The natural history and osteodystrophy of mucolipidosis types II and IIIMunns, Craig; Sillence, David; Alcausin, Melanie; Ault, Jenny E.; Briody, Julie N.; Cathey, Sara; David-Vizcarra, Grace; Edwards, Matthew J.; Fietz, M.; Fletcher, Janice; McGill, Jim; Savarirayan, Ravi; Wilson, Meredith J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe natural history and osteodystrophy of mucolipidosis types II and III, Journal of Paediatrics and Child Health, vol.46, 6, 2010,pp 316-322
2015Nosology and classification of genetic skeletal disorders: 2015 revisionSillence, David; Bonafe, Luisa; Cormier-Daire, Valerie; et al, Various; Hall, Christine; Lachman, Ralph; Mortier, Geert; Mundlos, Stefan; Nishimura, Gen; Sangiorgi, Luca; Savarirayan, Ravi; Childrens Hospital Westmead: Paediatrics & Child HealthNosology and classification of genetic skeletal disorders: 2015 revision, American Journal of Medical Genetics. Part A, vol.167, 12, 2015,pp 2869-2892
2010Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.Healey, Paul; Mitchell, Paul (Ronald); Burdon, Kathryn P; Chen, Jern; Craig, Jamie E.; Davey, Richard; Dimasi, David P; Forbes, Robin; Hewitt, Alex W.; Klebe, Sonja; Mackey, David A.; Savarirayan, Ravi; Stirling, John; Tan, T; Thompson, Elizabeth; Western Clinical School: Clinical Ophthal & Eye Health; Western Clinical School: Westmead Millennium InstituteNovel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes., Human Genetics, vol.127, 1,pp 33-44
2014Optimal management of complications associated with achondroplasiaZankl, Andreas; Edwards, Priya; Ireland, Penelope Jane; Johnston, Leanne Marie; Pacey, Verity; Savarirayan, Ravi; Childrens Hospital Westmead: Paediatrics & Child HealthOptimal management of complications associated with achondroplasia, The Application of Clinical Genetics, vol.7, N/A, 2014,pp 117-125
2004Primary Trabeculodysgenesis In Association With Neonatal Marfan Syndrome.Ades, Lesley; Anwar, Samira; Elder, James E.; Gole, Glen A.; Savarirayan, Ravi; Whitelaw, Charlotte M.; Children's Hospital Westmead: Paediatrics & Child HealthPrimary Trabeculodysgenesis In Association With Neonatal Marfan Syndrome., American journal of medical genetics Part A, vol.128A,(4),2004,pp 418-421
2011TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesAlcausin, Melanie; Sillence, David; Aftimos, Salim; Andreucci, Elena; Haan, Eric; Hunter, Warwick; Kannu, Peter; Kerr, Bronwyn; Lamande, Shireen R.; McGillivray, G; McKinlay Gardner, R J; Patricelli, Maria; Savarirayan, Ravi; Thompson, Elizabeth M.; Zacharin, Margaret R.; Zankl, Andreas; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families, Orphanet Journal of Rare Diseases, vol.6, 1, 2011,pp Article number 37-1-Article number 37-8