Browsing by Author Darmanian, Artur

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Issue DateTitleAuthor(s)Citation
201314q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotypeChristodoulou, John; Collins, Felicity; Ellaway, Carolyn; Ho, Gladys; Peters, Gregory; Bettella, Elise; Darmanian, Artur; Fagan, Kerry; Hackett, A; Knapman, Alisa; McKenzie, Fiona; 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 Health; Children's Hospital Westmead: Paediatrics & Child Health14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype, European Journal of Human Genetics, vol.21, 5, 2013,pp 522-527
2010Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related DisordersBennetts, Bruce; Christodoulou, John; Cloosterman, Desiree; Ellaway, Carolyn; Ho, Gladys; White, Rose; Bienvenu, Thierry; Cox, Timothy; Darmanian, Artur; Fischer, Alexandra; Fullston, Tod; Gecz, Jozef; Kalra, Veena; Nectoux, Juliette; Scheffer, Ingrid; Schmidt, Swetlana; Tong, Xing Zhang; Yendle, Simone; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Biological Sciences; Central Clinical School: OfficeCyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders, Twin Research and Human Genetics, vol.13, 2,pp 168-178
2004Issues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism.Ades, Lesley; Daniel, Art; Darmanian, Artur; Kennedy, Craig; Malafiej, Paul; Peters, Gregory; Tembe, Varsha; Wu, Zhanhe; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Western Clinical School: Obstetrics & Gynaecology; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Western Clinical School: Obstetrics & GynaecologyIssues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism., Prenatal diagnosis, vol.24,(7),2004,pp 524-536
2001Mutations in the INK4a/ARF Melanoma Susceptibility locus functionally impair p14ARFDarmanian, Artur; Kefford, Richard (Rick); Mann, Graham; Rizos, Helen; Holland, Elizabeth A.; Medicine; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium Institute; Western Clinical School: Westmead Millennium InstituteMutations in the INK4a/ARF Melanoma Susceptibility locus functionally impair p14ARF, Journal of Biological Chemistry, vol.276,(44),2001,pp 41424-41434
2009Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromePeters, Gregory; Widmer, Richard; Aftimos, Salim; Darmanian, Artur; et al, various; Ghedia, S; Kirk, E. P. E.; Love, Donald; Ronan, A; Susman, Rachel D.; Tan, T; Wilson, Meredith J.; Worgan, L; Children's Hospital Westmead: Paediatrics & Child Health; Dentistry FacultyPhenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome, Journal of Medical Genetics, vol.46, 7,pp 480-489
2016Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome AbnormalitiesWright, Dale; Battersby, Siobhan; Carey, Louise; Clarke, Melanie; Cross, Jill; Darmanian, Artur; Gulesserian, Elee; Nash, Benjamin; Nguyen, Thuy; Childrens Hospital Westmead: Paediatrics & Child HealthValidation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities, Genetic Testing and Molecular Biomarkers, vol.20, 12, 2016,pp 791-798