Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification

Autor: JE Craig, RA Barnetson, J Prior, JL Raven, SL Thein

Publikováno v: Blood. 83(6)

A considerable number of deletions of variable size and position that involve the beta-globin gene complex on chromosome 11 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia. Spe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::414af3ea3d227e5bc2b12bd6b29848c9
https://pubmed.ncbi.nlm.nih.gov/7510147

Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin

Autor: Je, Craig, Rochette J, Sampietro M, Ao, Wilkie, Barnetson R, Cs, Hatton, Florence Demenais, Sl, Thein

Publikováno v: Europe PubMed Central

A large English pedigree in which heterocellular hereditary persistence of fetal hemoglobin (HPFH) segregates is described. beta-globin cluster deletions and gamma gene promoter mutations associated with HPFH have been excluded. Of particular importa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8c73c2a8085c59bc2182faa985d996c2
http://europepmc.org/abstract/med/9207480

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma

Autor: Tk, Young, Souzeau E, Liu L, Lisa Kearns, Kp, Burdon, Je, Craig, Jb, Ruddle

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::21d1d1495f45514849cddac39196761e
http://europepmc.org/abstract/med/23304066

Vision loss and diabetic retinopathy prevalence and risk among a cohort of Indigenous and non-Indigenous Australians with type 2 diabetes receiving renal haemodialysis treatment: The retinopathy in people currently on renal dialysis (RiPCORD) study.

Autor: Estevez JJ; Caring Futures Institute, College of Nursing and Health Sciences, Optometry and Vision Science, Flinders University, Adelaide, Australia; Flinders Centre for Ophthalmology, Eye and Vision Research, Department of Ophthalmology, Flinders University, Adelaide, Australia; Wardliparingga Aboriginal Health Equity Theme, South Australia Health and Medical Research Institute, Adelaide, Australia. Electronic address: jose.estevez@flinders.edu.au., Liu E; Flinders Centre for Ophthalmology, Eye and Vision Research, Department of Ophthalmology, Flinders University, Adelaide, Australia., Patel C; Flinders Centre for Ophthalmology, Eye and Vision Research, Department of Ophthalmology, Flinders University, Adelaide, Australia., Roulston T; Flinders Centre for Ophthalmology, Eye and Vision Research, Department of Ophthalmology, Flinders University, Adelaide, Australia; Alice Springs Hospital, Ophthalmology Department, Alice Springs, Northern Territory, Australia., Howard NJ; Wardliparingga Aboriginal Health Equity Theme, South Australia Health and Medical Research Institute, Adelaide, Australia; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia., Lake S; Flinders Centre for Ophthalmology, Eye and Vision Research, Department of Ophthalmology, Flinders University, Adelaide, Australia., Henderson T; Alice Springs Hospital, Ophthalmology Department, Alice Springs, Northern Territory, Australia., Gleadle J; Department of Renal Medicine, Flinders Medical Centre, College of Medicine and Public Health, Flinders University, Adelaide, Australia., Maple-Brown LJ; Menzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia; Department of Endocrinology, Royal Darwin and Palmerston Hospitals, Darwin, Northern Territory, Australia., Brown A; Indigenous Genomics, Telethon Kids Institute, Adelaide, South Australia, Australia; National Centre for Indigenous Genomics, The John Curtin School of Medical Research, Australian National University, Australian Capital Territory, Australia., Craig JE; Flinders Centre for Ophthalmology, Eye and Vision Research, Department of Ophthalmology, Flinders University, Adelaide, Australia.

Publikováno v: Primary care diabetes [Prim Care Diabetes] 2024 Oct; Vol. 18 (5), pp. 547-554. Date of Electronic Publication: 2024 Sep 03.

Polygenic Risk Scores Driving Clinical Change in Glaucoma.

Autor: Kolovos A; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au., Hassall MM; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au., Siggs OM; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia; email: o.siggs@garvan.org.au.; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au., Souzeau E; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au., Craig JE; Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Adelaide, South Australia, Australia; email: antonia.kolovos@flinders.edu.au, mark.hassall@flinders.edu.au, emmanuelle.souzeau@flinders.edu.au, jamie.craig@flinders.edu.au.

Publikováno v: Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2024 Aug; Vol. 25 (1), pp. 287-308. Date of Electronic Publication: 2024 Aug 06.