What's New

Last Posted: Jun 18, 2024

• Loss-of-function polymorphisms in NQO1 are not associated with the development of subacute myelo-optico-neuropathy.
  Hideki Matsumoto, et al. Molecular genetics & genomic medicine 2024 0 (6) e2470
• RB1 gene mutations and genetic spectrum in retinoblastoma cases.
  Demet Akdeniz Odemis, et al. Medicine 2023 0 (36) e35068
• Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
  Nilay Güne?, et al. Turkish archives of pediatrics 2023 0
• Defining the phenotypic spectrum of sporadic Creutzfeldt-Jakob disease MV2K: the kuru plaque type.
  Baiardi Simone, et al. Brain : a journal of neurology 2023 0
• Disease severity and genotype-phenotype correlation in adult patients with familial Mediterranean fever.
  Tuncer Kuru Fatma, et al. Modern rheumatology 2023 0
• Genomic features of renal cell carcinoma with venous tumor thrombus.
  Warsow Gregor, et al. Scientific reports 2018 0 (1) 7477
• Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.
  Akdeniz Demet, et al. Molecular genetics & genomic medicine 2019 0 (8) e785
• First Molecular Detection of Pneumocystis spp. in the Golden Jackal (Canis aureus).
  Kureljuši? Branislav, et al. Journal of wildlife diseases 2022 0 (4) 897-901
• FGFR4 c.1162G?>?A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma.
  Akdeniz Odemis Demet, et al. Journal of oncology 2021 0 9401038
• The impact of the presence of fibromyalgia on fatigue in patients with psoriatic arthritis: comparison with controls.
  Ulus Yasemin, et al. Advances in rheumatology (London, England) 2020 0 (1) 1
• Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
  Dundar Munis, et al. Functional & integrative genomics 2022 0 (3) 291-315
• The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
  Cine Naci, et al. Annals of human genetics 2022 12
• One woman’s race to defuse the genetic time bomb in her genes
  A Regalado, Tech Review, July 23, 2018
• Frequency of Rearrangements Versus Small Indels Mutations in BRCA1 and BRCA2 Genes in Turkish Patients with High Risk Breast and Ovarian Cancer.
  Yaz?c? Hülya, et al. European journal of breast health 2018 4 (2) 93-99
• Influence of the MIF polymorphism -173G > C on Turkish postmenopausal women with osteoporosis.
  Ozsoy A Z, et al. Zeitschrift fur Rheumatologie 2017 9
• Association analysis of the functional MAOA gene promoter and MAOB gene intron 13 polymorphisms in tension type headache patients.
  Edgnülü Tuba G, et al. Advances in clinical and experimental medicine : official organ Wroclaw Medical University 0 0 (6) 901-6
• Rare structural genetic variation in human prion diseases.
  Lukic Ana, et al. Neurobiology of aging 2015 5 (5) 2004.e1-8
• Granzyme B gene polymorphism associated with subacute sclerosing panencephalitis.
  Yentur Sibel P, et al. Neuropediatrics 2014 10 (5) 309-13
• RARB and STMN2 polymorphisms are not associated with sporadic Creutzfeldt-Jakob disease (CJD) in the Korean population.
  Jeong Byung-Hoon, et al. Molecular biology reports 2014 0 (4) 2389-95
• Association between osteoporosis and polymorphisms of the IL-10 and TGF-beta genes in Turkish postmenopausal women.
  Tural Sengul, et al. Human immunology 2013 9 (9) 1179-83
• Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
  Mead Simon, et al. Human molecular genetics 2012 4 (8) 1897-906
• Kuru
  From NCATS Genetic and Rare Diseases Information Center
• Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
  Mead Simon, et al. The Lancet. Neurology 2009 1 (1) 57-66
• Genetic susceptibility, evolution and the kuru epidemic.
  Mead Simon, et al. Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2008 11 (1510) 3741-6
• Early sign of atherosclerosis in slow coronary flow and relationship with angiotensin-converting enzyme I/D polymorphism.
  Tanriverdi Halil, et al. Heart and vessels 2007 1 (1) 1-8
• HLA-B27 polymorphism in Turkish patients with ankylosing spondylitis.
  Birinci Asuman, et al. Rheumatology international 2006 2 (4) 285-7
• Prion genotypes in Central America suggest selection for the V129 allele.
  Hardy John, et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2006 1 (1) 33-5
• Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype.
  Lee H S, et al. The Journal of infectious diseases 2001 1 (2) 192-196