High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Norris, Kevin; Walne, Amanda J; Ponsford, Mark J; Cleal, Kez; Grimstead, Julia W; Ellison, Alicia; Alnajar, Jenna; Dokal, Inderjeet; Vulliamy, Tom; Baird, Duncan M

Norris, Kevin; Walne, Amanda J; Ponsford, Mark J; Cleal, Kez; Grimstead, Julia W; Ellison, Alicia; Alnajar, Jenna; Dokal, Inderjeet; Vulliamy, Tom; Baird, Duncan M.

Affiliation

Norris K; Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Walne AJ; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
Ponsford MJ; Immunodeficiency Centre for Wales, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK.
Cleal K; Division of Infection, Inflammation and Immunity, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Grimstead JW; Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Ellison A; Division of Cancer and Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.
Alnajar J; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
Dokal I; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
Vulliamy T; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK.
Baird DM; Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK. t.vulliamy@qmul.ac.uk.

Hum Genet ; 140(6): 945-955, 2021 Jun.

Article in En | MEDLINE | ID: mdl-33709208

Subject(s)

Bone Marrow Failure Disorders/diagnosis; Dyskeratosis Congenita/diagnosis; Fetal Growth Retardation/diagnosis; Genetic Carrier Screening/methods; Intellectual Disability/diagnosis; Microcephaly/diagnosis; Telomere/pathology; Adolescent; Adult; Age Factors; Aged; Asymptomatic Diseases; Bone Marrow Failure Disorders/genetics; Bone Marrow Failure Disorders/pathology; Case-Control Studies; Child; Child, Preschool; Dyskeratosis Congenita/genetics; Dyskeratosis Congenita/pathology; Female; Fetal Growth Retardation/genetics; Fetal Growth Retardation/pathology; Heterozygote; Humans; Infant; Intellectual Disability/genetics; Intellectual Disability/pathology; Male; Microcephaly/genetics; Microcephaly/pathology; Middle Aged; Severity of Illness Index; Survival Analysis; Telomere/metabolism; Telomere Homeostasis

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telomere / Dyskeratosis Congenita / Fetal Growth Retardation / Bone Marrow Failure Disorders / Genetic Carrier Screening / Intellectual Disability / Microcephaly Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Hum Genet Year: 2021 Type: Article Affiliation country: United kingdom

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