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Item type:Publication, Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion(Springer Science and Business Media LLC, 2026-04-15) ;Muyang Cheng ;Yue Yin ;Worrawat Engchuan ;Tracy HeungKathleen Angkustsiri1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study(Wiley, 2025-02-07) ;Emma N.M.M. von Scheibler ;Ann Swillen; ;Nikolai Gil D. ReyesAnthony E. LangBackground deletion syndrome (22q11.2DS) has been associated with increased risk of early‐onset Parkinson's disease (PD).</jats:p></jats:sec><jats:sec><jats:title>Objective</jats:title><jats:p>To determine the prevalence and predictors of PD in a large international 22q11.2DS sample.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The sample comprised 856 adults (median age 28 (range 16–76) years; 53.0% female). PD was defined as clinical diagnosis by a neurologist (including bradykinesia, rest tremor and/or rigidity). Age‐specific risk and predictors of PD were analyzed using Kaplan–Meier curve and Cox regression.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>PD was present in 1.8% (95% CI: 0.9–2.6%) of the sample, 3.4% (95% CI: 2.2–4.6%) when including uncertain PD (clinical diagnosis or suspicion, but not meeting all criteria), and 14.0% (95% CI: 6.9–21.0%) of those aged ≥50 years. Median age at motor onset was 45 (range 20–66) years. None of the factors considered were associated with PD.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Given high PD prevalence and young onset, we propose periodic motor evaluations from age 40 years in 22q11.2DS1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome(2017) ;Anne S. Bassett ;Chelsea Lowther ;Daniele Merico ;Gregory CostainEva W. C. ChowScopus© Citations 77 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome(2023) ;Erik Boot ;Sólveig Óskarsdóttir ;Joanne C.Y. Loo ;Terrence Blaine CrowleyAni Orchanian-CheffScopus© Citations 76 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome(2023) ;Sólveig Óskarsdóttir ;Erik Boot ;Terrence Blaine Crowley ;Joanne C.Y. LooJill M. ArganbrightScopus© Citations 50 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion(2020) ;Isabelle Cleynen ;Worrawat Engchuan ;Matthew S. Hestand ;Tracy HeungAaron M. HollemanScopus© Citations 98 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Practical guidelines for managing adults with 22q11.2 deletion syndrome(2015) ;Wai Lun Alan Fung ;Nancy J. Butcher ;Gregory Costain ;Danielle M. AndradeErik Boot6Scopus© Citations 239 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease(2017) ;Nancy J. Butcher ;Connie Marras ;Margarita Pondal ;Pablo RusjanErik BootScopus© Citations 45 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects(2020) ;Yingjie Zhao ;Alexander Diacou ;H. Richard Johnston ;Fadi I. MusfeeDonna M. McDonald-McGinnScopus© Citations 53 1