22q11.2 Deletion Syndrome–Associated Parkinson's Disease
Sign Up to like & getrecommendations! Published in 2019 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.12687
Abstract: 22q11.2 deletion syndrome (22q11.2DS) is a multisystem condition associated with an increased risk of early‐onset Parkinson's disease (PD). read more here.
Keywords: syndrome associated; deletion syndrome; 22q11 deletion; parkinson disease ... See more keywords
Candidate modifier genes for immune function in 22q11.2 deletion syndrome
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DOI: 10.1002/mgg3.1057
Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is the most common contiguous microdeletion affecting humans and exhibits extreme phenotypic heterogeneity. Patients can manifest any combination of comorbidities including congenital heart disease, hypoparathyroidism, cleft palate, kidney abnormalities, neurodevelopmental… read more here.
Keywords: deletion syndrome; candidate modifier; genes immune; modifier genes ... See more keywords
Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Cardiology"
DOI: 10.1007/s00246-021-02645-7
Abstract: Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs). However, the long-term implications of isolated ARD in 22q11.2DS remain undefined. In this study,… read more here.
Keywords: deletion syndrome; root; patients 22q11; root dilation ... See more keywords
Attentional functioning in individuals with 22q11 deletion syndrome: insight from ERPs
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DOI: 10.1007/s00702-018-1873-5
Abstract: The 22q11 deletion syndrome (22q11DS), or DiGeorge syndrome (DG), is one of the most common genetic deletion syndromes. DG also carries a high risk for psychiatric disorders, with learning disabilities frequently being reported. Impairments in… read more here.
Keywords: deletion syndrome; attentional functioning; deletion; functioning individuals ... See more keywords
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
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DOI: 10.1007/s10875-017-0394-6
Abstract: PurposePatients with 22q11.2 deletion syndrome have a variable decrease in immunological parameters, especially regarding T cell counts. The aim of this study was to investigate immunological change over time and factors associated with immunological recovery… read more here.
Keywords: deletion syndrome; resolution; 22q11 deletion; age ... See more keywords
Complement Activation in 22q11.2 Deletion Syndrome
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DOI: 10.1007/s10875-020-00766-x
Abstract: The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births. These patients may suffer from affection of many organ systems with… read more here.
Keywords: complement; complement activation; deletion syndrome; 22q11 deletion ... See more keywords
Accelerated Maturation, Exhaustion, and Senescence of T cells in 22q11.2 Deletion Syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical immunology"
DOI: 10.1007/s10875-021-01154-9
Abstract: PURPOSE 22q11.2 deletion syndrome (22q11.2DS) is a primary immunodeficiency characterized chiefly by the hypoplasia of the thymus resulting in T cell lymphopenia, increased susceptibility to infections, and higher risk of autoimmune diseases. The irregular thymic… read more here.
Keywords: deletion syndrome; cell; 22q11 2ds; senescence ... See more keywords
Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)
Sign Up to like & getrecommendations! Published in 2018 at "Current Allergy and Asthma Reports"
DOI: 10.1007/s11882-018-0823-5
Abstract: Purpose of ReviewThis review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.Recent FindingsClinically, the associated thymic hypoplasia/aplasia is… read more here.
Keywords: deletion; digeorge syndrome; 22q11 deletion; chromosome 22q11 ... See more keywords
Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
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DOI: 10.1007/s11920-021-01225-z
Abstract: The 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is… read more here.
Keywords: deletion syndrome; trajectories psychiatric; neurodevelopmental phenotypes; neurodevelopmental trajectories ... See more keywords
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypesin a Zebrafish Model of 22q11.2 Deletion Syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Cell reports"
DOI: 10.1016/j.celrep.2018.06.117
Abstract: SUMMARY Microdeletions involving TBX1 result in variable congenital malformations known collectively as 22q11.2 deletion syndrome (22q11.2DS). Tbx1-deficient mice and zebrafish recapitulate several disease phenotypes, including pharyngeal arch artery (PAA), head muscle (HM), and cardiac outflow… read more here.
Keywords: deletion syndrome; pharyngeal arch; progenitor; specification ... See more keywords
Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.02.006
Abstract: BACKGROUND Lymphedema is an abnormal accumulation of interstitial fluid within the tissues. Primary lymphedema is caused by aberrant lymphangiogenesis and it has been historically classified based on age at presentation. Although most cases are sporadic,… read more here.
Keywords: primary lymphedema; deletion syndrome; 22q11 deletion;