[HTML][HTML] Updated clinical practice recommendations for managing adults with 22q11. 2 deletion syndrome
E Boot, S Oskarsdottir, JCY Loo, TB Crowley… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing adults with 22q11.
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …
2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society recruited expert clinicians …
Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review
EG Miller, AL Woodward, G Flinchum, JL Young… - Genetics in …, 2021 - nature.com
Purpose Social media may be particularly valuable in research in rare genetic diseases
because of the low numbers of patients and the rare disease community's robust online …
because of the low numbers of patients and the rare disease community's robust online …
[HTML][HTML] Cognitive deficits in childhood, adolescence and adulthood in 22q11. 2 deletion syndrome and association with psychopathology
S Morrison, SJRA Chawner… - Translational …, 2020 - nature.com
Abstract 22q11. 2 Deletion Syndrome (22q11. 2DS) is associated with high risk of
psychiatric disorders and cognitive impairment. It remains unclear to what extent key …
psychiatric disorders and cognitive impairment. It remains unclear to what extent key …
Cognitive phenotype and psychiatric disorder in 22q11. 2 deletion syndrome: A review
The behavioural phenotype of 22q11. 2 deletion syndrome syndrome (22q11DS), one of the
most common human multiple anomaly syndromes, frequently includes intellectual disability …
most common human multiple anomaly syndromes, frequently includes intellectual disability …
Subthreshold psychosis in 22q11. 2 deletion syndrome: multisite naturalistic study
Nearly one-third of individuals with 22q11. 2 deletion syndrome (22q11. 2DS) develop a
psychotic disorder during life, most of them by early adulthood. Importantly, a full-blown …
psychotic disorder during life, most of them by early adulthood. Importantly, a full-blown …
Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11. 2 deletion syndrome
R Weinberger, J Yi, M Calkins, Y Guri… - European …, 2016 - Elsevier
Abstract The 22q11. 2 deletion syndrome (22q11DS) is associated with increased rates of
psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate …
psychotic disorders and cognitive deficits, but large scale studies are needed to elucidate …
[HTML][HTML] Social cognition in individuals with 22q11. 2 deletion syndrome and its link with psychopathology and social outcomes: a review
B Milic, C Feller, M Schneider, M Debbané… - BMC psychiatry, 2021 - Springer
Abstract Background The 22q11. 2 deletion syndrome (22q11DS) is a genetic syndrome that
results in a highly variable profile of affected individuals of which impairments in the social …
results in a highly variable profile of affected individuals of which impairments in the social …
[HTML][HTML] Neuroanatomical Correlates of Cognitive Dysfunction in 22q11. 2 Deletion Syndrome
S Smerconish, JE Schmitt - Genes, 2024 - mdpi.com
22q11. 2 Deletion Syndrome (22q11. 2DS), the most common chromosomal microdeletion,
presents as a heterogeneous phenotype characterized by an array of anatomical …
presents as a heterogeneous phenotype characterized by an array of anatomical …
Performance on a computerized neurocognitive battery in 22q11. 2 deletion syndrome: A comparison between US and Israeli cohorts
JY James, R Weinberger, TM Moore, ME Calkins… - Brain and …, 2016 - Elsevier
Increasingly, the effects of copy number variation (CNV) in the genome on brain function and
behaviors are recognized as means to elucidate pathophysiology of psychiatric disorders …
behaviors are recognized as means to elucidate pathophysiology of psychiatric disorders …
Early language measures associated with later psychosis features in 22q11. 2 deletion syndrome
CB Solot, TM Moore, TB Crowley… - American Journal of …, 2020 - Wiley Online Library
Abstract The 22q11. 2 deletion syndrome (22q11DS) is associated with impaired cognitive
functions and increased risk for schizophrenia spectrum disorders. Speech and language …
functions and increased risk for schizophrenia spectrum disorders. Speech and language …