Psychiatric disorders from childhood to adulthood in 22q11. 2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11. 2 Deletion …
M Schneider, M Debbané, AS Bassett… - American Journal of …, 2014 - Am Psychiatric Assoc
Objective Chromosome 22q11. 2 deletion syndrome is a neurogenetic disorder associated
with high rates of schizophrenia and other psychiatric conditions. The authors report what is …
with high rates of schizophrenia and other psychiatric conditions. The authors report what is …
22q11. 2 deletion syndrome
DM McDonald-McGinn, KE Sullivan, B Marino… - Nature reviews Disease …, 2015 - nature.com
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
Estimate of the contemporary live-birth prevalence of recurrent 22q11. 2 deletions: a cross-sectional analysis from population-based newborn screening
C Blagojevic, T Heung, M Theriault… - … Open Access Journal, 2021 - cmajopen.ca
Background: Although pathogenic 22q11. 2 deletions are an important cause of
developmental delays and lifelong disease burden, their variable and complex clinical …
developmental delays and lifelong disease burden, their variable and complex clinical …
[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 …
Chromosome 22q11. 2 deletion syndrome and DiGeorge syndrome
KE Sullivan - Immunological Reviews, 2019 - Wiley Online Library
Summary Chromosome 22q11. 2 deletion syndrome is the most common microdeletion
syndrome in humans. The effects are protean and highly variable, making a unified …
syndrome in humans. The effects are protean and highly variable, making a unified …
22q11. 21 deletion syndromes: a review of proximal, central, and distal deletions and their associated features
RD Burnside - Cytogenetic and Genome Research, 2015 - karger.com
Abstract Chromosome 22q11. 21 contains a cluster of low-copy repeats (LCRs), referred to
as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in …
as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in …
[HTML][HTML] Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
D Smajlagić, K Lavrichenko, S Berland… - European Journal of …, 2021 - nature.com
Recurrent copy number variations (CNVs) are common causes of neurodevelopmental
disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at …
disorders (NDDs) and associated with a range of psychiatric traits. These CNVs occur at …
[HTML][HTML] Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis
AL Fenwick, M Kliszczak, F Cooper, J Murray… - The American Journal of …, 2016 - cell.com
DNA replication precisely duplicates the genome to ensure stable inheritance of genetic
information. Impaired licensing of origins of replication during the G 1 phase of the cell cycle …
information. Impaired licensing of origins of replication during the G 1 phase of the cell cycle …
22q11 deletion syndrome: current perspective
B Hacıhamdioğlu, D Hacıhamdioğlu… - The application of clinical …, 2015 - Taylor & Francis
Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy
repeats or segmental duplications. This region of the chromosome is very unstable and …
repeats or segmental duplications. This region of the chromosome is very unstable and …
[HTML][HTML] Maternal modifiers and parent-of-origin bias of the autism-associated 16p11. 2 CNV
MH Duyzend, X Nuttle, BP Coe, C Baker… - The American Journal of …, 2016 - cell.com
Recurrent deletions and duplications at chromosomal region 16p11. 2 are a major genetic
contributor to autism but also associate with a wider range of pediatric diagnoses, including …
contributor to autism but also associate with a wider range of pediatric diagnoses, including …