Results 21 to 30 of about 241,233 (172)
Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate
Advanced Biomedical Research, 2016 Background: 22q11.2 microdeletion syndrome is the most common multiple genetic disorder associated with learning disabilities, developmental delays, immune deficiency, hypocalcemia, and cleft palate.
Narges Nouri +8 more
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Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports
Case Reports in Pediatrics, 2016 Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion
Kazushi Yasuda +3 more
doaj +1 more source
Molecular Cytogenetics, 2012 Background The phenotype in patients with a 22q11.2 deletion or duplication can be extremely variable, and the causes of such as variations are not well known.
Li Deling +3 more
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Conditional and constitutive expression of a Tbx1-GFP fusion protein in mice. [PDF]
, 2013 BACKGROUND: Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is caused by a 1.5-3 Mb microdeletion of chromosome 22q11.2, frequently referred to as 22q11.2 deletion syndrome (22q11DS).
Morrow BE +8 more
core +1 more source
22q11.2 deletion syndrome and psychosis – regarding a clinical case
European Psychiatry, 2022 Introduction 22q11.2 deletion syndrome is the most common microdeletion syndrome. Its clinical presentation varies and it may present several medical complications, namely heart defects, cleft palate, autoimmune diseases, delayed development, and ...
F. Santos Martins, C. Guerra
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Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]
, 2013 The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
E. Graham Davies +2 more
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Neurological manifestation of 22q11.2 deletion syndrome
, 2022 22q11.2 deletion syndrome is the most common microdeletion syndrome. This article reviews the different neurological manifestations of 22q11.2 deletion syndrome.
Bayat, Allan; id_orcid, Bayat, Michael
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Neurobiological perspective of 22q11.2 deletion syndrome [PDF]
, 2019 22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum ...
van Amelsvoort, Therese A. M. J. +9 more
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Cytokines, apoptosis and complement in 22q11.2 deletion syndrome (DiGeorge syndrome)
, 2020 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.
Grinde, Dina
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A CRISPR-engineered isogenic model of the 22q11.2 A-B syndromic deletion
Scientific Reports, 2023 22q11.2 deletion syndrome, associated with congenital and neuropsychiatric anomalies, is the most common copy number variant (CNV)-associated syndrome. Patient-derived, induced pluripotent stem cell (iPS) models have provided insight into this condition.
Neha Paranjape +7 more
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