22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

October 24, 2021
Open Access

Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.

Brain Sciences
Antonio Gennaro NicoteraFrancesco Calì
October 24, 2021
Review
Open Access

Autoimmunity in Primary Immunodeficiency Disorders: An Updated Review on Pathogenic and Clinical Implications.

Journal of Clinical Medicine
Giorgio CostagliolaRita Consolini
October 24, 2021
Review
Open Access

MicroRNAs in the Onset of Schizophrenia.

Cells
Kristen T Thomas, Stanislav S Zakharenko
October 24, 2021

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing.

Molecular Psychiatry
Eli J CornblathDani S Bassett
October 22, 2021

Incidence of New-Onset Obstructive Sleep Apnea After Posterior Flap Pharyngoplasty in Children.

Annals of Plastic Surgery
Ines TrabelsiBrigitte Fauroux
October 17, 2021

Narrative comprehension and production abilities of children with 22q11.2 deletion syndrome.

Research in Developmental Disabilities
Iris SeltenFrank Wijnen
October 14, 2021
Preprint
Open Access

Direct induction of human neurons from fibroblasts carrying the neuropsychiatric 22q11.2 microdeletion reveals transcriptome- and epigenome-wide alterations

BioRxiv : the Preprint Server for Biology
C. PurmannAlexander Eckehart Urban
October 13, 2021
Review

Eye Direction Detection and Perception as Premises of a Social Brain: A Narrative Review of Behavioral and Neural Data.

Cognitive, Affective & Behavioral Neuroscience
Marie-Noëlle BabinetGeorge A Michael
October 8, 2021

Heterotopia in Individuals with 22q11.2 Deletion Syndrome.

AJNR. American Journal of Neuroradiology
E NeuhausA Jurcoane
October 7, 2021
Preprint
Open Access

Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathology

MedRxiv : the Preprint Server for Health Sciences
Lasse PihlstromM. Toft
October 2, 2021

Complex small-world regulatory networks emerge from the 3D organisation of the human genome.

Nature Communications
C A BrackleyD Marenduzzo
October 2, 2021
Case Report

Microphthalmia and orbital cysts in DiGeorge syndrome.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Arthika ChandramohanAndrea Lora Kossler
October 1, 2021

Cell-free DNA screening for fetal 22q11.2 deletion: a targeted test or genome-wide methodology?

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
X-Y Jing, D-Z Li
September 27, 2021

Neuropsychological and ASD phenotypes in rare genetic syndromes: A critical review of the literature.

The Clinical Neuropsychologist
Lauren Bush, Megan N Scott
September 27, 2021

Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome.

Fetal Diagnosis and Therapy
Tzu-Yi LinSteven W Shaw
September 23, 2021
Open Access

Pharmacological Rescue of the Brain Cortex Phenotype of Tbx1 Mouse Mutants: Significance for 22q11.2 Deletion Syndrome.

Frontiers in Molecular Neuroscience
Ilaria FavicchiaElizabeth Illingworth

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