DiGeorge Syndrome

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. It is is characterized by cardiovascular, thymus and parathyroid defects and craniofacial anomalies. Discover the latest research on DiGeorge Syndrome here.

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 8, 2021

Heterotopia in Individuals with 22q11.2 Deletion Syndrome.

AJNR. American Journal of Neuroradiology
E NeuhausA Jurcoane
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
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
September 22, 2021
Preprint
Open Access

Alterations in resting-state activity and functional connectivity in children with 22q11.2 deletion syndrome

MedRxiv : the Preprint Server for Health Sciences
Joanne L DohertyK. D. Singh
September 19, 2021
Preprint
Open Access

Experimental and computational analysis of calcium dynamics in 22q11.2 deletion model astrocytes

BioRxiv : the Preprint Server for Biology
Ivan V. MalyM. V. Pletnikov
September 14, 2021
Correction
Open Access

Corrigendum #2 to "Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review".

Case Reports in Genetics
Jamie H ChoiNatario L Couser
September 6, 2021

Heterotopic Ossification in a Neonate with DiGeorge Syndrome.

Indian Journal of Pediatrics
Rajeev GuptaMala Kumar
August 28, 2021

Selective effects of methylphenidate on attention and inhibition in 22q11.2 deletion syndrome: results from a clinical trial.

The International Journal of Neuropsychopharmacology
Johanna MaederStephan Eliez
August 27, 2021
Open Access

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.

International Journal of Molecular Sciences
Kathleen RooneyPaolo Prontera

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