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
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
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
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
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

Sign up to follow this feed and discover related papers.

Related Feeds

AAV-based Gene Therapy

Adeno-associated virus (AAV)-based gene therapy is a biological vector that is being researched to be used as a potential therapeutic option. This gene therapy is designed to insert fragments of DNA into targeted cells to help treat diseases, such as hemophilia a. Discover the latest research on AAV-based gene therapy here.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Acute Myeloid Leukaemia & RNA

Acute myeloid leukaemia (AML) is a common hematological type of cancer. As the population ages, there has been a rise in the frequency of AML. RNA expression has been used to see if there are different genetic profiles that exist within AML and whether these may underpin the variations in survival rates. Here is the latest research on AML and RNA.

Alzheimer's Disease: Genetics

Alzheimer's disease is a neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations with this feed.

Antisense Oligonucleotide Therapies: ND

Antisense oligonucleotides are synthetic DNA oligomers that hybridize to a target RNA. This feed focuses on antisense oligonucleotide therapies such as Inotersen, Nusinursen, and Patisiran, in neurodegenerative diseases.

Antisense Oligonucleotides: ND

This feed focuses on antisense oligonucleotide therapies such as Inotersen, Nusinursen, and Patisiran, in neurodegenerative diseases including amyotrophic lateral sclerosis.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Breast Cancer: Risk Factors

Breast cancer is a multifactorial disease that is influenced by both environmental and genetic factors. Discover the latest research on the environmental and genetic risk factors for breast cancer here.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Cell-Type-Specific Viral Vectors

Viral vectors are used in biological research and therapy to deliver genetic material into cells. However, the efficiency of viral vectors varies depending on the cell type. Here is the latest research on cell-type-specific viral vectors.

© 2021 Meta ULC. All rights reserved