Feed Preview

22q11 Deletion Syndrome

22q11 Deletion Syndrome diagram by Tonelli et al, Wikimedia
Tonelli et al, Wikimedia

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

Top 20 most recent papers
American Journal of Human Genetics

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

American Journal of Human GeneticsDecember 25, 2019
Yingjie ZhaoBernice E Morrow

Disruption of the blood brain barrier in 22q11.2 deletion syndrome

bioRxivNovember 14, 2019
Alexis M. CrockettJorge I Alvarez

Coding of social novelty in the hippocampal CA2 region and its disruption and rescue in a mouse model of schizophrenia

bioRxivNovember 7, 2019
Macayla L. DoneganSteven A. Siegelbaum

Safety of quadrivalent meningococcal conjugate vaccine in infants and toddlers 2 to 23-months old

VaccineOctober 28, 2019
Tracy A Becerra-CulquiHung Fu Tseng
Anticancer Research

Chronic Expanding Hematoma with a t(11;19)(q13;q13) Chromosomal Translocation

Anticancer ResearchJanuary 2, 2020
Ioannis PanagopoulosSverre Heim
Frontiers in Immunology

Phenotypical T Cell Differentiation Analysis: A Diagnostic and Predictive Tool in the Study of Primary Immunodeficiencies

Frontiers in ImmunologyDecember 19, 2019
Enrico AttardiCaterina Cancrini
Archives of Osteoporosis

A risk factor associated with subsequent new vertebral compression fracture after conservative therapy for patients with vertebral compression fracture: a retrospective observational study

Archives of OsteoporosisJanuary 4, 2020
Koun YamauchiTakayuki Kato
The Journal of Craniofacial Surgery

Access to Multidisciplinary Care for Patients With 22q11.2 Deletion Syndrome: Identifying Breakdowns in the Screening Process

The Journal of Craniofacial SurgeryJanuary 10, 2020
Amjed Abu-GhnameRenata S Maricevich
The Journal of Molecular Diagnostics : JMD

VarCover: Allele Min-Set Cover Software

The Journal of Molecular Diagnostics : JMDNovember 22, 2019
Erick R ScottStuart A Scott
World Neurosurgery

Reduced Puncture Time and Radiation Exposure of Percutaneous Transpedicular Puncture with Electronic Conductivity Device: A Randomized Clinical Trial

World NeurosurgeryNovember 4, 2019
Xiao ZhaiMing Li
International Journal of Pediatric Otorhinolaryngology

Associated syndromes in patients with Pierre Robin Sequence

International Journal of Pediatric OtorhinolaryngologyJanuary 14, 2020
Peter KarempelisBrianne Barnett Roby
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery

Laryngeal Web in the Pediatric Population: Evaluation and Management

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck SurgeryDecember 18, 2019
Claire M LawlorSukgi S Choi
Head & Face Medicine

Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome

Head & Face MedicineDecember 13, 2019
Arodi FarreraRocío Sánchez-Urbina
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis

Vena Cava Filters and In-Hospital Case Fatality Among Patients With Pulmonary Embolism: Results From a Large Population-Based Study

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/HemostasisNovember 21, 2019
Fulvio PomeroMatteo Bonzini

SPDI: Data Model for Variants and Applications at NCBI

BioinformaticsNovember 19, 2019
J Bradley HolmesBrandi Kattman
Molecular Therapy : the Journal of the American Society of Gene Therapy

DGCR8/ZFAT-AS1 Promotes CDX2 Transcription in a PRC2 Complex-Dependent Manner to Facilitate the Malignant Biological Behavior of Glioma Cells

Molecular Therapy : the Journal of the American Society of Gene TherapyDecember 10, 2019
Fangfang ZhangYixue Xue
Molecular Psychiatry

Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis

Molecular PsychiatryJanuary 12, 2020
Maria RogdakiOliver Howes
Archives of Disease in Childhood

Genetic characterisation of 22q11.2 variations and prevalence in patients with congenital heart disease

Archives of Disease in ChildhoodNovember 1, 2019
Hai-Tao HouGuo-Wei He
Cancer Management and Research

lncRNA DGCR5 Up-Regulates TGF-β1, Increases Cancer Cell Stemness and Predicts Survival of Prostate Cancer Patients

Cancer Management and ResearchJanuary 11, 2020
Bin LiZhe Lin
Schizophrenia Research

Association of a functional Claudin-5 variant with schizophrenia in female patients with the 22q11.2 deletion syndrome

Schizophrenia ResearchNovember 1, 2019
Yiran GuoJorge I Alvarez

See more papers from this feed

Related Feeds

Alagille Syndrome

Alagille syndrome is a multi-system genetic disorder that can affect the liver, heart, and other parts of the body. It’s characterization includes heart problems, liver damage, jaundice, and xanthomas. Here is the latest research.


Aneurysms are outward distensions or bulges that occurs in a weakened wall of blood vessels. Discover the latest research on aneurysms here.

Antiarrhythmic Agents: Mechanisms of Action

Understanding the mechanism of action of antiarrhythmic agents is essential in developing new medications as treatment of cardiac arrhythmias is currently limited by the reduced availability of safe and effective drugs. Discover the latest research on Antiarrhythmic Agents: Mechanism of Action here.

Aortic Aneurysm

An aortic aneurysm is the weakening and bulging of the blood vessel wall in the aorta. This causes dilatation of the aorta, which is usually asymptomatic but carries the risk of rupture and hemorrhage. Find the latest research on aortic aneurysms here.

Aortic Coarctation

Aortic coarctation is a congenital condition characterized by narrowing of the aorta. Discover the latest research on this disease here.

ApoE Phenotypes

Apolipoprotein E (APOE) is a protein involved in fat metabolism and associated with the pathogenesis of Alzheimer's disease and cardiovascular disease. Here is the latest research on APOE phenotypes.


Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic right ventricular dysplasia is a congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the right ventricle wall and loss of myocardial cells. Primary injuries usually are at the free wall of the right ventricular and right atria resulting in ventricular and supraventricular arrhythmias. Discover the latest research on arrhythmogenic right ventricular dysplasia here.

Arterial-Venous in Development & Disease

Arterial-venous development may play a crucial role in cardiovascular diseases. Here is the latest research.

Atherosclerosis Disease Progression

Atherosclerosis is the buildup of plaque on artery walls, causing stenosis which can eventually lead to clinically apparent cardiovascular disease. Find the latest research on atherosclerosis disease progression here.

© 2020 Meta ULC. All rights reserved