22q11 Deletion Syndrome

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.

April 18, 2020
Comment / Editorial
Open Access

ENIGMA-DTI: Translating reproducible white matter deficits into personalized vulnerability metrics in cross-diagnostic psychiatric research

Human Brain Mapping
Peter KochunovNeda Jahanshad
July 2, 2020
Comment / Editorial
Open Access

Subcortical Signatures of Hemizygosity and Psychosis in 22q11.2 Deletion Syndrome: Finding Common Ground in Rare Genetic Variation

The American Journal of Psychiatry
Daniel P EisenbergKaren F Berman
May 30, 2020
Open Access

Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development

Journal of Cardiovascular Development and Disease
Catherine A StothardSimon D Bamforth
April 30, 2020

Effect of a 22q11.2 Microdeletion on Adult All-Cause Mortality in Tetralogy of Fallot Patients

The Canadian Journal of Cardiology
Spencer van MilAnne S Bassett
May 8, 2020
Open Access

Movement Disorder Phenotypes in Children With 22q11.2 Deletion Syndrome

Movement Disorders : Official Journal of the Movement Disorder Society
Adam C CunninghamKathryn J Peall
July 7, 2020
Open Access

Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing

Molecular Medicine Reports
Fen-Xia LiXue-Xi Yang
May 27, 2020
Review

Argonaute proteins: Structural features, functions and emerging roles

Journal of Advanced Research
Jin'en WuYadong Zheng
May 5, 2020

Incidence, Risk Factors, and Outcomes of Cancer of the Anal Transitional Zone with Ulcerative Colitis.



Journal of Crohn's & Colitis
Yuki HorioHiroki Ikeuchi
July 6, 2020

Abnormal Development and Dysconnectivity of Distinct Thalamic Nuclei in Patients With 22q11.2 Deletion Syndrome Experiencing Auditory Hallucinations

Biological Psychiatry : Cognitive Neuroscience and Neuroimaging
Valentina ManciniStephan Eliez
May 23, 2020

TBX1 Regulates Chondrocyte Maturation in the Spheno-occipital Synchondrosis

Journal of Dental Research
N FunatoH Yanagisawa
June 21, 2020
Open Access

Mind-Mindedness and Stress in Parents of Children with Developmental Disorders

Journal of Autism and Developmental Disorders
Fionnuala LarkinElizabeth Meins
June 2, 2020
Preprint
Open Access

Contribution of mitochondrial DNA heteroplasmy to the phenotypic variability in maternally transmitted 22q11.2 deletion syndrome

MedRxiv : the Preprint Server for Health Sciences
B. Rebolledo-JaramilloGabriela M Repetto
June 4, 2020
Open Access

Prenatal screening of DiGeorge (22q11.2 deletion) syndrome by abnormalities of the great arteries among Thai pregnant women

Obstetrics & Gynecology Science
Kuntharee TraisrisilpTheera Tongsong
June 5, 2020

Clinical features of 22q11.2 deletion syndrome related to hearing and communication

Acta Oto-laryngologica
Noriomi SuzukiHiroyuki Yamagishi

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