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22q11 Deletion Syndrome

22q11 Deletion Syndrome diagram by Adriano R Tonelli et al
Adriano R Tonelli et al

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
Bioinformatics

SPDI: Data Model for Variants and Applications at NCBI

BioinformaticsNovember 18, 2019
J. Bradley HolmesBrandi L. Kattman
Frontiers in Genetics

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome

Frontiers in GeneticsAugust 30, 2019
Shuyuan LiChen-Ming Xu
3
1
bioRxiv

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

bioRxivNovember 14, 2019
Alexis M. CrockettJorge Ivan Alvarez
14
bioRxiv

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
23
1
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons

Correction of both immunodeficiency and hypoparathyroidism by thymus transplantation in complete DiGeorge syndrome

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant SurgeonsOctober 30, 2019
Alexandra Y KreinsEdward G Davies
4
Journal of Medical Genetics

Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome

Journal of Medical GeneticsSeptember 10, 2019
Martina FanellaAlfredo Berardelli
10
1
1
Genome Research

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Genome ResearchSeptember 1, 2019
Wolfram DemaerelJoris Robert Vermeesch
12
6
21
Vaccine

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

VaccineOctober 21, 2019
Tracy A Becerra-CulquiHung Fu Tseng
Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and Oncology

Risk factors for vertebral compression fracture after spine stereotactic body radiation therapy: Long-term results of a prospective phase 2 study

Radiotherapy and Oncology : Journal of the European Society for Therapeutic Radiology and OncologySeptember 19, 2019
Frederick MantelMatthias Guckenberger
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery

Endoscopic pharyngeal pouch stapling: A retrospective study of 55 patients comparing intubation difficulty and body mass index as factors for success

Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial SurgeryOctober 29, 2019
Sumrit BolaStuart C A Winter
2
Medicine

Chronic obstructive pulmonary disease combined with vertebral compression fracture increases the risk of temporomandibular disorder: A population-based cohort study

MedicineSeptember 1, 2019
Kuei-Chen LeeYi-Shing Shieh
The Journal of Clinical Investigation

FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans

The Journal of Clinical InvestigationOctober 1, 2019
Qiumei DuNicolai S C van Oers
3
1
4
bioRxiv

Analysis of genes within the schizophrenia-linked 22q11.2 deletion identifies interaction of night owl/LZTR1 and NF1 in GABAergic sleep control

bioRxivSeptember 5, 2019
Gianna Wen MaurerKim Furbo Rewitz
4
American Journal of Medical Genetics. Part a

Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France

American Journal of Medical Genetics. Part aSeptember 1, 2019
Perrine MahéEric Jeziorski
Nanotoxicology

N6 -methyladenosine-dependent primary microRNA-126 processing activated PI3K-AKT-mTOR pathway drove the development of pulmonary fibrosis induced by nanoscale carbon black particles in rats

NanotoxicologySeptember 10, 2019
Bin HanRong Zhang
1
3
The Journal of Molecular Diagnostics : JMD

VarCover: Allele Min-Set Cover Software

The Journal of Molecular Diagnostics : JMDNovember 18, 2019
Erick R. ScottStuart A Scott
3
1
World Neurosurgery

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

World NeurosurgeryOctober 30, 2019
Xiao ZhaiMing Qing Li
Journal of Pediatric Orthopedics

The Clinical Utility of Flexion-extension Cervical Spine MRI in 22q11.2 Deletion Syndrome

Journal of Pediatric OrthopedicsSeptember 11, 2019
Samuel E KolmanDavid Adam Spiegel
Neuroscience and Biobehavioral Reviews

Systematic review and multi-modal meta-analysis of magnetic resonance imaging findings in 22q11.2 deletion syndrome: Is more evidence needed?

Neuroscience and Biobehavioral ReviewsSeptember 8, 2019
Cristina ScarpazzaStefania Tognin
29
7
International Journal of Molecular Sciences

Functional Dissection of pri-miR-290~295 in Dgcr8 Knockout Mouse Embryonic Stem Cells

International Journal of Molecular SciencesSeptember 5, 2019
Ming ShiYangming Wang

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