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.

August 28, 2020

A Patient with 22q11.2 Deletion Syndrome Presenting with Systemic Skin Rash and Dermatopathic Lymphadenitis of Unusual Histology

The American Journal of Case Reports
Yoshiro OtsukiMitsunori Yamakawa
October 6, 2020
Open Access

Chromatin and Transcriptional Response to Loss of TBX1 in Early Differentiation of Mouse Cells

Frontiers in Cell and Developmental Biology
Andrea CirinoAntonio Baldini
October 17, 2020
Open Access

Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method

BioMed Research International
Sathiya MaranHuay Lin Tan
September 21, 2020
Open Access

A dual role for Tbx1 in cardiac lymphangiogenesis through genetic interaction with Vegfr3

FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
Stefania MartuccielloElizabeth Illingworth
October 18, 2020

Pharyngeal epithelial deletion of Tbx1 causes caudal pharyngeal arch defect but not cardiac conotruncal anomaly

Biochemical and Biophysical Research Communications
Lu WeiZhen Zhang
October 25, 2020

22q11.2 deletion syndrome and schizophrenia

Acta Biochimica Et Biophysica Sinica
Xianzheng QinTian Zhou
September 18, 2020
Open Access

Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Human Mutation
Katherine C MacKenzieMaria M Alves
September 30, 2020

Neuronal defects in a human cellular model of 22q11.2 deletion syndrome

Nature Medicine
Themasap A KhanSergiu P Paşca
September 15, 2020

Augmented autophagy suppresses thymocytes development via Bcl10/p-p65 pathway in prenatal nicotine exposed fetal mice

Ecotoxicology and Environmental Safety
Hui-Yi YanJie Ping
September 26, 2020
Case Report
Open Access

Case Report: Challenging Otologic Surgery in Patients With 22q11.2 Deletion Syndrome

Frontiers in Surgery
Emmy VerheijHans G X M Thomeer
August 9, 2020
Open Access

Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, China

Molecular Genetics & Genomic Medicine
Yan WangLiangpu Xu
August 19, 2020
Open Access

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report

BMC Ophthalmology
Claudia Valencia-PeñaCésar Payán-Gómez
August 28, 2020
Open Access

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Małgorzata Karbarz
August 29, 2020

Interaction of the craniofacial complex and velopharyngeal musculature on speech resonance in children with 22q11.2 deletion syndrome: An MRI analysis

Journal of Plastic, Reconstructive & Aesthetic Surgery : JPRAS
Lakshmi KollaraJamie L Perry
August 31, 2020

Initial validation of the diagnostic performance of Thymic-Thoracic Ratio as a marker of conotruncal abnormalities and for prediction of surgical prognosis in fetuses without 22q11.2 deletion

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Giovanna Irene BattistoniAndrea Ciavattini

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