Results 11 to 20 of about 16,672 (213)
A model for preservation of thymocyte-depleted thymus [PDF]
Brazilian Journal of Medical and Biological Research, 2023 DiGeorge syndrome is a disorder caused by a microdeletion on the long arm of chromosome 22. Approximately 1% of patients diagnosed with DiGeorge syndrome may have an absence of a functional thymus, which characterizes the complete form of the syndrome ...
A.S. Dias +10 more
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Stem Cell Research, 2022 DiGeorge syndrome (22q11.2 deletion syndrome, or CATCH22 syndrome), caused by hemizygous deletion of chromosome 22q11.2, results in the poor development of multiple organs.
Tomoya Shimizu +9 more
doaj +1 more source
Novel retinal observations in a child with DiGeorge (22q11.2 deletion) syndrome
American Journal of Ophthalmology Case Reports, 2022 Purpose: DiGeorge (22q11.2 deletion) syndrome is the most common human deletion syndrome with wide range of ocular manifestations. Herein we describe a case with novel retinal observations in this conditions.
Igor Kozak, Syed A. Ali, Wei-Chi Wu
doaj +1 more source
Frontiers in Genetics, 2022 We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers through a systematic literature review. We also include a case of a constitutional balanced t(9;22)
Zimeng Gao +8 more
doaj +1 more source
Regulating Retinoic Acid Availability during Development and Regeneration: The Role of the CYP26 Enzymes. [PDF]
, 2020 This review focuses on the role of the Cytochrome p450 subfamily 26 (CYP26) retinoic acid (RA) degrading enzymes during development and regeneration. Cyp26 enzymes, along with retinoic acid synthesising enzymes, are absolutely required for RA homeostasis
Roberts, C
core +4 more sources
An Unexplained Case of Progressive Spastic Paraparesis in an Individual with Known DiGeorge Syndrome
Case Reports in Neurology, 2020 DiGeorge syndrome (22q11.2 deletion) is associated with several neurologic disorders including structural abnormalities involving brain and spine, movement disorders, and epilepsy.
Roshni Dhoot +3 more
doaj +1 more source
Aspiration pneumonia in the child with DiGeorge syndrome -A case report- [PDF]
Korean Journal of Anesthesiology, 2011 DiGeorge syndrome is associated with a chromosome 22q11.2 deletion and manifests with variable clinical findings. Aspiration pneumonia can be a perioperative complication of great concern in this syndrome.
Ji-Young Lee, Yun-Joung Han
doaj +1 more source
DiGeorge syndrome who developed lymphoproliferative mediastinal mass [PDF]
Korean Journal of Pediatrics, 2015 DiGeorge syndrome is an immunodeficient disease associated with abnormal development of 3rd and 4th pharyngeal pouches. As a hemizygous deletion of chromosome 22q11.2 occurs, various clinical phenotypes are shown with a broad spectrum.
Kyu Yeun Kim +5 more
doaj +1 more source
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]
, 2013 The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
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Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]
, 2015 BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao +5 more
core +2 more sources