Results 1 to 10 of about 241,233 (172)
Continuous Intrajejunal Levodopa-Carbidopa Infusion in Parkinson's Disease Associated with 22q11.2 Deletion Syndrome: A Case Series. [PDF]
Mov Disord Clin PractAbstract Background 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early‐onset Parkinson's disease (EOPD). Management is challenging because psychiatric and cognitive comorbidities often limit advanced therapies such as deep brain stimulation (DBS). Cases We report 2 patients with
Andrés VV +10 more
europepmc +2 more sources
Fibroblast-driven collagen expansion and altered thymic medullary niches in 22q11.2 deletion syndromeThymic alterations in 22q11.2 deletion syndrome [PDF]
Journal of Human ImmunityThe mechanisms underlying thymic dysfunction in the 22q11.2 deletion syndrome are poorly defined. In this study, Hennings et al. integrated spatial transcriptomic and proteomic analyses of thymus tissue from patients with 22q11.2 deletion syndrome to ...
Viktoria Hennings +8 more
doaj +2 more sources
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
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Acta Medica Iranica, 2021 22q11.2 deletion syndrome is caused by a deletion in chromosome 22q11.2 and has more than 180 distinct phenotypes, however, no finding is pathognomonic or even mandatory. This syndrome can be diagnosed by fluorescence in situ hybridization.
Natalia Dayane Moura Carvalho +4 more
doaj +1 more source
Residência Pediátrica, 2023 22q11.2 Deletion Syndrome is the commonest microdeletion syndrome in humans and has a wide spec-trum of clinical manifestations, such as craniofacial dysmorphism, airway malformations, heart disease, renal malformations, hypoparathyroidism, neurological ...
Camila Dalle Rocha +5 more
doaj +1 more source
A method of large DNA fragment enrichment for nanopore sequencing in region 22q11.2
Frontiers in Genetics, 2022 Background: 22q11.2 deletion syndrome (22q11.2DS) is a disorder caused when a small part of chromosome 22 is missing. Diagnosis is currently established by the identification of a heterozygous deletion at chromosome 22q11.2 through chromosomal microarray
Yu-Qing Lei +10 more
doaj +1 more source
Cardiogenetics, 2022 22q11.2 deletion syndrome is a phenotypic spectrum that encompasses DiGeorge syndrome (OMIM: 188400) and velocardiofacial syndrome (OMIM: 192430). It is caused by a 1.5–3.0 Mb hemizygous deletion of locus 22q11.2, which leads to characteristic facies ...
Felix-Julian Campos-Garcia +7 more
doaj +1 more source
PCN Reports, 2022 Background Rubinstein–Taybi syndrome (RTS) is a rare autosomal‐dominant disease. Almost all cases are sporadic and attributed to de novo variant. Psychotic symptoms in RTS are rare and have been reported in only a few published cases.
Yasuhito Nagai +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2023 Objective This study aimed to establish a cell-free fetal DNA (cffDNA) assay using multiplex digital PCR (dPCR) for identifying fetuses at increased risk of 22q11.2 deletion/duplication syndrome. Methods Six detection sites and their corresponding probes
Jing Wang +7 more
doaj +1 more source
De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia
Molecular Genetics & Genomic Medicine, 2022 Background Congenital microtia is a common craniofacial malformation resulting from both environmental and genetic factors. Recurrent chromosomal imbalances were observed in patients with microtia.
Nuo Si +6 more
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