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合計出現文献数: 170
100 件 (発表年降順)
100 件 (発表年昇順)
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略語 : DGS
展開形 : DiGeorge syndrome
  (22q11.2染色体領域の微細欠失による先天性症候群) ディジョージ症候群, DiGeorge症候群, デイジョージ症候群
No. 発表年 題目 共起略語
2023 Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features. ALPS, ITP
2023 Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. 22q11.2del, CHARGE, DTD
2023 DiGeorge Syndrome With Absence of Speech: A Rare Case. ---
2023 Estimation on risk of spontaneous abortions by genomic disorders from a meta-analysis of microarray results on large case series of pregnancy losses. CMA, pCNVs, POC, SAB, WBS, WHS
2023 Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome. ASDs, DGS1, ROS
2022 22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation. ACMG, CNVs, VCFS
2022 Craniofacial Phenotypes and Genetics of DiGeorge Syndrome. VCFS
2022 DiGeorge syndrome: consider the diagnosis. ---
2022 Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies. CNV, NIPT, PPV
10  2022 Psychiatric Comorbidities in Adults with DiGeorge Syndrome. OR
11  2022 Safety of Live Immunization in DiGeorge Syndrome: A Retrospective Single-Center Study in Korea, 2005-2021. ---
12  2022 Thymic hypoplasia induced by copy number variations contributed to explaining sudden infant death based on forensic autopsies. CNVs, MLPA
13  2021 Clinical Manifestations of 22q11.2 Deletion Syndrome. 22q11DS
14  2021 Humoral Immunodeficiency and Immune Globulin Replacement Therapy (IGRT) Usage in DiGeorge Syndrome. IgRT, USIDNET
15  2021 Plasma cells are essentially absent in the luminal gastrointestinal tract of patients with "complete" 22q11.2 deletion syndrome (DiGeorge syndrome). ---
16  2021 Successful treatment of severe allergic asthma with omalizumab in a girl with DiGeorge syndrome. ---
17  2021 Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome. aCGH, CI, NIPT, TP
19  2020 Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion. 22q11.2DS
20  2020 Establishing a human embryonic stem cell clone with a heterozygous mutation in the DGCR8 gene. ---
21  2020 Intellectual disability: dendritic anomalies and emerging genetic perspectives. CRMP3, DRP-4, DPYSL4, DS, FISH, FXS, ID, RTT
22  2020 Metabolic Parameters in Patients with Prader-Willi Syndrome and DiGeorge Syndrome with Respect to Psychopathological Manifestation. CBCL, HOMA-IR, PWS
23  2019 A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome. CHD, FISH, TBX1, VCFS
24  2019 A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. aCGH, ADR, DS, FISH, NIPT, pCNVs, RF, TS
25  2019 Characteristics and Outcomes of Heart Transplantation in DiGeorge Syndrome. CHD
26  2019 Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center. pDGS
27  2019 Immune system defects in DiGeorge syndrome and association with clinical course. HR, SR
28  2018 DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy. NTDs
29  2018 Early-onset psychosis in an adolescent with DiGeorge syndrome: A case report. ---
30  2018 Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease. EOPD
31  2018 Syndromes with aortic involvement: pictorial review. ADPKD, AGS, MFS, NF, TS, WS
32  2018 Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population. ---
33  2017 Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report. CGH, GSD Ia, NGS, ONHD
34  2017 DiGeorge Syndrome Associated with Azoospermia: First case in the literature. FISH
35  2017 DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus. BMP, DGA
36  2017 Identification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome. ---
37  2017 [An Adult Case of 22q11.2 Deletion Syndrome with Congenital Abnormalities and Neurodevelopmental Disorders, Which Remained Undiagnosed Until Presentation of Auditory Hallucinations]. 22q11.2DS, CTAF, FISH, VCFS
38  2016 Dermatological clues to the diagnosis of atypical complete DiGeorge syndrome. ---
39  2016 Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations. NCs
40  2015 "FISHed" out the diagnosis: A case of DiGeorge syndrome. CHD, FISH
41  2015 DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects. FISH
42  2015 Post-childhood Presentation and Diagnosis of DiGeorge Syndrome. ---
43  2014 Live vaccine use and safety in DiGeorge syndrome. AEFLI, MMR
44  2014 Prenatal diagnosis and molecular cytogenetic characterization ofchromosome 22q11.2 deletion syndrome associated with congenital heart defects. aCGH, FISH, LCR, MLPA
45  2014 Resolution of airflow obstruction on polysomnography after laryngotracheal reconstruction with anterior tracheal wall suspension in a patient with DiGeorge Syndrome. ATWS, PSG, SCT, SDB
46  2014 The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome. DBSs, KREC, PB, qPCR, TREC
47  2013 Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency. p14ARF
48  2013 DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation. ---
49  2013 Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. ---
50  2013 Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects. CTDs, MLPA, TBX1
51  2013 [Infantile DiGeorge syndrome: autopsy diagnosis and clinicopathologic analysis in 5 cases]. ---
52  2012 Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. ---
53  2012 Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1. NRP-1
54  2012 From murine to human nude/SCID: the thymus, T-cell development and the missing link. PIDs
55  2011 A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. del22q11, FGF8, TBX1, VCFS
56  2011 Bilateral polymicrogyria: always think in chromosome 22q11.2 deletion syndromes. FISH, PMG, VCFS
57  2011 Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties. ---
58  2011 Dgcr8 controls neural crest cells survival in cardiovascular development. CNCCs, Dgcr8, OFT, PTA, VSD
59  2010 Absence of the vagus nerve in the stomach of Tbx1-/- mutant mice. ---
60  2010 Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1. ---
61  2010 Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour. VCFs
62  2010 Effect of Tbx1 knock-down on cardiac performance in zebrafish. hpf
63  2009 Isolated congenital heart disease is associated with the 22q11 deletion even though it is rare. CHD, VCFS
64  2009 Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis. ---
65  2008 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. CGH, FISH, LCR, VCFS
66  2008 Esophageal atresia and tracheo-esophageal fistula associated with coarctation of the aorta, CHARGE association, and DiGeorge syndrome: a case report and literature review. CoA, EA, EA-TEF
67  2007 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. VCFS
68  2007 FastFISH: technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis. FISH
69  2007 Long-term results of bone marrow transplantation in complete DiGeorge syndrome. HCT
70  2006 antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (DiGeorge syndrome). HHcy, MTHFR
71  2006 Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. RA
72  2006 Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. VCFS
73  2006 SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome. ACE, ESR, NSAIDs, TB
74  2006 Type III mixed cryoglobulinemia and antiphospholipid syndrome in a patient with partial DiGeorge syndrome. APS, ASO, CT, DPGN, MMF, RF
75  2005 22q11 deletion syndrome and forensic research: can we go there? 22q11DS, CTAFS, VCFS
76  2005 A new case of a severe clinical phenotype of the cat-eye syndrome. CES, FISH
77  2005 Association of 22q11 deletion with isolated congenital heart disease in three Chinese ethnic groups. ASD, CHD, PDA, TOF, VCFS, VSD
78  2005 Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. NLS
79  2005 Post-natal ontogenesis of the T-cell receptor CD4 and CD8 Vbeta repertoire and immune function in children with DiGeorge syndrome. TCRBV, TRECs
80  2005 Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome. NRP-1, VEGF
81  2004 Functional analysis of polymorphisms in the promoter regions of genes on 22q11. CAF, CES, VCFS
82  2003 Decreased embryonic retinoic acid synthesis results in a DiGeorge syndrome phenotype in newborn mice. RA
83  2003 Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome. TEF
84  2003 Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis. OS, TCR
85  2003 Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. CAFS, DGCR, VCFS
86  2003 TBX1 is required for inner ear morphogenesis. ---
87  2002 Association of tetralogy of Fallot with a distinct region of del22q11.2. CHDs, DCRV, del22q11, MCR, STR, TOF, VCFS
88  2002 DiGeorge syndrome: the use of model organisms to dissect complex genetics. ---
89  2002 Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semiquantitative polymerase chain reaction method. PCR, VCFS
90  2002 Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. VCFS
91  2002 Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. ---
92  2002 The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome. VCFS
93  2002 [Microdeletion 22q11.2. A too rarely diagnosed genetic change in psychiatric illnesses]. VCFS
94  2001 Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). VCFS
95  2001 Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit. VCFS
96  2001 Isolation of novel cDNA encompassing the ADU balanced translocation break point in the DiGeorge critical region. ORF
97  2001 TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. VCFS
98  2000 An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. HDR, VCFS
99  2000 Conotruncal anomalies in the trisomy 16 mouse: an immunohistochemical analysis with emphasis on the involvement of the neural crest. Ts16
100  2000 Cortical dysgenesis in 2 patients with chromosome 22q11 deletion. VCFS