| 1 |
2023 |
Case report: Effectiveness of sirolimus in treating partial DiGeorge Syndrome with Autoimmune Lymphoproliferative Syndrome (ALPS)-like features. |
ALPS, ITP |
| 2 |
2023 |
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. |
22q11.2del, CHARGE, DTD |
| 3 |
2023 |
DiGeorge Syndrome With Absence of Speech: A Rare Case. |
--- |
| 4 |
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 |
| 5 |
2023 |
Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome. |
ASDs, DGS1, ROS |
| 6 |
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 |
| 7 |
2022 |
Craniofacial Phenotypes and Genetics of DiGeorge Syndrome. |
VCFS |
| 8 |
2022 |
DiGeorge syndrome: consider the diagnosis. |
--- |
| 9 |
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 |
| 18 |
2020 |
CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM. |
HP, IHP |
| 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 |
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