Works matching DE "DIGEORGE syndrome"
Results: 476
DGCR8 HITS-CLIP reveals novel functions for the Microprocessor.
- Published in:
- Nature Structural & Molecular Biology, 2012, v. 19, n. 8, p. 760, doi. 10.1038/nsmb.2344
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- Publication type:
- Article
"FISHed" out the diagnosis: A case of DiGeorge syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Correspondence to "Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease".
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- Pediatric Cardiology, 2024, v. 45, n. 2, p. 454, doi. 10.1007/s00246-023-03368-7
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- Publication type:
- Article
Ectopic Atrial Tachycardia in Infants Following Congenital Heart Disease Surgery.
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- Pediatric Cardiology, 2023, v. 44, n. 2, p. 479, doi. 10.1007/s00246-022-03068-8
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- Publication type:
- Article
Comparison of Postoperative, In-Hospital Outcomes After Complete Repair of Tetralogy of Fallot Between 22q11.2 Deletion Syndrome and Trisomy 21.
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- Pediatric Cardiology, 2022, v. 43, n. 2, p. 290, doi. 10.1007/s00246-021-02683-1
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- Publication type:
- Article
Hospital Survival After Surgical Repair of Truncus Arteriosus with Interrupted Aortic Arch: Results from a Multi-institutional Database.
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- Pediatric Cardiology, 2021, v. 42, n. 5, p. 1058, doi. 10.1007/s00246-021-02582-5
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- Publication type:
- Article
22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.
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- Pediatric Cardiology, 2018, v. 39, n. 5, p. 906, doi. 10.1007/s00246-018-1840-9
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- Article
Isolated Left Ventricular Noncompaction in a Newborn With Pierre-Robin Sequence.
- Published in:
- 2013
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- Publication type:
- Report
DGCR8 and the six hit, three-step model of schwannomatosis.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 1, p. 115, doi. 10.1007/s00401-021-02387-z
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- Article
Intellectual disability: dendritic anomalies and emerging genetic perspectives.
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- Acta Neuropathologica, 2021, v. 141, n. 2, p. 139, doi. 10.1007/s00401-020-02244-5
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- Publication type:
- Article
Prenatal-screening companies expand scope of DNA tests.
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- Nature, 2014, v. 507, n. 7490, p. 19, doi. 10.1038/507019a
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- Publication type:
- Article
DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.
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- JCEM Case Reports, 2024, v. 2, n. 7, p. 1, doi. 10.1210/jcemcr/luae136
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- Publication type:
- Article
Subglottic stenosis as an early presentation of DiGeorge Syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
Investigation of DEL22 Frequency with Fluorescent In Situ Hybridization Method in Children with Conotruncal Heart Anomaly.
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- European Journal of Therapeutics, 2022, v. 28, n. 3, p. 242, doi. 10.5152/EurJTher.2022.21014
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- Publication type:
- Article
22Q11.2 deletion syndrome and psychosis: About a case.
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- European Psychiatry, 2021, v. 64, p. S628, doi. 10.1192/j.eurpsy.2021.1669
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- Publication type:
- Article
The impact of social cognition deficits on real life functioning in 22q11.2 deletion syndrome: A comparative study with a large population of patients with schizophrenia.
- Published in:
- European Psychiatry, 2021, v. 64, p. S541, doi. 10.1192/j.eurpsy.2021.1445
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- Publication type:
- Article
Digeorge Syndrome: Psychotic Risk and ERPS Correlates.
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- European Psychiatry, 2015, v. 30, p. 885, doi. 10.1016/S0924-9338(15)30691-X
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- Publication type:
- Article
Safety of Live Immunization in DiGeorge Syndrome: A Retrospective Single-Center Study in Korea, 2005–2021.
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- Vaccines, 2022, v. 10, n. 12, p. 2165, doi. 10.3390/vaccines10122165
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- Publication type:
- Article
Investigational Management for a Positive NIPT Result - Case Report.
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- Medicina Moderna, 2024, v. 31, n. 2, p. 187, doi. 10.31689/rmm.2024.31.2.187
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- Publication type:
- Article
22q11.2 deletion syndrome complicated with pulmonary alveolar proteinosis in a child: a case report.
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- European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 2, p. 687
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- Publication type:
- Article
LncRNA DGCR5 promotes non-small cell lung cancer progression via sponging miR-218-5p.
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- European Review for Medical & Pharmacological Sciences, 2019, v. 23, n. 22, p. 9947
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- Publication type:
- Article
Tetralogy of Fallot With Absent Pulmonary Valve Syndrome: The Experience of a Tertiary Care Center in a Developing Country.
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- Echocardiography, 2024, v. 41, n. 10, p. 1, doi. 10.1111/echo.15942
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- Publication type:
- Article
Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.
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- Brain Sciences (2076-3425), 2025, v. 15, n. 1, p. 24, doi. 10.3390/brainsci15010024
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- Publication type:
- Article
Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.
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- Biomolecules (2218-273X), 2024, v. 14, n. 5, p. 569, doi. 10.3390/biom14050569
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- Publication type:
- Article
Histological Analysis of a Mouse Model of the 22q11.2 Microdeletion Syndrome.
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- Biomolecules (2218-273X), 2023, v. 13, n. 5, p. 763, doi. 10.3390/biom13050763
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- Publication type:
- Article
Neurobehavioral risk factors influence prevalence and severity of hazardous substance use in youth at genetic and clinical high risk for psychosis.
- Published in:
- Frontiers in Psychiatry, 2023, p. 1, doi. 10.3389/fpsyt.2023.1143315
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- Publication type:
- Article
Effects of risperidone on psychotic symptoms and cognitive functions in 22q11.2 deletion syndrome: Results from a clinical trial.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 01, doi. 10.3389/fpsyt.2022.972420
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- Publication type:
- Article
Possible Commonalities of Clinical Manifestations Between Dystonia and Catatonia.
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- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.876678
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- Publication type:
- Article
Upregulation of DGCR8, a Candidate Predisposing to Schizophrenia in Han Chinese, Contributes to Phenotypic Deficits and Neuronal Migration Delay.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.873873
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- Publication type:
- Article
Analyses of thymocyte commitment to regulatory T cell lineage in thymus of healthy subjects and patients with 22q11.2 deletion syndrome.
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- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1088059
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- Publication type:
- Article
Cardiac aspects of DiGeorge syndrome: a report of two cases with molecular analysis.
- Published in:
- 2014
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- Publication type:
- Case Study
Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Answers.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 10, p. 1735, doi. 10.1007/s00467-019-04243-5
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- Publication type:
- Article
Glomerulonephritis and nephrotic syndrome in a child with DiGeorge syndrome: Questions.
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- Pediatric Nephrology, 2019, v. 34, n. 10, p. 1733, doi. 10.1007/s00467-019-04242-6
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- Publication type:
- Article
Difficulties in cochlear implantation in children with Di George syndrome.
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- Journal of Hearing Science, 2018, v. 8, n. 2, p. 319
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- Publication type:
- Article
Single-cell transcriptomics uncovers a non-autonomous Tbx1-dependent genetic program controlling cardiac neural crest cell development.
- Published in:
- Nature Communications, 2023, p. 1, doi. 10.1038/s41467-023-37015-9
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- Publication type:
- Article
RELEVANCE OF DELETION BREAKPOINT SPECIFICATION IN 22q11.2 DELETION SYNDROME: CLINICAL MANAGEMENT OF THREE ILLUSTRATIVE PATIENTS.
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- Clinical Neuropsychiatry, 2018, v. 15, n. 5, p. 306
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- Publication type:
- Article
Anomalous Fusion of Right Pulmonary Artery to Aortic Arch: Case Report of a Rare and Fatal Congenital Malformation in a Newborn and a Literature Review.
- Published in:
- 2018
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- Publication type:
- Case Study
Delayed biventricular repair of interrupted aortic arch with left ventricular outflow tract obstruction in 22q11.2 deletion syndrome: a case report.
- Published in:
- 2022
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- Publication type:
- Case Study
22q11.2 Microduplication with Thyroid Hemiagenesis.
- Published in:
- 2013
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- Publication type:
- Case Study
Kromozom 22q11.2 Delesyon Sendromunun Ender Bir Bulgusu: Multikistik Displastik Böbrek.
- Published in:
- Journal of the Child / Çocuk Dergisi, 2019, v. 19, n. 3, p. 163, doi. 10.5222/j.child.2019.76768
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- Publication type:
- Article
Genetik Durum Varlığı ile Konjenital Kalp Hastalıkları Birlikteliği: Cerrahi Sonuçlar Nasıl Etkilenir?
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- Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi, 2019, v. 16, n. 1, p. 63
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- Publication type:
- Article
22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.
- Published in:
- Genes, 2025, v. 16, n. 1, p. 72, doi. 10.3390/genes16010072
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- Publication type:
- Article
Mortality in Patients with 22q11.2 Rearrangements.
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- Genes, 2024, v. 15, n. 9, p. 1146, doi. 10.3390/genes15091146
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- Publication type:
- Article
Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables.
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- Genes, 2024, v. 15, n. 5, p. 595, doi. 10.3390/genes15050595
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- Publication type:
- Article
22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
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- Genes, 2024, v. 15, n. 4, p. 518, doi. 10.3390/genes15040518
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- Publication type:
- Article
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.
- Published in:
- 2024
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- Publication type:
- Case Study
Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 440, doi. 10.3390/genes15040440
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- Publication type:
- Article
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
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- Genes, 2024, v. 15, n. 3, p. 321, doi. 10.3390/genes15030321
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- Publication type:
- Article
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome.
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- Genes, 2024, v. 15, n. 2, p. 211, doi. 10.3390/genes15020211
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- Publication type:
- Article
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
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- Genes, 2023, v. 14, n. 3, p. 680, doi. 10.3390/genes14030680
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- Publication type:
- Article