Works matching DE "DIGEORGE syndrome"
Results: 474
A Rare Case of Unilateral Congenital Asymmetric Crying Facies in a Neonate: Case Report.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 2, p. 1003, doi. 10.1007/s12070-024-05230-5
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- Article
Rethinking Schizophrenia—A Manageable Chronic Condition.
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- Canadian Journal of Psychiatry, 2025, v. 70, n. 3, p. 151, doi. 10.1177/07067437241301572
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- Article
Real-World Treatment of Schizophrenia in Adults With a 22q11.2 Microdeletion: Traitement dans le monde réel de la schizophrénie chez des adultes atteints du syndrome de microdélétion 22q11.2.
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- Canadian Journal of Psychiatry, 2025, v. 70, n. 3, p. 160, doi. 10.1177/07067437241293983
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- Article
Absent Aortic Valve in DiGeorge Syndrome.
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- Pediatric & Developmental Pathology, 2016, v. 19, n. 1, p. 61, doi. 10.2350/15-03-1616-CR.1
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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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The mitochondrial citrate carrier SLC25A1 regulates metabolic reprogramming and morphogenesis in the developing heart.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-07110-8
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Long-term outcomes of repaired and unrepaired truncus arteriosus: 20-year, single-center experience in Thailand.
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- PeerJ, 2020, p. 1, doi. 10.7717/peerj.9148
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Síndrome deleción de 22q11.2: a propósito de dos casos.
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- Duazary. Revista de la Facultad de Ciencias de la Salud, 2023, v. 20, n. 3, p. 224, doi. 10.21676/2389783X.5365
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22q11.2 deletion syndrome.
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- Learning Disability Practice, 2019, v. 22, n. 2, p. 12, doi. 10.7748/ldp.22.2.12.s14
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- Article
DGCR2 targeting affibody molecules for delivery of drugs and imaging reagents to human beta cells.
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- Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-024-84574-y
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- 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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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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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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Molecules, Mechanisms, and Disorders of Self-Domestication: Keys for Understanding Emotional and Social Communication from an Evolutionary Perspective.
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- Biomolecules (2218-273X), 2021, v. 11, n. 1, p. 2, doi. 10.3390/biom11010002
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EP09.73: When fetal ultrasound leads to the diagnosis of DiGeorge microdeletion in the parent.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 215, doi. 10.1002/uog.28454
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EP09.49: Identifying right‐sided aortic arch is important step to identify associated congenital heart diseases and chromosomal aberrations.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 209, doi. 10.1002/uog.28430
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EP09.15: Diagnosis, management and outcomes of right aortic arch: from fetal life to long‐term follow‐up at a tertiary centre.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 201, doi. 10.1002/uog.28396
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VP29.05: The importance of association hypoplastic thymus with aortic arch anomaly.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 218, doi. 10.1002/uog.24446
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VP29.03: High‐risk NiPT: the experience of a large tertiary referral fetal medicine centre.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 182, doi. 10.1002/uog.22781
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- Article
OP07.11: CSP dilation in mid-trimester fetuses with DiGeorge syndrome: a case-control study.
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- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 70, doi. 10.1002/uog.17760
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Identification and management of fetal isolated right-sided aortic arch in an unselected population.
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- 2016
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- journal article
Risk of 22q11.2 deletion in fetuses with right aortic arch and without intracardiac anomalies.
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- 2016
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- journal article
Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
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- 2016
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- journal article
Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis.
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- 2015
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- journal article
Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
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- Ultrasound in Obstetrics & Gynecology, 2014, v. 43, n. 4, p. 396, doi. 10.1002/uog.12550
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Thymic stromal alterations and genetic disorders of immune system.
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- Frontiers in Immunology, 2015, v. 6, p. 1, doi. 10.3389/fimmu.2015.00081
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The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome.
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- European Archives of Psychiatry & Clinical Neuroscience, 2015, v. 265, n. 6, p. 519, doi. 10.1007/s00406-014-0546-0
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Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome.
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- 2016
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- Case Study
A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening.
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- 2023
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- Case Study
Syndromic and non-syndromic etiologies causing neonatal hypocalcemic seizures.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.998675
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- Article
Kromozom 22q11.2 Delesyon Sendromunun Ender Bir Bulgusu: Multikistik Displastik Böbrek.
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- Journal of the Child / Çocuk Dergisi, 2019, v. 19, n. 3, p. 163, doi. 10.5222/j.child.2019.76768
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Erratum to “Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease”.
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- Parkinson's Disease (20420080), 2018, p. 1, doi. 10.1155/2018/5956437
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- Article
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson’s Disease.
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- Parkinson's Disease (20420080), 2018, p. 1, doi. 10.1155/2018/5651435
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- Article
Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study.
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- Application of Clinical Genetics, 2022, v. 15, p. 87, doi. 10.2147/TACG.S364543
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The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.
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- Application of Clinical Genetics, 2021, v. 14, p. 267, doi. 10.2147/TACG.S280066
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Heterotopic Ossification in a Newborn: A Case Report.
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- 2016
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- Publication type:
- Case Study
HPV16 E6 enhances the radiosensitivity in HPV-positive human head and neck squamous cell carcinoma by regulating the miR-27a-3p/SMG1 axis.
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- Infectious Agents & Cancer, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13027-021-00397-w
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Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?
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- Acta Obstetricia et Gynecologica Scandinavica, 2024, v. 103, n. 1, p. 51, doi. 10.1111/aogs.14716
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TBX1 Regulates Chondrocyte Maturation in the Spheno-occipital Synchondrosis.
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- 2020
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- journal article
A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome.
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- 2017
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- journal article
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.
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- 2017
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- journal article
Improvement in neurocognitive manifestations with short-term multidisciplinary intervention in DiGeorge syndrome.
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- Indian Pediatrics, 2016, v. 53, n. 9, p. 835, doi. 10.1007/s13312-016-0942-9
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- Article
Correspondence.
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- Indian Pediatrics, 2013, v. 50, n. 9, p. 885, doi. 10.1007/s13312-013-0222-x
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Diagnostic Dilemma in Overlapping Congenital Syndromes.
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- Indian Pediatrics, 2013, v. 50, n. 1, p. 157, doi. 10.1007/s13312-013-0006-3
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- Article
Gene expression profiling in the developing secondary palate in the absence of <italic>Tbx1</italic> function.
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- BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4782-y
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- Article
Postnatal outcome of fetal aberrant right subclavian artery: a single center study.
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- 2024
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- Case Study
A case of DiGeorge syndrome presenting with a cervical aortic arch.
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- 2023
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- Publication type:
- Case Study
Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.
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- Archives of Gynecology & Obstetrics, 2022, v. 305, n. 2, p. 323, doi. 10.1007/s00404-021-06125-4
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- Article
DiGeorge -22q11.2 mikrodeléciós szindróma.
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- Gyermekgyógyászat, 2022, v. 73, n. 4, p. 269
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Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
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- Human Genetics, 2016, v. 135, n. 3, p. 273, doi. 10.1007/s00439-015-1623-9
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- Article