Works matching DE "22Q11 deletion syndrome"
Results: 770
Absent Aortic Valve in DiGeorge Syndrome.
- Published in:
- Pediatric & Developmental Pathology, 2016, v. 19, n. 1, p. 61, doi. 10.2350/15-03-1616-CR.1
- By:
- Publication type:
- Article
Neuropathology of 22q11 Deletion Syndrome in an Infant.
- Published in:
- Pediatric & Developmental Pathology, 2014, v. 17, n. 5, p. 386, doi. 10.2350/13-11-1399-CR.1
- By:
- Publication type:
- Article
Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome.
- Published in:
- Autism & Developmental Language Impairments, 2023, p. 1, doi. 10.1177/23969415231179844
- By:
- Publication type:
- Article
Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome.
- Published in:
- Autism & Developmental Language Impairments, 2023, v. 8, p. 1, doi. 10.1177/23969415231179844
- By:
- Publication type:
- Article
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
- Published in:
- Human Genetics, 2024, v. 143, n. 6, p. 775, doi. 10.1007/s00439-024-02683-0
- By:
- Publication type:
- Article
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
- Published in:
- Human Genetics, 2021, v. 140, n. 6, p. 885, doi. 10.1007/s00439-020-02252-1
- By:
- Publication type:
- Article
Identifying common genome-wide risk genes for major psychiatric traits.
- Published in:
- Human Genetics, 2020, v. 139, n. 2, p. 185, doi. 10.1007/s00439-019-02096-4
- By:
- Publication type:
- Article
Discovery of shared genomic loci using the conditional false discovery rate approach.
- Published in:
- Human Genetics, 2020, v. 139, n. 1, p. 85, doi. 10.1007/s00439-019-02060-2
- By:
- Publication type:
- Article
The genetic architecture of aniridia and Gillespie syndrome.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 881, doi. 10.1007/s00439-018-1934-8
- By:
- Publication type:
- Article
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.
- Published in:
- Human Genetics, 2019, v. 138, n. 1, p. 93, doi. 10.1007/s00439-018-01967-6
- By:
- Publication type:
- Article
A comparative study of insight between patients with schizophrenia and mania with psychosis.
- Published in:
- Indian Journal of Basic & Applied Medical Research, 2019, v. 8, n. 4, p. 15
- By:
- Publication type:
- Article
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.6183
- By:
- Publication type:
- Article
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 8, p. 2259, doi. 10.1007/s10072-020-04424-3
- By:
- Publication type:
- Article
A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center.
- Published in:
- Turkish Journal of Immunology, 2019, v. 7, n. 3, p. 113, doi. 10.25002/tji.2019.1168
- By:
- Publication type:
- Article
Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?
- Published in:
- Dermatology & Therapy, 2020, v. 10, n. 1, p. 213, doi. 10.1007/s13555-019-00336-z
- By:
- Publication type:
- Article
Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.
- Published in:
- Brain Sciences (2076-3425), 2025, v. 15, n. 1, p. 24, doi. 10.3390/brainsci15010024
- By:
- Publication type:
- Article
Novel Compounds in the Treatment of Schizophrenia—A Selective Review.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 8, p. 1193, doi. 10.3390/brainsci13081193
- By:
- Publication type:
- Article
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 10, p. 1293, doi. 10.3390/brainsci11101293
- By:
- Publication type:
- Article
Shared Genetic Background between Parkinson's Disease and Schizophrenia: A Two-Sample Mendelian Randomization Study.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1042, doi. 10.3390/brainsci11081042
- By:
- Publication type:
- Article
Combined Low Dose of Ketamine and Social Isolation: A Possible Model of Induced Chronic Schizophrenia-Like Symptoms in Male Albino Rats.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 917, doi. 10.3390/brainsci11070917
- By:
- Publication type:
- Article
A Neurodevelopment Approach for a Transitional Model of Early Onset Schizophrenia.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 275, doi. 10.3390/brainsci11020275
- By:
- Publication type:
- Article
EP09.73: When fetal ultrasound leads to the diagnosis of DiGeorge microdeletion in the parent.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 215, doi. 10.1002/uog.28454
- By:
- Publication type:
- Article
Decoding 22q11.2: prenatal profiling and first‐trimester risk assessment in Danish nationwide cohort.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 63, n. 1, p. 34, doi. 10.1002/uog.27466
- By:
- Publication type:
- Article
VP30.05: The utility of maternal plasma cell‐free fetal DNA screening in prenatal diagnosis of 22q11.2 microdeletion syndrome.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 185, doi. 10.1002/uog.22796
- By:
- Publication type:
- Article
VP30.02: 22q11 microdeletions and duplications: how are they detected prenatally?
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 185, doi. 10.1002/uog.22793
- By:
- Publication type:
- Article
VP18.13: Postnatal outcome of prenatally diagnosed isolated right aortic arch with concomitant right ductal arch: systematic review.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 133, doi. 10.1002/uog.22620
- By:
- Publication type:
- Article
VP16.06: Left atrial isomerism associated with genetic microdeletion syndrome.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 120, doi. 10.1002/uog.22572
- By:
- Publication type:
- Article
VP14.10: Prenatal diagnosis of vascular rings and its clinical significance in postnatal life.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 110, doi. 10.1002/uog.22539
- By:
- Publication type:
- Article
VP06.07: Prenatal ultrasonography of 5p deletion syndrome: literature review.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 77, doi. 10.1002/uog.22419
- By:
- Publication type:
- Article
VP06.06: Changing pattern in prenatal diagnosis of 5p deletion syndrome: a review of available methodology over four decades.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 76, doi. 10.1002/uog.22418
- By:
- Publication type:
- Article
VP05.05: Dilated cavum septi pellucidi in fetuses with microdeletion 22q11: retrospective study in the GENNET clinic 2010–2019, Czechia.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 74, doi. 10.1002/uog.22410
- By:
- Publication type:
- Article
Genetic association of retroesophageal left brachiocephalic vein.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, n. 6, p. 836, doi. 10.1002/uog.20275
- By:
- Publication type:
- Article
OC21.02: The incidence of genetic variants in fetuses with severe congenital heart defects.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 53, doi. 10.1002/uog.20567
- By:
- Publication type:
- Article
OC06.04: Population‐based prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 14, doi. 10.1002/uog.20459
- By:
- Publication type:
- Article
P13.07: Fetal aortic arch and its branches anomalies: prenatal ultrasound, vascular cast and gene detection.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 171, doi. 10.1002/uog.19719
- By:
- Publication type:
- Article
P02.05: Is prenatal detection of isolated aberrant right subclavian artery associated with aneuploidy and 22q11 microdeletion?
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 142, doi. 10.1002/uog.19629
- By:
- Publication type:
- Article
P01.02: Frequency of 22q11 microdeletion syndrome in fetuses with conotruncal heart disease.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 138, doi. 10.1002/uog.19616
- By:
- Publication type:
- Article
Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Assessment of cardiac angle in fetuses with congenital heart disease at risk of 22q11.2 deletion.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2013, v. 41, n. 2, p. 172, doi. 10.1002/uog.11194
- By:
- Publication type:
- Article
Right aortic arch with patent right ductus arteriosus and normal heart.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2012, v. 40, n. 1, p. 115, doi. 10.1002/uog.10076
- By:
- Publication type:
- Article
The Role of Zebrafish and Laboratory Rodents in Schizophrenia Research.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. N.PAG, doi. 10.3389/fpsyt.2020.00703
- By:
- Publication type:
- Article
Maternal Immune Activation and the Development of Dopaminergic Neurotransmission of the Offspring: Relevance for Schizophrenia and Other Psychoses.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. N.PAG, doi. 10.3389/fpsyt.2020.00852
- By:
- Publication type:
- Article
The Gut Microbiome in Psychosis From Mice to Men: A Systematic Review of Preclinical and Clinical Studies.
- Published in:
- Frontiers in Psychiatry, 2020, p. N.PAG, doi. 10.3389/fpsyt.2020.00799
- By:
- Publication type:
- Article
The Attenuated Psychosis Syndrome and Facial Affect Processing in Adolescents With and Without Autism.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. N.PAG, doi. 10.3389/fpsyt.2020.00759
- By:
- Publication type:
- Article
Chronicity and Sex Affect Genetic Risk Prediction in Schizophrenia.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00313
- By:
- Publication type:
- Article
Psychiatric Diagnoses and Treatment Preceding Schizophrenia in Adolescents Aged 9–17 Years.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00487
- By:
- Publication type:
- Article
Chemosensory Anhedonia in Patients With Schizophrenia and Individuals With Schizotypy: A Questionnaire Study.
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00481
- By:
- Publication type:
- Article
Commentary: Preventive Treatments for Psychosis: Umbrella Review (Just the Evidence).
- Published in:
- Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00488
- By:
- Publication type:
- Article