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Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09547-8
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- Article
De novo start‐loss variant in HIRA in patient with DiGeorge‐like syndrome.
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- Clinical Genetics, 2024, v. 105, n. 6, p. 683, doi. 10.1111/cge.14521
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- Publication type:
- Article
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
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- Human Genetics, 2024, v. 143, n. 6, p. 775, doi. 10.1007/s00439-024-02683-0
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- Article
Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery.
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- Laryngoscope, 2024, v. 134, n. 6, p. 2551, doi. 10.1002/lary.31181
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- Article
A case of bipolar I disorder with a loss‐of‐function variant of schizophrenia risk gene SETD1A: possible expansion of the relevant clinical spectrum supported by a meta‐analysis.
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- Psychiatry & Clinical Neurosciences, 2024, v. 78, n. 6, p. 374, doi. 10.1111/pcn.13669
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- Article
Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.
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- Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-024-00731-x
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- Article
Low lung function in Bipolar Disorder and Schizophrenia: a hidden risk.
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- Frontiers in Physiology, 2024, p. 1, doi. 10.3389/fphys.2024.1335798
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- Publication type:
- Article
From Bedside to Bench and Back: Advancing Our Understanding of the Pathophysiology of Cleft Palate and Implications for the Future.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 5, p. 759, doi. 10.1177/10556656221142098
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- Publication type:
- Article
Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome.
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- Clinical Genetics, 2024, v. 105, n. 5, p. 459, doi. 10.1111/cge.14503
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- Article
Ethnoracial Risk Variation Across the Psychosis Continuum in the US: A Systematic Review and Meta-Analysis.
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- JAMA Psychiatry, 2024, v. 81, n. 5, p. 447, doi. 10.1001/jamapsychiatry.2023.5497
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- Article
Commentary: Causal associations between schizophrenia and cancers risk: a Mendelian randomization study.
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- Frontiers in Oncology, 2024, p. 01, doi. 10.3389/fonc.2024.1374235
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- Article
The Association of Redox Regulatory Drug Target Genes with Psychiatric Disorders: A Mendelian Randomization Study.
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- Antioxidants, 2024, v. 13, n. 4, p. 398, doi. 10.3390/antiox13040398
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- 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
Thalamic contributions to psychosis susceptibility: Evidence from co‐activation patterns accounting for intra‐seed spatial variability (μCAPs).
- Published in:
- Human Brain Mapping, 2024, v. 45, n. 5, p. 1, doi. 10.1002/hbm.26649
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- Publication type:
- Article
22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features.
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- Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01686-w
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- Publication type:
- Article
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.
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- Journal of Intellectual Disability Research, 2024, v. 68, n. 4, p. 369, doi. 10.1111/jir.13115
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- Publication type:
- Article
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
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- Genetics Research, 2024, v. 2024, p. 1, doi. 10.1155/2024/5549592
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- Publication type:
- Article
Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09527-y
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- Publication type:
- Article
Defined co-cultures of glutamatergic and GABAergic neurons with a mutation in DISC1 reveal aberrant phenotypes in GABAergic neurons.
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- BMC Neuroscience, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12868-024-00858-z
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- Publication type:
- Article
Surgical Management of Submucous Cleft Palate by Radical Muscle Dissection Veloplasty: Speech Outcomes in Patients with 22q11.2 Deletion Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 3, p. 498, doi. 10.1177/10556656221150707
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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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- Article
Critical Hypoglycemia in a Newborn with Pituitary Stalk Interruption Syndrome in Conjunction with 16p11.2 Deletion Syndrome and Duplication of Xp22.33/Yp11.32.
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- Journal of Neonatology, 2024, v. 38, n. 1, p. 153, doi. 10.1177/09732179231172274
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- Article
Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.
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- Journal of Personalized Medicine, 2024, v. 14, n. 3, p. 290, doi. 10.3390/jpm14030290
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- Article
Severe Pediatric Dystonia Responding to Deep Brain Stimulation in 22q11.2 Microduplication Syndrome: Rare Clinical Presentation.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 3, p. 309, doi. 10.1002/mdc3.13955
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- Article
22q11.2 Deletion syndrome: What nurses need to know.
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- Practice Nursing, 2024, v. 35, n. 3, p. 99, doi. 10.12968/pnur.2024.35.3.99
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- Article
Tract-based analyses of white matter in schizophrenia, bipolar disorder, aging, and dementia using high spatial and directional resolution diffusion imaging: a pilot study.
- Published in:
- Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2024.1240502
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- Publication type:
- Article
Antenatal description of large 4q13.2q21.23 deletion and outcomes.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 2, p. 1, doi. 10.1002/mgg3.2397
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- Article
Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-023-00389-2
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- Article
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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- Publication type:
- Article
Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.
- Published in:
- Human Brain Mapping, 2024, v. 45, n. 1, p. 1, doi. 10.1002/hbm.26553
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- Publication type:
- Article
Co‐Occurrence of Sensorineural Hearing Loss and Congenital Heart Disease: Etiologies and Management.
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- Laryngoscope, 2024, v. 134, n. 1, p. 400, doi. 10.1002/lary.30799
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- Publication type:
- Article
Decoding 22q11.2: prenatal profiling and first‐trimester risk assessment in Danish nationwide cohort.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 63, n. 1, p. 34, doi. 10.1002/uog.27466
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- Article
Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype.
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- Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7579, doi. 10.3390/jcm12247579
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- Article
Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing.
- Published in:
- Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1260995
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- Article
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02980-3
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- Publication type:
- Article
Clustering of antipsychotic-naïve patients with schizophrenia based on functional connectivity from resting-state electroencephalography.
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- European Archives of Psychiatry & Clinical Neuroscience, 2023, v. 273, n. 8, p. 1785, doi. 10.1007/s00406-023-01550-9
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- Publication type:
- Article
A mixed method comparison of stigma toward autism and schizophrenia and effects of person-first versus identity-first language.
- Published in:
- Frontiers in Psychiatry, 2023, p. 1, doi. 10.3389/fpsyt.2023.1263525
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- Article
22 Adaptive Functioning in 22q11.2 Deletion Syndrome Across the Lifespan: Where are the Social Determinants of Health?
- Published in:
- 2023
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- Abstract
Speech Telepractice and Treatment Intensity in a Cantonese-Speaking Case with 22q11.2 Deletion Syndrome Following Late Diagnosis and Management of Velopharyngeal Dysfunction.
- Published in:
- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 11, p. 1505, doi. 10.1177/10556656221106042
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- Publication type:
- Article
Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02953-6
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- Publication type:
- Article
Value of P300 amplitude in the diagnosis of untreated first-episode schizophrenia and psychosis risk syndrome in children and adolescents.
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- BMC Psychiatry, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12888-023-05218-5
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- Publication type:
- Article
PGR - 2 Demons In The Mirrors: A Childhood Case Report of 22q11.2 Deletion Syndrome First Addressed By Tele-Neuropsychological Evaluation During The COVID-19 Lockdown.
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- Archives of Clinical Neuropsychology, 2023, v. 38, n. 7, p. 1137, doi. 10.1093/arclin/acad067.003
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- Publication type:
- Article
Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 22q11.2DS: A Cross-Sectional Study.
- Published in:
- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 10, p. 1250, doi. 10.1177/10556656221100674
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- Publication type:
- Article
Is There Any Risk for Metabolic Syndrome in Children and Adolescents with Psychiatric Disorders?
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- Dubai Medical Journal, 2023, v. 6, n. 4, p. 261, doi. 10.1159/000533470
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- Publication type:
- Article
Structural Connectivity and Emotion Recognition Impairment in Children and Adolescents with Chromosome 22q11.2 Deletion Syndrome.
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- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 10, p. 4021, doi. 10.1007/s10803-022-05675-z
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- Publication type:
- Article
Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.
- Published in:
- 2023
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- Publication type:
- Case Study
Weight and metabolic changes in early psychosis―association with daily quantification of medication exposure during the first hospitalization.
- Published in:
- Acta Psychiatrica Scandinavica, 2023, v. 148, n. 3, p. 265, doi. 10.1111/acps.13594
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- Publication type:
- Article
Real-life outcomes in biotypes of psychotic disorders based on neurocognitive performance.
- Published in:
- European Archives of Psychiatry & Clinical Neuroscience, 2023, v. 273, n. 6, p. 1379, doi. 10.1007/s00406-022-01518-1
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- Publication type:
- Article
An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 285, doi. 10.4274/jcrpe.galenos.2023.2022-11-3
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- Article
An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome.
- Published in:
- Journal of Intellectual Disability Research, 2023, v. 67, n. 9, p. 860, doi. 10.1111/jir.13061
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- Publication type:
- Article