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Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome.
- Published in:
- Human Genetics, 2007, v. 120, n. 6, p. 837, doi. 10.1007/s00439-006-0242-x
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- Publication type:
- Article
Validation of a microRNA target site polymorphism in H3F3B that is potentially associated with a broad schizophrenia phenotype.
- Published in:
- PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194233
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- Publication type:
- Article
Increasing Genotype-Phenotype Model Determinism: Application to Bivariate Reading/Language Traits and Epistatic Interactions in Language-Impaired Families.
- Published in:
- Human Heredity, 2011, v. 70, n. 4, p. 232, doi. 10.1159/000320367
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- Publication type:
- Article
Fine Mapping of the Schizophrenia Susceptibility Locus on Chromosome 1q22.
- Published in:
- Human Heredity, 2002, v. 54, n. 4, p. 199, doi. 10.1159/000070665
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- Publication type:
- Article
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 22, p. 4485, doi. 10.1093/hmg/ddt297
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- Publication type:
- Article
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1717, doi. 10.1093/hmg/ddp082
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- Publication type:
- Article
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 4045, doi. 10.1093/hmg/ddn307
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- Publication type:
- Article
MicroRNA dysregulation, gene networks, and risk for schizophrenia in 22q11.2 deletion syndrome.
- Published in:
- Frontiers in Neurology, 2014, v. 5, p. 1, doi. 10.3389/fneur.2014.00238
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- Publication type:
- Article
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease.
- Published in:
- 2017
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- Publication type:
- journal article
Erratum. Evaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease. Diabetes 2019;68:2235-2246.
- Published in:
- 2020
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- Publication type:
- journal article
Evaluation of the Genetic Association Between Adult Obesity and Neuropsychiatric Disease.
- Published in:
- 2019
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- Publication type:
- journal article
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 6/7, p. 804, doi. 10.1002/pd.6566
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- Publication type:
- Article
Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.
- Published in:
- 2017
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- Publication type:
- journal article
22q11.2 Deletion Syndrome–Associated Parkinson's Disease.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 1, p. 11, doi. 10.1002/mdc3.12687
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- Publication type:
- Article
Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 11, p. 1314, doi. 10.1002/acn3.641
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- Publication type:
- Article
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
- Published in:
- G3: Genes | Genomes | Genetics, 2015, v. 5, n. 11, p. 2453, doi. 10.1534/g3.115.021345
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- Publication type:
- Article
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 169, doi. 10.3390/genes14010169
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- Publication type:
- Article
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 160, doi. 10.3390/genes14010160
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- Publication type:
- Article
Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 11, p. 2038, doi. 10.3390/genes13112038
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- Publication type:
- Article
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101800
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- Publication type:
- Article
Hypertriglyceridemia in young adults with a 22q11.2 microdeletion.
- Published in:
- European Journal of Endocrinology, 2022, v. 187, n. 1, p. 91, doi. 10.1530/EJE-21-1104
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- Publication type:
- Article
Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 8, p. 1, doi. 10.1371/journal.pgen.1002843
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- Publication type:
- Article
Heritability of schizophrenia and major affective disorder as a function of age, in the presence of strong cohort effects.
- Published in:
- European Archives of Psychiatry & Clinical Neuroscience, 2006, v. 256, n. 4, p. 222, doi. 10.1007/s00406-005-0629-z
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- Publication type:
- Article
Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition.
- Published in:
- Journal of Applied Research in Intellectual Disabilities, 2022, v. 35, n. 4, p. 966, doi. 10.1111/jar.12927
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- Publication type:
- Article
Personalized medical information card for adults with 22q11.2 deletion syndrome: An initiative to improve communication between patients and healthcare providers.
- Published in:
- Journal of Applied Research in Intellectual Disabilities, 2020, v. 33, n. 6, p. 1534, doi. 10.1111/jar.12747
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- Publication type:
- Article
Internet Safety Issues for Adolescents and Adults with Intellectual Disabilities.
- Published in:
- Journal of Applied Research in Intellectual Disabilities, 2017, v. 30, n. 2, p. 416, doi. 10.1111/jar.12250
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- Publication type:
- Article
DARIER'S DISEASE: CURRENT UNDERSTANDING OF PATHOGENESIS AND FUTURE ROLE OF GENETIC STUDIES.
- Published in:
- International Journal of Dermatology, 1993, v. 32, n. 6, p. 397, doi. 10.1111/j.1365-4362.1993.tb02806.x
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- Publication type:
- Article
Adult neuropsychiatric expression and familial segregation of 2q13 duplications.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2014, v. 165B, n. 4, p. 337, doi. 10.1002/ajmg.b.32236
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- Publication type:
- Article
Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9263-3
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- Publication type:
- Article
Commentary: Anxiety Disorders and Perceptual Disturbances in Adolescents with 22q11.2 Deletion Syndrome Treated with SSRI: A Case Series.
- Published in:
- 2011
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- Publication type:
- Opinion
Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.812183
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- Publication type:
- Article
Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genetic insights into schizophrenia.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Genetic counselling for schizophrenia in the era of molecular genetics.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Psychiatric genetics in the 21st century.
- Published in:
- 2001
- By:
- Publication type:
- commentary
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00408-w
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- Publication type:
- Article
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0488-z
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- Publication type:
- Article
Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson’s disease.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0173944
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- Publication type:
- Article
Individualizing Recurrence Risks for Severe Mental Illness: Epidemiologic and Molecular Genetic Approaches.
- Published in:
- 2014
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- Publication type:
- Journal Article
Evaluating Genetic Counseling for Family Members of Individuals With Schizophrenia in the Molecular Age.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Evaluating Genetic Counseling for Individuals With Schizophrenia in the Molecular Age.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Individualizing Recurrence Risks for Severe Mental Illness: Epidemiologic and Molecular Genetic Approaches.
- Published in:
- Schizophrenia Bulletin, 2014, v. 40, n. 1, p. 21, doi. 10.1093/schbul/sbt133
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- Publication type:
- Article
Evaluating Genetic Counseling for Family Members of Individuals With Schizophrenia in the Molecular Age.
- Published in:
- Schizophrenia Bulletin, 2014, v. 40, n. 1, p. 88, doi. 10.1093/schbul/sbs124
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- Publication type:
- Article
Evaluating Genetic Counseling for Individuals With Schizophrenia in the Molecular Age.
- Published in:
- Schizophrenia Bulletin, 2014, v. 40, n. 1, p. 78, doi. 10.1093/schbul/sbs138
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- Publication type:
- Article
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 7, p. 1, doi. 10.1371/journal.pgen.1009679
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- Publication type:
- Article
Recognizing a common genetic syndrome: 22q11.2 deletion syndrome.
- Published in:
- 2008
- By:
- Publication type:
- Case Study
Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.
- Published in:
- CMAJ Open, 2021, v. 9, n. 3, p. E802, doi. 10.9778/cmajo.20200294
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- Publication type:
- Article
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 6, p. 2013, doi. 10.1093/nar/gkm076
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- Publication type:
- Article