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Closing gaps in care and knowledge for adults with complex genetic conditions.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2024, v. 196, n. 37, p. E1267, doi. 10.1503/cmaj.240782
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- Publication type:
- Article
22q11.2 Deletion Syndrome–Associated Parkinson's Disease.
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- Movement Disorders Clinical Practice, 2019, v. 6, n. 1, p. 11, doi. 10.1002/mdc3.12687
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- Publication type:
- Article
DARIER'S DISEASE: CURRENT UNDERSTANDING OF PATHOGENESIS AND FUTURE ROLE OF GENETIC STUDIES.
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- 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
Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era.
- Published in:
- Application of Clinical Genetics, 2012, v. 5, p. 1, doi. 10.2147/TACG.S21953
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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
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
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 Individuals With Schizophrenia in the Molecular Age.
- 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
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- Publication type:
- Journal 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
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
Genetic Insights Into the Neurodevelopmental Hypothesis of Schizophrenia.
- Published in:
- Schizophrenia Bulletin, 2001, v. 27, n. 3, p. 417, doi. 10.1093/oxfordjournals.schbul.a006884
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- Publication type:
- Article
Chromosome 5 and Schizophrenia: Implications for Genetic Linkage Studies.
- Published in:
- Schizophrenia Bulletin, 1989, v. 15, n. 3, p. 393, doi. 10.1093/schbul/15.3.393
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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
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
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
Neurodevelopmental functioning in probands and non‐proband carriers of 22q11.2 microduplication.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2999, doi. 10.1002/ajmg.a.62916
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- Publication type:
- Article
Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2146, doi. 10.1002/ajmg.a.38708
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- Publication type:
- Article
Non‐pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1742, doi. 10.1002/ajmg.a.38612
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- Publication type:
- Article
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 936, doi. 10.1002/ajmg.a.38645
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- Publication type:
- Article
Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 639, doi. 10.1002/ajmg.a.36928
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- Publication type:
- Article
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2781, doi. 10.1002/ajmg.a.35512
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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
Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs.
- Published in:
- Human Brain Mapping, 2022, v. 43, n. 1, p. 300, doi. 10.1002/hbm.25354
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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
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
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
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
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
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
- Published in:
- JAMA Neurology, 2017, v. 74, n. 11, p. 1301, doi. 10.1001/jamaneurol.2017.1775
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- Publication type:
- Article
Association Between Early-Onset Parkinson Disease and 22q11.2 Deletion Syndrome.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 11, p. 1359, doi. 10.1001/jamaneurol.2013.3646
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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
Schizophrenia is a later‐onset feature of PCDH19 Girls Clustering Epilepsy.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 3, p. 429, doi. 10.1111/epi.14678
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- Publication type:
- Article
Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.
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- Epilepsia (Series 4), 2017, v. 58, n. 9, p. 1502, doi. 10.1111/epi.13832
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- Publication type:
- Article
22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.
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- Epilepsia (Series 4), 2017, v. 58, n. 6, p. 1095, doi. 10.1111/epi.13748
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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
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
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
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3724, doi. 10.1093/hmg/ddz166
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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
Age-Related Parkinsonian Signs in Microdeletion 22q11.2.
- Published in:
- 2020
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- Publication type:
- journal article
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
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
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
- By:
- Publication type:
- journal article
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1278, doi. 10.1002/humu.21568
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- Publication type:
- Article