Clinical features of 78 adults with 22q11 Deletion Syndrome. - Wikidata - wikimedia - TriplyDB

Clinical features of 78 adults with 22q11 Deletion Syndrome.

Clinical features of 78 adults with 22q11 Deletion Syndrome.

http://www.wikidata.org/entity/Q51925287

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Genetics of bipolar disorder Cerebral cortex expansion and folding: what have we learned?Practical guidelines for managing adults with 22q11.2 deletion syndrome Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development Practical guidelines for managing patients with 22q11.2 deletion syndrome A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Review of pathological hallmarks of schizophrenia: comparison of genetic models with patients and nongenetic models Schizophrenia and 22q11.2 deletion syndrome.Association between catechol-O-methyltrasferase Val108/158Met genotype and prefrontal hemodynamic response in schizophrenia Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times Applicability of the nonverbal learning disability paradigm for children with 22q11.2 deletion syndrome.New Genetic Findings in Schizophrenia: Is there Still Room for the Dopamine Hypothesis of Schizophrenia?The importance of copy number variation in congenital heart disease High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.De novo rates and selection of large copy number variation.A comprehensive network and pathway analysis of candidate genes in major depressive disorder.22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.Copy number variants in short children born small for gestational age.Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.How might stress contribute to increased risk for schizophrenia in children with chromosome 22q11.2 deletion syndrome?Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.Neurocognitive profile in 22q11 deletion syndrome and schizophrenia.Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.Elements of psychocardiology in the psychosocial handling of adults with congenital heart disease.New findings in the genetics of major psychoses 22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot.Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome Premature death in adults with 22q11.2 deletion syndrome.Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome.

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P2860

Clinical features of 78 adults with 22q11 Deletion Syndrome.

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

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American Journal of Medical Genetics

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Clinical features of 78 adults with 22q11 Deletion Syndrome.

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Anne S Bassett

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Eva W C Chow

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Gary D Webb

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Janice Husted

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Michael A Gatzoulis

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Oana Caluseriu

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Rosanna Weksberg

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P2860

Role of TBX1 in human del22q11.2 syndrome

The schizophrenia phenotype in 22q11 deletion syndrome

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

Chromosomal microdeletions: dissecting del22q11 syndrome

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.

Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience.

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

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